📦
Alvessa Snapshot — Saved on 12/26/2025, 12:25:25 PM
This is a self-contained research snapshot. All core features work offline. 3D molecular visualizations require internet for RDKit.js library.
Alvessa logo

Alvessa: Agentic evidence-grounded research assistant for biology

Ask another question
Question
Compare the druggability of SMAD2 and SMAD3. Consider covalent and non-covalent targeting strategies, summarize any existing information, and flag potential liabilities
Answer
VERDICT: PASS Hover for feedback; click a highlight to see references to data.

Druggability Comparison: SMAD2 vs SMAD3

Direct Druggability Evidence

SMAD2

No ChEMBL druggability data found for SMAD2, indicating a lack of documented small molecule bioactivity in the ChEMBL database.

SMAD3

SMAD3 has documented bioactivity data in ChEMBL with 25 compounds showing IC50 values ranging from 38 nM to 9894 nM. The most potent compounds include CHEMBL601757 (IC50=38.00 nM, pChEMBL=7.42), CHEMBL1334062 (IC50=39.00 nM, pChEMBL=7.41), and CHEMBL6246 (ELLAGIC ACID, IC50=142.00 nM, pChEMBL=6.85). These are positive numeric IC50 values with molar units, representing the lowest (strongest) potency observed per assay type. Key Finding: SMAD3 demonstrates significantly better druggability based on existing small molecule screening data, while SMAD2 lacks documented bioactive compounds. —

Covalent Targeting Potential: Cysteine Residues

### SMAD2 Cysteine ProfileSMAD2 has 14 detected cysteines, with 2 ligandable cysteines (Q15796_C74, Q15796_C81), 3 binding-site cysteines, and 2 near binding-site cysteines (Q15796_C70 near C74, Q15796_C81 near C74). No cysteines are hyperreactive or at active sites.

SMAD3 Cysteine Profile

SMAD3 has only 5 detected cysteines, with 0 ligandable cysteines, 3 binding-site cysteines, and no hyperreactive, active-site, or near binding-site cysteines. Key Finding: SMAD2 offers superior covalent targeting opportunities with 2 ligandable cysteines (C74 and C81), both associated with binding sites. SMAD3 has fewer cysteines and none are flagged as ligandable, making covalent targeting more challenging. —

Structural Druggability Features

### SMAD2SMAD2 has FPocket druggability scores ranging from 0.0 to 0.713 (avg=0.037), indicating some pockets with moderate drug-likeness. The protein shows 22.7% disordered regions with 3 disorder regions (longest=68 residues) and 14.1% MoRF propensity (1 segment, longest=66 residues).

SMAD3

SMAD3 has FPocket druggability scores ranging from 0.0 to 0.136 (avg=0.010), substantially lower than SMAD2. The protein shows 22.6% disordered regions with 4 disorder regions (longest=67 residues) and 13.9% MoRF propensity (1 segment, longest=59 residues). Key Finding: SMAD2 has higher maximum FPocket scores (0.713 vs 0.136), suggesting better-defined druggable pockets. Both proteins have similar disorder profiles (~22-23%), which may complicate traditional small molecule targeting. —

Genetic Constraint and Essentiality

### SMAD2SMAD2 is not a core essential gene (inhibition/knockout not consistently lethal across most cell lines; not universally vital for survival).The genetic constraint score for loss-of-function variants is 1.0, indicating high tolerance to LOF mutations.

SMAD3

SMAD3 is not a core essential gene (inhibition/knockout not consistently lethal across most cell lines; not universally vital for survival).The genetic constraint score for loss-of-function variants is 0.9999799728393555, also indicating high tolerance to LOF mutations. Key Finding: Both genes show high tolerance to loss-of-function mutations (LOF scores ~1.0), suggesting that complete inhibition may be tolerated therapeutically, reducing concerns about on-target toxicity from full inhibition. —

Protein-Protein Interactions (PPI) Complexity

### SMAD2SMAD2 has extensive interactions including Affinity Capture-MS with 107 proteins, Affinity Capture-Western with 134 proteins, Reconstituted Complex with 68 proteins, and Two-hybrid with 115 proteins.

SMAD3

SMAD3 has similarly extensive interactions including Affinity Capture-MS with 95 proteins, Affinity Capture-Western with 159 proteins, Reconstituted Complex with 95 proteins, and Two-hybrid with 127 proteins. Key Finding: Both proteins are highly connected hubs in signaling networks, which may complicate selective targeting but also provides multiple potential intervention points for allosteric or PPI-disrupting strategies. —

Subcellular Localization Dynamics

### SMAD2SMAD2 is cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, it migrates to the nucleus when complexed with SMAD4 or with IPO7. On dephosphorylation by phosphatase PPM1A, it is released from the SMAD2/SMAD4 complex and exported out of the nucleus by interaction with RANBP1.

SMAD3

SMAD3 is cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, it migrates to the nucleus when complexed with SMAD4. Through the action of phosphatase PPM1A, it is released from the SMAD2/SMAD4 complex and exported out of the nucleus by interaction with RANBP1. PDPK1 prevents its nuclear translocation in response to TGF-beta. Key Finding: Both proteins undergo similar TGF-β-dependent nuclear-cytoplasmic shuttling, suggesting that targeting nuclear translocation or SMAD4 complex formation could be viable strategies for both targets. —

Disease Associations and Therapeutic Relevance

### SMAD2SMAD2 is associated with congenital heart defects, multiple types, 8, with or without heterotaxy, and Loeys-Dietz syndrome 6.Direct disease associations include extensive cardiovascular, cancer (colorectal adenoma, triple-negative breast cancer, glioma, various carcinomas), fibrotic (pulmonary fibrosis, hepatic fibrosis), and autoimmune conditions.

SMAD3

SMAD3 is associated with colorectal cancer and Loeys-Dietz syndrome 3.Direct disease associations include extensive cardiovascular, cancer (colorectal adenocarcinoma, various carcinomas), fibrotic, autoimmune, and immunodeficiency conditions. Key Finding: Both proteins are implicated in overlapping disease areas (cancer, fibrosis, cardiovascular disease), supporting therapeutic relevance. However, the broader disease association profile suggests potential for off-target effects if selectivity is not achieved. —

Tissue Expression Patterns

### SMAD2SMAD2 shows tissue-specific expression (z-score ≥2) in segmented neutrophil of bone marrow (z=4), CD34-negative CD41-positive CD42-positive megakaryocyte cell (z=4), CD3-positive CD4-positive CD8-positive double positive thymocyte (z=4), CD4-positive alpha-beta thymocyte (z=5), CD8-positive alpha-beta thymocyte (z=4), conventional dendritic cell (z=4), CD8-positive alpha-beta T cell (z=3), CD4-positive alpha-beta T cell (z=3), and various immune cells.

SMAD3

SMAD3 shows tissue-specific expression (z-score ≥2) primarily in CD14-positive CD16-negative classical monocyte (z=3), with lower overall tissue specificity compared to SMAD2. Key Finding: SMAD2 shows broader and higher tissue-specific expression in immune cells, particularly T-cell lineages, which may increase risk of immune-related adverse effects with systemic inhibition. —

Summary and Strategic Recommendations

### Non-Covalent Targeting - SMAD3 is the more druggable target for non-covalent approaches based on existing bioactivity data (25 compounds with IC50 values) - SMAD2 has better structural druggability features (higher FPocket scores) but lacks validated chemical matter ### Covalent Targeting - SMAD2 is superior for covalent targeting with 2 ligandable cysteines (C74, C81) near binding sites - SMAD3 has no ligandable cysteines, making covalent approaches less feasible ### Potential Liabilities 1. Selectivity Challenge: Both proteins share ~84% sequence identity in MH2 domains and form heterotrimers with SMAD4, making selective inhibition difficult 2. Immune System Effects:SMAD2’s high expression in multiple immune cell types (T-cells, dendritic cells, neutrophils)andSMAD3’s expression in monocytessuggest potential immunosuppressive effects
  1. Cardiovascular Risks: Both proteins are associated with Loeys-Dietz syndrome and cardiovascular abnormalities, raising concerns about cardiovascular safety

  2. Compensatory Mechanisms:

Both proteins interact extensively with each other (SMAD2-SMAD3 interactions documented in multiple assay types), suggesting potential functional redundancy
  1. Context-Dependent Effects: The dynamic nuclear-cytoplasmic shuttling and complex regulation by multiple kinases/phosphatases may result in tissue- and context-dependent drug responses

Recommended Strategy

  • For non-covalent programs: Prioritize SMAD3 due to existing chemical matter and validated bioactivity
  • For covalent programs: Prioritize SMAD2 targeting C74 or C81
  • For both: Consider allosteric inhibitors targeting SMAD4 heterotrimer formation or nuclear translocation to potentially achieve better selectivity and reduce on-target toxicity
  • Risk mitigation: Extensive cardiovascular and immune safety monitoring will be essential for either target
    Gene Summary
    SMAD2 • ENSG00000175387.16 • Entrez:4087 • UniProt:Q15796
    chr18 47808957–47931146 - • Transcripts: 5 • Median span: null bp • Max span: null bp
    Functions (1)
    Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells (By similarity). Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. May act as a tumor suppressor in colorectal carcinoma
    Diseases (2)
    Congenital heart defects, multiple types, 8, with or without heterotaxy Loeys-Dietz syndrome 6
    Pathways (36)
    SMAD2/3 Phosphorylation Motif Mutants in Cancer Transcriptional regulation of pluripotent stem cells SMAD4 MH2 Domain Mutants in Cancer Formation of definitive endoderm SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Signaling by Activin SMAD2/3 MH2 Domain Mutants in Cancer Downregulation of TGF-beta receptor signaling Signaling by TGF-beta Receptor Complex in Cancer Signal Transduction Gastrulation Germ layer formation at gastrulation Metabolism of proteins Deubiquitination Ub-specific processing proteases Post-translational protein modification FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes TGF-beta receptor signaling activates SMADs Downregulation of SMAD2/3:SMAD4 transcriptional activity Disease Developmental Biology Signaling by TGF-beta Receptor Complex Signaling by TGFB family members Signaling by NODAL Diseases of signal transduction by growth factor receptors and second messengers Gene expression (Transcription) Generic Transcription Pathway Formation of axial mesoderm RNA Polymerase II Transcription TGFBR1 KD Mutants in Cancer FOXO-mediated transcription of cell cycle genes Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Loss of Function of TGFBR1 in Cancer FOXO-mediated transcription Loss of Function of SMAD4 in Cancer Loss of Function of SMAD2/3 in Cancer
    GO annotations (79)
    C:SMAD protein complex C:activin responsive factor complex C:chromatin C:cytoplasm C:cytosol C:heteromeric SMAD protein complex C:homomeric SMAD protein complex C:intracellular membrane-bounded organelle C:nucleoplasm C:nucleus C:protein-containing complex C:transcription regulator complex F:DNA-binding transcription activator activity, RNA polymerase II-specific F:DNA-binding transcription factor activity F:DNA-binding transcription factor activity, RNA polymerase II-specific F:DNA-binding transcription factor binding F:I-SMAD binding F:R-SMAD binding F:RNA polymerase II cis-regulatory region sequence-specific DNA binding F:RNA polymerase II-specific DNA-binding transcription factor binding F:SMAD binding F:chromatin binding F:cis-regulatory region sequence-specific DNA binding F:co-SMAD binding F:disordered domain specific binding F:double-stranded DNA binding F:identical protein binding F:metal ion binding F:phosphatase binding F:tau protein binding F:transforming growth factor beta receptor binding F:type I transforming growth factor beta receptor binding F:ubiquitin protein ligase binding P:DNA-templated transcription P:SMAD protein signal transduction P:activin receptor signaling pathway P:anatomical structure morphogenesis P:anterior/posterior pattern specification P:aortic valve morphogenesis P:cell differentiation P:cell fate commitment P:cell population proliferation P:determination of left/right asymmetry in lateral mesoderm P:embryonic cranial skeleton morphogenesis P:embryonic foregut morphogenesis P:endocardial cushion morphogenesis P:endoderm formation P:gastrulation P:in utero embryonic development P:insulin secretion P:intracellular signal transduction P:lung development P:mesoderm formation P:negative regulation of DNA-templated transcription P:negative regulation of cell differentiation P:negative regulation of ossification P:nodal signaling pathway P:odontoblast differentiation P:organ growth P:pancreas development P:paraxial mesoderm morphogenesis P:pericardium development P:positive regulation of BMP signaling pathway P:positive regulation of DNA-templated transcription P:positive regulation of epithelial to mesenchymal transition P:positive regulation of gene expression P:positive regulation of transcription by RNA polymerase II P:post-embryonic development P:primary miRNA processing P:pulmonary valve morphogenesis P:regulation of DNA-templated transcription P:regulation of transforming growth factor beta receptor signaling pathway P:response to cholesterol P:response to glucose P:secondary palate development P:transforming growth factor beta receptor signaling pathway P:trophoblast cell migration P:ureteric bud development P:zygotic specification of dorsal/ventral axis
    MSigDB
    MSigDB H — Hallmark gene sets (broad biological states/processes) (1)
    HALLMARK_PI3K_AKT_MTOR_SIGNALING
    MSigDB C1 — Positional gene sets (cytogenetic bands) (1)
    chr18q21
    MSigDB C2 — Curated gene sets (pathways/literature) (103)
    KEGG_MEDICUS_REFERENCE_ACTIVIN_SIGNALING_PATHWAY, HORIUCHI_WTAP_TARGETS_DN, BOYAULT_LIVER_CANCER_SUBCLASS_G3_UP, WP_AGERAGE_PATHWAY, WP_INTEGRATED_CANCER_PATHWAY, WP_HIPPO_SIGNALING_REGULATION, POMEROY_MEDULLOBLASTOMA_DESMOPLASIC_VS_CLASSIC_UP, PUJANA_BRCA1_PCC_NETWORK, TURJANSKI_MAPK1_AND_MAPK2_TARGETS, REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY, KEGG_TGF_BETA_SIGNALING_PATHWAY, PID_SMAD2_3NUCLEAR_PATHWAY, REACTOME_TRANSCRIPTIONAL_REGULATION_OF_PLURIPOTENT_STEM_CELLS, WP_HYPOTHESIZED_PATHWAYS_IN_PATHOGENESIS_OF_CARDIOVASCULAR_DISEASE, PULVER_FOREY_CELLCYCLE_PEAKING_S2, REACTOME_TGF_BETA_RECEPTOR_SIGNALING_ACTIVATES_SMADS, REACTOME_FOXO_MEDIATED_TRANSCRIPTION_OF_CELL_CYCLE_GENES, KEGG_ADHERENS_JUNCTION, WP_ENDODERM_DIFFERENTIATION, WP_LDLRAD4_AND_WHAT_WE_KNOW_ABOUT_IT, REACTOME_FORMATION_OF_DEFINITIVE_ENDODERM, KEGG_COLORECTAL_CANCER, KEGG_MEDICUS_REFERENCE_NODAL_SIGNALING_PATHWAY, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP, REACTOME_FORMATION_OF_AXIAL_MESODERM, PUJANA_ATM_PCC_NETWORK, WP_1P36_COPY_NUMBER_VARIATION_SYNDROME, FAELT_B_CLL_WITH_VH3_21_DN, YOSHIMURA_MAPK8_TARGETS_DN, KEGG_PANCREATIC_CANCER, WP_INTEGRATED_BREAST_CANCER_PATHWAY, WP_ANDROGEN_RECEPTOR_NETWORK_IN_PROSTATE_CANCER, WP_NEUROINFLAMMATION_AND_GLUTAMATERGIC_SIGNALING, WP_HDAC6_INTERACTIONS_IN_THE_CENTRAL_NERVOUS_SYSTEM, WP_UROTENSINIIMEDIATED_SIGNALING, WP_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_IN_COLORECTAL_CANCER, WP_PROGERIAASSOCIATED_LIPODYSTROPHY, REACTOME_SIGNALING_BY_ACTIVIN, WP_TGFB_SMAD_SIGNALING, WP_CELL_CYCLE, REACTOME_DISEASES_OF_SIGNAL_TRANSDUCTION_BY_GROWTH_FACTOR_RECEPTORS_AND_SECOND_MESSENGERS, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, PID_SMAD2_3PATHWAY, BLALOCK_ALZHEIMERS_DISEASE_UP, HOUNKPE_HOUSEKEEPING_GENES, WP_IL26_SIGNALING, REACTOME_FOXO_MEDIATED_TRANSCRIPTION, WP_TGFBETA_SIGNALING_IN_THYROID_CELLS_FOR_EPITHELIALMESENCHYMAL_TRANSITION, WP_EXTRACELLULAR_VESICLEMEDIATED_SIGNALING_IN_RECIPIENT_CELLS, WP_AFFECTED_PATHWAYS_IN_DUCHENNE_MUSCULAR_DYSTROPHY, REACTOME_GASTRULATION, WP_PANCREATIC_ADENOCARCINOMA_PATHWAY, WP_TGFBETA_RECEPTOR_SIGNALING_IN_SKELETAL_DYSPLASIAS, PID_TGFBR_PATHWAY, WP_REGUCALCIN_IN_PROXIMAL_TUBULE_EPITHELIAL_KIDNEY_CELLS, KEGG_MEDICUS_REFERENCE_TGF_BETA_SIGNALING_PATHWAY, WP_MESODERMAL_COMMITMENT_PATHWAY, PID_GLYPICAN_1PATHWAY, REACTOME_DOWNREGULATION_OF_TGF_BETA_RECEPTOR_SIGNALING, GU_PDEF_TARGETS_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, WP_HEPATITIS_B_INFECTION, WP_MACROPHAGESTIMULATING_PROTEIN_MSP_SIGNALING, REACTOME_RNA_POLYMERASE_II_TRANSCRIPTION, RAMALHO_STEMNESS_UP, WP_CHROMOSOMAL_AND_MICROSATELLITE_INSTABILITY_IN_COLORECTAL_CANCER, PID_MYC_REPRESS_PATHWAY, REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION, WP_CATABOLISM_OF_SKELETAL_MUSCLE_IN_CACHEXIA, WP_ENVELOPE_PROTEINS_AND_THEIR_POTENTIAL_ROLES_IN_EDMD_PHYSIOPATHOLOGY, WP_NRP1TRIGGERED_SIGNALING_IN_PANCREATIC_CANCER, WP_CANONICAL_AND_NONCANONICAL_TGFB_SIGNALING, REACTOME_GERM_LAYER_FORMATION_AT_GASTRULATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_3, WP_OVERLAP_BETWEEN_SIGNAL_TRANSDUCTION_PATHWAYS_CONTRIBUTING_TO_LMNA_LAMINOPATHIES, HOSHIDA_LIVER_CANCER_SUBCLASS_S1, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, KEGG_CELL_CYCLE, WP_NEOVASCULARIZATION_PROCESSES, WP_TGFBETA_RECEPTOR_SIGNALING, BIOCARTA_TGFB_PATHWAY, BENPORATH_PROLIFERATION, KEGG_PATHWAYS_IN_CANCER, ZAMORA_NOS2_TARGETS_UP, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX_IN_CANCER, REACTOME_SIGNALING_BY_TGFB_FAMILY_MEMBERS, WP_TGIF_DISRUPTION_OF_SHH_SIGNALING, SHEN_SMARCA2_TARGETS_UP, REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER, WP_FACTORS_AND_PATHWAYS_AFFECTING_INSULINLIKE_GROWTH_FACTOR_IGF1AKT_SIGNALING, DIAZ_CHRONIC_MYELOGENOUS_LEUKEMIA_UP, REACTOME_SIGNALING_BY_NODAL, WP_INFLAMMATORY_BOWEL_DISEASE_SIGNALING, REACTOME_DEUBIQUITINATION, KEGG_WNT_SIGNALING_PATHWAY, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, WP_TH17_CELL_DIFFERENTIATION_PATHWAY, REACTOME_FOXO_MEDIATED_TRANSCRIPTION_OF_OXIDATIVE_STRESS_METABOLIC_AND_NEURONAL_GENES, WP_CANCER_PATHWAYS, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_UP, REACTOME_UB_SPECIFIC_PROCESSING_PROTEASES, REACTOME_LOSS_OF_FUNCTION_OF_SMAD2_3_IN_CANCER
    MSigDB C3 — Regulatory target sets (TF & miRNA targets) (121)
    MIR3122, ZNF549_TARGET_GENES, GCACCTT_MIR18A_MIR18B, MIR208A_5P, MYCMAX_01, MIR6878_5P, MIR103A_2_5P, MIR30D_3P, MIR3913_3P, MIR18A_5P_MIR18B_5P, MIR3184_3P, GGGTGGRR_PAX4_03, MIR95_5P, MIR548BA, MIR769_5P, MIR3942_3P, MIR450A_1_3P, ALPHACP1_01, MIR12124, MIR4422, MIR142_5P, MIR4799_5P, MIR93_3P, KLF7_TARGET_GENES, MIR3671, NFY_Q6, MIR3714, MIR208B_5P, MIR6868_3P, NFY_01, MIR302A_5P, MIR365A_5P, MIR3692_5P, MIR374B_3P, MIR365B_5P, ZNF282_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR216A_3P, MIR3919, MIR497_3P, MIR9500, MIR6134, GGTGTGT_MIR329, MIR4496, MIR223_5P, MIR4305, MIR4735_3P, MIR520D_5P, MIR5590_3P, CCAATNNSNNNGCG_UNKNOWN, ZNF423_TARGET_GENES, MIR551B_5P, MIR4272, MAX_01, MIR8485, MIR5004_5P, MIR224_3P, MIR520E_5P, MIR4719, MIR1264, ZNF407_TARGET_GENES, MIR340_5P, MIR4773, MIR624_3P, MIR656_3P, MIR1910_3P, MIR3679_3P, CAGCACT_MIR5123P, MIR5584_5P, GATTGGY_NFY_Q6_01, MIR4761_5P, MIR4724_3P, MIR3121_3P, AHRR_TARGET_GENES, MIR190B_3P, NFY_Q6_01, MIR6074, MIR155_5P, MIR409_3P, ZNF592_TARGET_GENES, MIR12136, MIR6792_5P, MIR3065_5P, MIR607, MIR30E_3P, MIR302D_5P, MIR34C_3P, SMARCA1_TARGET_GENES, MIR3913_5P, CEBPZ_TARGET_GENES, MIR374B_5P, MIR128_3P, GCTNWTTGK_UNKNOWN, HMX1_01, MIR524_5P, MIR6731_5P, MIR548AI_MIR570_5P, MIR1302, MIR5692B_MIR5692C, MYCMAX_02, MIR8085, MIR1237_3P, POU2AF1_TARGET_GENES, MIR5002_5P, MIR498_3P, MIR6511A_5P, MIR7159_5P, MIR522_3P, MIR103A_1_5P, MIR6716_5P, TOP2B_TARGET_GENES, NFY_C, MIR302B_5P, MIR374A_5P, MIR30A_3P, AGCACTT_MIR93_MIR302A_MIR302B_MIR302C_MIR302D_MIR372_MIR373_MIR520E_MIR520A_MIR526B_MIR520B_MIR520C_MIR520D, AACTTT_UNKNOWN, CACGTG_MYC_Q2, MIR767_3P, MIR548AG, MIR4298
    MSigDB C4 — Computational gene sets (co-expression/other) (14)
    MORF_DDB1, MORF_PRKAG1, GCM_UBE2N, MORF_TERF2IP, MORF_BECN1, GCM_DFFA, MORF_TPR, MORF_UBE2A, MORF_PPP2R5E, GCM_MAX, GCM_ZNF198, MORF_RAB1A, MORF_SS18, MORF_RAB11A
    MSigDB C6 — Oncogenic signatures (1)
    SNF5_DN.V1_UP
    MSigDB C7 — Immunologic signatures (66)
    GSE2770_TGFB_AND_IL4_VS_IL4_TREATED_ACT_CD4_TCELL_6H_UP, GSE22025_UNTREATED_VS_TGFB1_TREATED_CD4_TCELL_UP, NAKAYA_B_CELL_FLUARIX_FLUVIRIN_AGE_18_50YO_7DY_UP, GSE5099_MONOCYTE_VS_CLASSICAL_M1_MACROPHAGE_DN, GSE411_WT_VS_SOCS3_KO_MACROPHAGE_DN, GSE17721_LPS_VS_CPG_24H_BMDC_DN, GSE21063_CTRL_VS_ANTI_IGM_STIM_BCELL_NFATC1_KO_3H_UP, GSE27786_ERYTHROBLAST_VS_NEUTROPHIL_DN, GSE37301_COMMON_LYMPHOID_PROGENITOR_VS_CD4_TCELL_DN, GSE23308_WT_VS_MINERALCORTICOID_REC_KO_MACROPHAGE_DN, GSE27786_NKTCELL_VS_MONO_MAC_DN, GSE29618_PRE_VS_DAY7_FLU_VACCINE_PDC_DN, GSE9006_HEALTHY_VS_TYPE_1_DIABETES_PBMC_AT_DX_UP, GSE18281_MEDULLARY_THYMOCYTE_VS_WHOLE_MEDULLA_THYMUS_DN, GSE2770_TGFB_AND_IL4_ACT_VS_ACT_CD4_TCELL_6H_UP, GSE11961_GERMINAL_CENTER_BCELL_DAY7_VS_PLASMA_CELL_DAY7_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_72H_ACT_CD4_TCELL_UP, GSE22886_TH1_VS_TH2_48H_ACT_DN, GSE6566_STRONG_VS_WEAK_DC_STIMULATED_CD4_TCELL_DN, GSE4984_GALECTIN1_VS_VEHICLE_CTRL_TREATED_DC_UP, GSE12198_LOW_IL2_STIM_NK_CELL_VS_HIGH_IL2_STIM_NK_CELL_UP, GSE8515_CTRL_VS_IL6_4H_STIM_MAC_UP, GSE411_UNSTIM_VS_100MIN_IL6_STIM_SOCS3_KO_MACROPHAGE_UP, GSE46468_LUNG_INNATE_LYMPHOID_CELL_VS_SPLEEN_CD4_TCELL_UP, GSE17721_12H_VS_24H_POLYIC_BMDC_UP, GSE17721_CTRL_VS_GARDIQUIMOD_4H_BMDC_DN, GSE17721_LPS_VS_CPG_6H_BMDC_UP, GSE17721_LPS_VS_GARDIQUIMOD_24H_BMDC_DN, GSE29949_CD8_POS_DC_SPLEEN_VS_DC_BRAIN_UP, GSE11864_UNTREATED_VS_CSF1_IN_MAC_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_12H_ACT_CD4_TCELL_UP, GSE36009_UNSTIM_VS_LPS_STIM_DC_DN, GSE40274_CTRL_VS_FOXP3_AND_HELIOS_TRANSDUCED_ACTIVATED_CD4_TCELL_UP, GSE15930_STIM_VS_STIM_AND_IFNAB_72H_CD8_T_CELL_DN, GSE15624_CTRL_VS_3H_HALOFUGINONE_TREATED_CD4_TCELL_UP, GSE37301_COMMON_LYMPHOID_PROGENITOR_VS_PRO_BCELL_DN, GSE8868_SPLEEN_VS_INTESTINE_CD11B_POS_CD11C_NEG_DC_UP, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_UP, GSE27786_LIN_NEG_VS_CD4_TCELL_DN, GSE36078_WT_VS_IL1R_KO_LUNG_DC_UP, GSE339_EX_VIVO_VS_IN_CULTURE_CD8POS_DC_UP, GSE37416_12H_VS_24H_F_TULARENSIS_LVS_NEUTROPHIL_DN, GSE14908_RESTING_VS_HDM_STIM_CD4_TCELL_NONATOPIC_PATIENT_UP, GSE1460_INTRATHYMIC_T_PROGENITOR_VS_NAIVE_CD4_TCELL_CORD_BLOOD_UP, GSE29949_DC_BRAIN_VS_MONOCYTE_BONE_MARROW_UP, GSE11818_WT_VS_DICER_KO_TREG_DN, GSE5589_LPS_VS_LPS_AND_IL10_STIM_IL10_KO_MACROPHAGE_180MIN_DN, GSE22025_PROGESTERONE_VS_TGFB1_AND_PROGESTERONE_TREATED_CD4_TCELL_DN, GSE15930_STIM_VS_STIM_AND_TRICHOSTATINA_24H_CD8_T_CELL_DN, GSE7831_UNSTIM_VS_INFLUENZA_STIM_PDC_1H_DN, NAKAYA_PLASMACYTOID_DENDRITIC_CELL_FLUARIX_FLUVIRIN_AGE_18_50YO_7DY_UP, GSE22886_IL2_VS_IL15_STIM_NKCELL_DN, GSE17721_CTRL_VS_GARDIQUIMOD_2H_BMDC_DN, GSE17721_POLYIC_VS_CPG_4H_BMDC_DN, GSE14769_UNSTIM_VS_40MIN_LPS_BMDM_DN, GSE339_CD4POS_VS_CD8POS_DC_DN, GSE2770_UNTREATED_VS_TGFB_AND_IL4_TREATED_ACT_CD4_TCELL_2H_DN, GSE26030_TH1_VS_TH17_RESTIMULATED_DAY15_POST_POLARIZATION_DN, GSE6090_UNSTIM_VS_DC_SIGN_STIM_DC_UP, GSE5589_IL6_KO_VS_IL10_KO_LPS_AND_IL10_STIM_MACROPHAGE_180MIN_DN, GSE22935_WT_VS_MYD88_KO_MACROPHAGE_12H_MBOVIS_BCG_STIM_DN, GSE40274_FOXP3_VS_FOXP3_AND_SATB1_TRANSDUCED_ACTIVATED_CD4_TCELL_DN, GSE5589_WT_VS_IL6_KO_LPS_AND_IL10_STIM_MACROPHAGE_45MIN_DN, GSE15930_STIM_VS_STIM_AND_TRICHOSTATINA_72H_CD8_T_CELL_DN, GSE17721_12H_VS_24H_CPG_BMDC_UP, GSE29618_PRE_VS_DAY7_POST_TIV_FLU_VACCINE_PDC_DN
    Open Targets
    is_essential: false
    Disease annotations (810)
    Overgrowth, Abnormality of the cardiovascular system, Mitral valve prolapse, Congestive heart failure, Patent ductus arteriosus, Dilated cardiomyopathy, Bicuspid aortic valve, Myocardial fibrosis, Increased total eosinophil count, Thrombocytosis, Anemia, Acute kidney injury, Glucose intolerance, Pulmonary hypoplasia, Pneumonia, Asthma, Ischemic stroke, Cerebral ischemia, Vascular dilatation, Aortic dissection, Systemic lupus erythematosus, Autoimmunity, Hyperglycemia, Hyperlipidemia, Hypercholesterolemia, Skeletal muscle atrophy, Muscular dystrophy, Cachexia, Thrombophlebitis, Miscarriage, Ureteral obstruction, Airway obstruction, Amyotrophic lateral sclerosis, Peripheral demyelination, Inflammatory abnormality of the skin, Arrhythmia, Myelofibrosis, Hepatitis, Reduced sperm motility, Urethral stricture, Renal atrophy, Cervical polyp, Shock, Granuloma, Chronic colitis, Neoplasm of the lung, Cognitive impairment, Sepsis, geleophysic dysplasia, colorectal adenoma, airway hyperresponsiveness, skin aging, triple-negative breast cancer, bile duct carcinoma, glioma, hydronephrosis, rectal adenocarcinoma, intracerebral hemorrhage, renal cell adenocarcinoma, Autoimmune Hepatitis, neurodegenerative disease, brain disease, aortic disease, allergic rhinitis, esophageal squamous cell carcinoma, head and neck neoplasia, breast ductal adenocarcinoma, laryngeal squamous cell carcinoma, ovarian adenocarcinoma, ovarian mucinous adenocarcinoma, ovarian teratoma, bladder transitional cell carcinoma, brain glioblastoma, dysplastic oral keratinocyte, undifferentiated carcinoma, cerebral amyloid angiopathy, head and neck malignant neoplasia, breastfeeding duration, urgency urinary incontinence, fibrosis, Balkan nephropathy, congenital rubella, echinococcosis, Gerstmann syndrome, inclusion body myositis, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10, severe neurodegenerative syndrome with lipodystrophy, Diamond-Blackfan anemia, cardiofaciocutaneous syndrome, adrenomyeloneuropathy, hereditary sensory and autonomic neuropathy, nasopharyngeal carcinoma, keratoconus, dentin dysplasia, T-cell non-Hodgkin lymphoma, dyskeratosis congenita, pneumoconiosis, early myoclonic encephalopathy, laryngotracheoesophageal cleft, cleft palate, cryopyrin-associated periodic syndrome, holoprosencephaly, pachyonychia congenita, familial rhabdoid tumor, familial hyperaldosteronism, primary ciliary dyskinesia, meningioma, pilocytic astrocytoma, hemangioblastoma, microcephaly-brain defect-spasticity-hypernatremia syndrome, thanatophoric dysplasia, idiopathic pulmonary arterial hypertension, heritable pulmonary arterial hypertension, juvenile polyposis syndrome, congenital herpes simplex virus infection, popliteal pterygium syndrome, ameloblastoma, hypersensitivity pneumonitis, persistent truncus arteriosus, colorectal adenocarcinoma, Crohn's disease, cutaneous melanoma, diabetes mellitus, diabetic nephropathy, diffuse gastric adenocarcinoma, diffuse large B-cell lymphoma, breast ductal carcinoma in situ, emphysema, epilepsy, esophageal adenocarcinoma, fetal growth restriction, follicular thyroid adenoma, ganglioneuroma, follicular thyroid carcinoma, gastric adenocarcinoma, gastric intestinal type adenocarcinoma, genetic disorder, germ cell tumor, glioblastoma multiforme, hypertrophic cardiomyopathy, immune system disease, infection, infertility, injury, insulinoma, intracranial hemorrhage, ischemia, large cell neuroendocrine carcinoma, leukemia, lung adenocarcinoma, lymphoma, mesothelioma, metabolic disease, myocardial infarction, neoplasm, nervous system disease, neuroblastoma, oligodendroglioma, osteosarcoma, neural tube defect, tuberculosis, glioblastoma, carcinoma of liver and intrahepatic biliary tract, hereditary nonpolyposis colon cancer, Zika virus infectious disease, left ventricular noncompaction, multiminicore myopathy, Loeys-Dietz syndrome, neurofibromatosis type 1, Leber congenital amaurosis, osteogenesis imperfecta, progressive supranuclear palsy, intrahepatic cholestasis, lymphedema, posterior cortical atrophy, follicular lymphoma, kidney Wilms tumor, bronchopulmonary dysplasia, sarcoidosis, peeling skin syndrome, lissencephaly with cerebellar hypoplasia, aggressive NK-cell leukemia, adult T-cell leukemia/lymphoma, extranodal nasal NK/T cell lymphoma, Turner syndrome, familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, muscular dystrophy, precursor B-cell acute lymphoblastic leukemia, superficial spreading melanoma, lung neoplasm, intestinal neoplasm, odontogenic neoplasm, disorder of ear, endometrium neoplasm, prostate neoplasm, mucoepidermoid carcinoma of parotid gland, carcinoma of pharynx, polyp of colon, low grade glioma, corticobasal degeneration disorder, cervical intraepithelial neoplasia, viral myocarditis, lip and oral cavity carcinoma, corneal infection, pseudoxanthoma elasticum (inherited or acquired), chondrogenic neoplasm, intraepithelial neoplasia, squamous cell intraepithelial neoplasia, liver and intrahepatic bile duct neoplasm, hypertensive nephropathy, myocardial disorder, tubular adenoma, pulmonary sarcoidosis, gonorrhea, B-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, gastric carcinoma, head and neck squamous cell carcinoma, hepatocellular carcinoma, Hodgkins lymphoma, invasive breast ductal carcinoma, metabolic syndrome, myelodysplastic syndrome, oral squamous cell carcinoma, gastritis, acute lymphoblastic leukemia, acute myeloid leukemia, acute promyelocytic leukemia, adenocarcinoma, adenoma, age, aortic stenosis, astrocytoma, atopic eczema, atrial fibrillation, Barrett's esophagus, benign prostatic hyperplasia, bladder tumor, breast adenocarcinoma, breast carcinoma, bronchoalveolar adenocarcinoma, carcinoma, cardiomyopathy, cardiovascular disease, central nervous system cancer, chondrosarcoma, chromophobe renal cell carcinoma, chronic myelogenous leukemia, chronic obstructive pulmonary disease, clear cell renal carcinoma, endometrial carcinoma, ovarian serous carcinoma, renal fibrosis, Abruptio Placentae, Adenomyosis, Carcinoma, Lewis Lung, chronic myelomonocytic leukemia, Marchiafava-Bignami Disease, oral submucous fibrosis, osteoradionecrosis, renal nutcracker syndrome, amyloidosis, mucositis, neuroendocrine neoplasm, neuromuscular disease, oral mucositis, Spinal cord injury, cutaneous squamous cell carcinoma, Barrett adenocarcinoma, colon adenocarcinoma, colon carcinoma, colorectal carcinoma, pharyngeal squamous cell carcinoma, soft tissue sarcoma, undifferentiated pleomorphic sarcoma, connective tissue disease, pneumonitis, intrahepatic cholangiocarcinoma, chronic rhinosinusitis with nasal polyps, chronic rhinosinusitis without nasal polyps, glomerular disease, nephritis, Neurogenic bladder, Glomerular sclerosis, Glomerulonephritis, Nephropathy, Uterine leiomyoma, Cleft palate, Hydrocephalus, Cataract, Myopia, Autism, Infertility, Diabetes mellitus, Insulin resistance, Osteoporosis, Hyperkeratosis, Intellectual disability, Ataxia, Mental deterioration, Stroke, Rheumatoid arthritis, Cirrhosis, Hepatic fibrosis, Hepatic steatosis, Obesity, mixed connective tissue disease, pneumocystosis, pseudomyxoma peritonei, silicosis, toxoplasmosis, hemoglobin A1 measurement, BMI-adjusted waist-hip ratio, liver dysplastic nodule, gut microbiome measurement, platelet crit, allergen exposure measurement, calf circumference measurement, dysplasia, lobular breast carcinoma, nodular melanoma, non-functioning pituitary adenoma, status epilepticus, steatosis, urothelial carcinoma, digestive system neoplasm, Hepatobiliary Neoplasm, American trypanosomiasis, acute myocardial infarction, pemphigus foliaceus, cystic kidney disease, Polycystic Kidney Disease, arteriosclerosis, hyperuricemia, skin carcinoma, heel bone mineral density, pulmonary fibrosis, hyperaldosteronism, gastric ulcer, infarction, aortic valve disease, heart valve disease, mitral valve disease, urinary tract obstruction, prostate disease, stomach disease, myocarditis, aneurysm, enthesopathy, musculoskeletal system disease, metastasis, Gallbladder Adenocarcinoma, Granular Cell Tumor, Hepatoblastoma, HER2 Positive Breast Carcinoma, Invasive Breast Carcinoma, Malignant Mesothelioma, Malignant Pancreatic Neoplasm, Medullomyoblastoma with Myogenic Differentiation, Microcystic Meningioma, Mixed Tumor of the Salivary Gland, Nasal Cavity Polyp, Osteoblastoma, Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation, Ovarian Endometriosis, Paraganglioma, Placental Choriocarcinoma, Rectal Tubular Adenoma, Sarcomatoid Carcinoma, Signet Ring Cell Gastric Adenocarcinoma, Synovial Chondromatosis, Testicular Non-Seminomatous Germ Cell Tumor, Testicular Yolk Sac Tumor, Thyroid Gland Undifferentiated (Anaplastic) Carcinoma, Uterine Carcinosarcoma, Vulvar Squamous Cell Carcinoma, acute respiratory distress syndrome, sarcopenia, rectum cancer, acanthosis nigricans, mucous membrane pemphigoid, punctate palmoplantar keratoderma type III, adrenal cortex carcinoma, alcoholic liver cirrhosis, atrophic gastritis, dental fluorosis, dry eye syndrome, Helicobacter pylori infectious disease, inflammatory breast carcinoma, multiple system atrophy, myeloid sarcoma, nodular goiter, periapical granuloma, pulmonary edema, renovascular hypertension, retinopathy of prematurity, rheumatic heart disease, thromboangiitis obliterans, tooth disease, uremia, non-alcoholic steatohepatitis, Cryptogenic Organizing Pneumonia, Fascioliasis, Follicular Cyst, Heavy Chain Disease, Hepatopulmonary Syndrome, Myocardial Ischemia, Pelvic Inflammatory Disease, Periapical Periodontitis, Peritoneal Fibrosis, Pneumonia, Aspiration, Respiratory Syncytial Virus Infection, diabetic cardiomyopathy, diabetic foot, endothelial dysfunction, Mantle cell lymphoma, Merkel cell skin cancer, schistosomiasis, abortion, Autosomal dominant polycystic kidney disease, osteoporosis-pseudoglioma syndrome, Bartsocas-Papas syndrome 1, congenital bilateral aplasia of vas deferens from CFTR mutation, SHOX-related short stature, intellectual disability, X-linked syndromic, Turner type, Fabry disease, X-linked corneal dermoid, Aarskog-Scott syndrome, X-linked, holoprosencephaly-hypokinesia-congenital contractures syndrome, Melnick-Needles syndrome, Duchenne muscular dystrophy, X-linked retinoschisis, Wilson disease, adenomyosis, Timothy syndrome, supranuclear palsy, progressive, 1, Ehlers-Danlos syndrome, musculocontractural type, tetrasomy 12p, sickle cell anemia, hypotonia-cystinuria syndrome, lymphangioleiomyomatosis, gastrointestinal stromal tumor, autoimmune lymphoproliferative syndrome type 2B, endometrial cancer, Loeys-Dietz syndrome 1, hyperinsulinemic hypoglycemia, familial, 4, preterm premature rupture of the membranes, Mungan syndrome, Crouzon syndrome-acanthosis nigricans syndrome, papillary renal cell carcinoma, papillary thyroid carcinoma, periodontitis, polycystic ovary syndrome, preeclampsia, prostate adenocarcinoma, psoriasis, pterygium, renal cell carcinoma, rheumatoid arthritis, sarcoma, severe acute respiratory syndrome, small cell lung carcinoma, squamous cell carcinoma, squamous cell lung carcinoma, spondyloarthropathy, stroke, subarachnoid hemorrhage, systemic scleroderma, ulcerative colitis, melanoma, hepatocellular adenoma, viral disease, HIV infection, idiopathic pulmonary fibrosis, malignant pleural mesothelioma, bacterial disease, pneumococcal infection, temporal lobe epilepsy, celiac disease, cervical carcinoma, cytomegalovirus infection, endometriosis, experimental autoimmune encephalomyelitis, parasitic infection, malaria, folate deficiency, lung carcinoma, ovarian carcinoma, familial amyotrophic lateral sclerosis, pulmonary arterial hypertension, age-related macular degeneration, synovial sarcoma, cerebral creatine deficiency syndrome, arterial disorder, glomerulosclerosis, villous adenoma, mucosal melanoma, ovarian clear cell cancer, central nervous system primitive neuroectodermal neoplasm, Crohn ileitis, vertebral column disorder, endometrial disorder, gastric cancer, penile cancer, myopia, pulmonary alveolar proteinosis, Chagas disease, leiomyoma, brain cancer, tuberous sclerosis, sick sinus syndrome, arteriovenous hemangioma/malformation, hypertensive heart disease, head and neck carcinoma, depressive disorder, pneumothorax, Richter syndrome, peritoneum cancer, thyroid cancer, disorder of sexual differentiation, vulvar melanoma, papilloma, rectosigmoid junction neoplasm, Treacher-Collins syndrome, prostatic acinar adenocarcinoma, gingival overgrowth, inherited lipid metabolism disorder, skin squamous cell carcinoma, teratoma, bone inflammation disease, extraosseous osteosarcoma, chondroblastic osteosarcoma, cerebral infarction, liver cancer, uterine cancer, lung benign neoplasm, skin cancer, cervical cancer, seminoma, breast angiosarcoma, cerebellar pilocytic astrocytoma, salivary gland adenoid cystic carcinoma, bile duct adenocarcinoma, gastroesophageal junction adenocarcinoma, thoracic cancer, acral lentiginous melanoma, endometrial mixed adenocarcinoma, female breast carcinoma, inflammation, erythrocyte volume, glomerular filtration rate, bone tissue density, progesterone amount, serum alanine aminotransferase amount, serum urea amount, serum creatinine amount, body height, cyst, Hypotonia - cystinuria syndrome, Chédiak-Higashi syndrome, Åland Islands eye disease, Hydrocephalus with stenosis of the aqueduct of Sylvius, Autoimmune lymphoproliferative syndrome with recurrent viral infections, Rare disease with thoracic aortic aneurysm and aortic dissection, Persistent Müllerian duct syndrome, WHIM syndrome, Familial adenomatous polyposis, Other metabolic disease, hematocrit, C-reactive protein measurement, hematological measurement, alkaline phosphatase measurement, cryptorchidism, lymphocyte count, gestational diabetes, acute lung injury, serum gamma-glutamyl transferase measurement, HbA1c measurement, high density lipoprotein cholesterol measurement, osteoarthritis, knee, wet macular degeneration, insomnia, hypothyroidism, pelvic organ prolapse, metabolite measurement, eosinophil count, lymph node metastatic carcinoma, embryonal carcinoma, lumbar disc degeneration, lean body mass, type 2 diabetes nephropathy, monocyte count, autoimmune disease, congenital heart disease, cholangiocarcinoma, human african trypanosomiasis, reading, congenital heart malformation, temporomandibular joint disorder, axial length measurement, myeloid leukemia, lupus erythematosus, allergic asthma, fatty liver disease, Alzheimer disease, asthma, urinary bladder carcinoma, cancer, glaucoma, schizophrenia, cataract, type 1 diabetes mellitus, type 2 diabetes mellitus, pulmonary hypertension, osteoarthritis, pancreatic ductal adenocarcinoma, bacterial urinary tract infection, multiple sclerosis, skin basal cell carcinoma, brain glioma, colorectal cancer, Wilms tumor, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, breast cancer, congenital contractural arachnodactyly, Duane retraction syndrome, dyschromatosis symmetrica hereditaria, metastatic malignant neoplasm, Loeys-Dietz syndrome 6, cervical squamous intraepithelial neoplasia, leukoplakia, spinal cord injury, ulcer disease, desmoplastic melanoma, myelofibrosis, oral cavity carcinoma, rectal carcinoma, hydrocephalus, congenital, 3, with brain anomalies, nasal cavity and paranasal sinus carcinoma, COVID-19, Dravet syndrome, COVID-19–associated multisystem inflammatory syndrome in adults, disease arising from reactivation of latent virus, Friedreich ataxia, malignant glioma, achalasia-alacrima syndrome, metabolic bone disorder, congenital heart defects, multiple types, 8, with or without heterotaxy, postmenopausal osteoporosis, intestinal polyp, dissection, uterine neoplasm, pancreatic neoplasm, kidney neoplasm, breast neoplasm, brain aneurysm, colitis, osteoporosis, chronic kidney disease, ovarian neoplasm, acne, stomach neoplasm, ankylosing spondylitis, ciliopathy, deep vein thrombosis, obstructive sleep apnea, necrotizing enterocolitis, relapsing-remitting multiple sclerosis, angiosarcoma, colorectal neoplasm, atherosclerosis, open-angle glaucoma, androgenetic alopecia, basal cell carcinoma, IGA glomerulonephritis, hepatitis B virus infection, skin neoplasm, Keloid, Abdominal Aortic Aneurysm, chronic hepatitis C virus infection, eosinophilic esophagitis, focal segmental glomerulosclerosis, interstitial lung disease, mucocutaneous lymph node syndrome, myeloproliferative disorder, nephrotic syndrome, vascular disease, thoracic aortic aneurysm, venous thromboembolism, platelet count, body mass index, neuroimaging measurement, metastatic neoplasm, whole body water mass, kidney injury, bone metastasis, gastrointestinal disease, aspartate aminotransferase to alanine aminotransferase ratio, urea measurement, viral load, 2-hydroxyacetaminophen sulfate measurement, aging, serum lipopolysaccharide activity, cecum adenocarcinoma, chronic rhinosinusitis, cystitis, ependymoma, granulosa cell tumor, metaplastic breast carcinoma, ovarian clear cell adenocarcinoma, pancreatic adenocarcinoma, pancreatic neuroendocrine tumor, ACTH-Producing Pituitary Gland Adenoma, Adenomatoid Odontogenic Tumor, Ampulla of Vater Carcinoma, Anal Squamous Cell Carcinoma, Anaplastic (Malignant) Meningioma, Appendix Adenocarcinoma, Appendix Goblet Cell Carcinoid, Atrophy, Atypical Meningioma, Bladder Small Cell Neuroendocrine Carcinoma, Breast Carcinoma by Gene Expression Profile, cervical squamous cell carcinoma, Columnar Cell Hyperplasia of the Breast, Duodenal Adenocarcinoma, Endometrial Clear Cell Adenocarcinoma, Endometrial Endometrioid Adenocarcinoma, Extramammary Paget Disease, fibrodysplasia ossificans progressiva, hereditary diffuse gastric adenocarcinoma, Holt-Oram syndrome, Huntington disease, Pallister-Hall syndrome, Nager acrofacial dysostosis, Marfan syndrome, Cowden syndrome 1, nail-patella syndrome, ovarian cancer, Andersen-Tawil syndrome, polyostotic fibrous dysplasia, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, nonpapillary renal cell carcinoma, Mobius syndrome, Peyronie disease, prostate cancer, retinoblastoma, acrodermatitis enteropathica, mitochondrial DNA depletion syndrome 4a, Alstrom syndrome, anencephaly 1, microphthalmia with limb anomalies, Bloom syndrome, lung cancer, cerebrotendinous xanthomatosis, cystic fibrosis, recessive dystrophic epidermolysis bullosa, Haim-Munk syndrome, Laurence-Moon syndrome, Nijmegen breakage syndrome, Miyoshi myopathy, Schwartz-Jampel syndrome, Leigh syndrome, multiple myeloma, cervical adenocarcinoma, liver disease, cirrhosis of liver, ischemic cardiomyopathy, lymphoid neoplasm, coronary artery disease, prostate carcinoma, aortic aneurysm, fibrosarcoma, hypertrophy, actinic keratosis, anaplastic astrocytoma, anaplastic oligodendroglioma, cardiac hypertrophy, AIDS dementia, pancreatic carcinoma, prostate intraepithelial neoplasia, thyroid carcinoma, insulin resistance, esophageal carcinoma, ovarian serous adenocarcinoma, rhabdomyosarcoma, medulloblastoma, acute megakaryoblastic leukaemia, hepatitis C virus infection, non-small cell lung carcinoma, pleomorphic liposarcoma, kidney disease, non-alcoholic fatty liver disease, Pick disease, testicular seminoma, osteomyelitis, spina bifida, heart failure, vitamin D deficiency, inflammatory bowel disease, diabetic retinopathy, heart disease, psoriatic arthritis, lung disease, dental caries, serous adenocarcinoma, retinopathy, adrenal gland neoplasm
    tissue_specific_expression
    frontal lobe-1
    endothelial cell of umbilical vein (resting)2
    zone of skin0
    regulatory T cell1
    pancreas-1
    suprapubic skin-1
    temporal lobe-1
    parathyroid gland-1
    spleen-1
    Brodmann (1909) area 9-1
    breast-1
    Brodmann (1909) area 24-1
    alternatively activated macrophage2
    segmented neutrophil of bone marrow4
    placenta-1
    mature eosinophil1
    granulocyte monocyte progenitor cell0
    gall bladder-1
    esophagus muscularis mucosa-1
    seminal vesicle-1
    endocervix-1
    lower leg skin-1
    megakaryocyte-erythroid progenitor cell0
    endothelial cell of umbilical vein (proliferating)2
    CD8-positive, alpha-beta T cell3
    cerebral cortex-1
    CD34-negative, CD41-positive, CD42-positive megakaryocyte cell4
    hippocampus proper-1
    uterus-1
    CD4-positive, alpha-beta T cell3
    tonsil-1
    esophagus0
    transverse colon-1
    pituitary gland-1
    coronary artery-1
    memory B cell0
    sigmoid colon-1
    cerebellum-1
    erythroblast2
    prefrontal cortex-1
    nucleus accumbens-1
    adipose tissue0
    effector memory CD8-positive, alpha-beta T cell1
    vermiform appendix-1
    greater omentum-1
    hematopoietic multipotent progenitor cell1
    leukocyte2
    adrenal gland-1
    atrium auricular region-1
    thyroid gland0
    tibial artery-1
    common lymphoid progenitor3
    urinary bladder-1
    duodenum-1
    heart muscle-1
    small intestine-1
    neutrophilic metamyelocyte3
    minor salivary gland-1
    rectum0
    ovary-1
    substantia nigra-1
    subcutaneous adipose tissue-1
    class switched memory B cell1
    fallopian tube-1
    esophagus mucosa-1
    CD38-negative naive B cell0
    bronchus-1
    EBV-transformed lymphocyte0
    small intestine Peyer's patch-1
    kidney-1
    hippocampus-1
    macrophage1
    aorta-1
    skeletal muscle tissue-1
    CD3-positive, CD4-positive, CD8-positive, double positive thymocyte4
    caudate-putamen-1
    liver-1
    cytotoxic CD56-dim natural killer cell2
    mature neutrophil2
    hypothalamus-1
    transformed skin fibroblast-1
    bone marrow-1
    inflammatory macrophage0
    cortex of kidney-1
    lung-1
    epididymis-1
    abdomen-1
    saliva-secreting gland-1
    nasopharynx-1
    colon0
    cerebellar hemisphere-1
    stomach-1
    testis-1
    smooth muscle tissue0
    putamen-1
    CD4-positive, alpha-beta thymocyte5
    C1 segment of cervical spinal cord0
    blood-1
    hematopoietic stem cell1
    caudate nucleus-1
    amygdala-1
    brain0
    central memory CD8-positive, alpha-beta T cell1
    effector memory CD4-positive, alpha-beta T cell1
    ectocervix-1
    prostate gland-1
    conventional dendritic cell4
    central memory CD4-positive, alpha-beta T cell1
    heart left ventricle-1
    CD14-positive, CD16-negative classical monocyte0
    vagina-1
    esophagogastric junction-1
    lymph node-1
    endometrium-1
    heart-1
    oral mucosa-1
    CD8-positive, alpha-beta thymocyte4
    common myeloid progenitor0
    tibial nerve-1
    plasma cell-1
    genetic_constraint
    syn0.11195000261068344
    mis4.47730016708374
    lof1
    Tissue-specific expression
    frontal lobe-1
    endothelial cell of umbilical vein (resting)2
    zone of skin0
    regulatory T cell1
    pancreas-1
    suprapubic skin-1
    temporal lobe-1
    parathyroid gland-1
    spleen-1
    Brodmann (1909) area 9-1
    breast-1
    Brodmann (1909) area 24-1
    alternatively activated macrophage2
    segmented neutrophil of bone marrow4
    placenta-1
    mature eosinophil1
    granulocyte monocyte progenitor cell0
    gall bladder-1
    esophagus muscularis mucosa-1
    seminal vesicle-1
    endocervix-1
    lower leg skin-1
    megakaryocyte-erythroid progenitor cell0
    endothelial cell of umbilical vein (proliferating)2
    CD8-positive, alpha-beta T cell3
    cerebral cortex-1
    CD34-negative, CD41-positive, CD42-positive megakaryocyte cell4
    hippocampus proper-1
    uterus-1
    CD4-positive, alpha-beta T cell3
    tonsil-1
    esophagus0
    transverse colon-1
    pituitary gland-1
    coronary artery-1
    memory B cell0
    sigmoid colon-1
    cerebellum-1
    erythroblast2
    prefrontal cortex-1
    nucleus accumbens-1
    adipose tissue0
    effector memory CD8-positive, alpha-beta T cell1
    vermiform appendix-1
    greater omentum-1
    hematopoietic multipotent progenitor cell1
    leukocyte2
    adrenal gland-1
    atrium auricular region-1
    thyroid gland0
    tibial artery-1
    common lymphoid progenitor3
    urinary bladder-1
    duodenum-1
    heart muscle-1
    small intestine-1
    neutrophilic metamyelocyte3
    minor salivary gland-1
    rectum0
    ovary-1
    substantia nigra-1
    subcutaneous adipose tissue-1
    class switched memory B cell1
    fallopian tube-1
    esophagus mucosa-1
    CD38-negative naive B cell0
    bronchus-1
    EBV-transformed lymphocyte0
    small intestine Peyer's patch-1
    kidney-1
    hippocampus-1
    macrophage1
    aorta-1
    skeletal muscle tissue-1
    CD3-positive, CD4-positive, CD8-positive, double positive thymocyte4
    caudate-putamen-1
    liver-1
    cytotoxic CD56-dim natural killer cell2
    mature neutrophil2
    hypothalamus-1
    transformed skin fibroblast-1
    bone marrow-1
    inflammatory macrophage0
    cortex of kidney-1
    lung-1
    epididymis-1
    abdomen-1
    saliva-secreting gland-1
    nasopharynx-1
    colon0
    cerebellar hemisphere-1
    stomach-1
    testis-1
    smooth muscle tissue0
    putamen-1
    CD4-positive, alpha-beta thymocyte5
    C1 segment of cervical spinal cord0
    blood-1
    hematopoietic stem cell1
    caudate nucleus-1
    amygdala-1
    brain0
    central memory CD8-positive, alpha-beta T cell1
    effector memory CD4-positive, alpha-beta T cell1
    ectocervix-1
    prostate gland-1
    conventional dendritic cell4
    central memory CD4-positive, alpha-beta T cell1
    heart left ventricle-1
    CD14-positive, CD16-negative classical monocyte0
    vagina-1
    esophagogastric junction-1
    lymph node-1
    endometrium-1
    heart-1
    oral mucosa-1
    CD8-positive, alpha-beta thymocyte4
    common myeloid progenitor0
    tibial nerve-1
    plasma cell-1
    Transcripts (5)
    Transcript IDExonsOther
    ENST00000262160.1111
    ENST00000356825.810
    ENST00000402690.611
    ENST00000586040.59
    ENST00000591214.59
    Isoforms
    Isoforms - General localization
    CytoplasmNucleus
    Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 or with IPO7 . On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 . Localized mainly to the nucleus in the early stages of embryo development with expression becoming evident in the cytoplasm at the blastocyst and epiblast stages (By similarity)TISSUE SPECIFICITY: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta
    BioGRID Interactions
    Human interactions: 425 Non-human interactions: 95
    Human interactions (15 types, 425 partners)
    Affinity Capture-Luminescence — 3 genes
    SMAD3SMAD4SMURF2
    Affinity Capture-MS — 105 genes
    ARID1AARID1BASH2LATAD3BBCL7ABTBD9BUB3C1ORF116CADCCT6ACDC27CGACPSF7CREBBPCSNK1DCTNNB1CUL4ACUL4BDCAF7DDX3YDGKADHX8DNAJA2DOCK9DYRK1AEPB41L5ERBB2IPEZH2FAM83GFLOT1FLOT2FYNGSK3AGTF3C2GTF3C6HCFC1HDAC2HDAC4HINT3HSPA4ITGB4KLF5KMT2CLDLRAD4LEMD3MED15MED16MED17MED19MED20MED22MED25MED31MED4MED9MEN1MTMR4NCOA3OGTOPA1OTUB1PARK2PCBP1PCID2PLEKHA4PSPC1RIN1SGSHSIK3SKISKILSLC25A3SLC25A5SLC25A6SMAD1SMAD3SMAD4SMAD5SMAD9SMARCA4SMARCC1SMARCC2SMARCD2SMPDL3BSMURF2SNW1SNX27SQRDLTAF1TAF2TAF3TAF5TAF6TMED8TMOD1TRIM28TRIM33TRIM67U2AF2WDR82WRNIP1WWP2YAF2YY1ZFYVE9
    Affinity Capture-RNA — 2 genes
    DDX58ELAVL1
    Affinity Capture-Western — 106 genes
    ACVR1BACVR2BAKT1ANAPC10ATF3BRCA2CDC16CDC27CHUKCITED2CREBBPCSNK1DCTNNB1DAB2DOCK9EID2ELAC2EP300ERBB2IPESR1ETV4EZH2FHL1FHL2FHL3FOXH1FOXP1GLI1GTF2IGTF2IRD1HDAC1HGSHYAL2ING2INSRIRF3IRF7ITCHJUNKAT2AKAT2BKDM6BKLF5LEF1MAPTMED15MED24MED6MEF2AMETTL14METTL3MYCNEDD4NEDD4LNEDD9NFYCNOTCH4NUP214OTUB1OVOL2PIAS3PIAS4PIN1PMLPRDM16RBBP5RELBRGCCRNF111RUNX1RUNX2RUNX3S100A4SH2D2ASKISKILSMAD2SMAD3SMAD4SMAD6SMAD7SMARCA4SMURF1SMURF2SOX9SP1SPTBN1STRAPTCF12TGFBR1TGFBR2TGIF1TP53TRIM28TRIM33TSC2UCHL1USP15USP2USP7USP9XWWP1WWP2YAP1ZEB1ZFYVE9
    Biochemical Activity — 9 genes
    ACVR1BCAMK2GCDK2CDK4CDK8CDK9CSNK1DITCHTGFBR1
    Co-crystal Structure — 1 gene
    SMAD4
    Co-fractionation — 26 genes
    AP1M1ARID1BCAV1CREBBPCTNNB1HDAC1HMGA2MTA2NAA15NCOA3PARP1PMLPRKDCRBM14RELASMAD3SMAD4SMARCA4SMARCC1SMARCC2SNF8SUB1TGFBR1TRIM33XRCC6ZFYVE9
    Co-localization — 3 genes
    CAMK2ATGFBR1TP53
    FRET — 4 genes
    BECN1LATS2MYCSMAD1
    Phenotypic Enhancement — 2 genes
    SMAD3SNW1
    Phenotypic Suppression — 2 genes
    SMAD7STRAP
    Positive Genetic — 1 gene
    SPPL3
    Proximity Label-MS — 6 genes
    CCNFEPHA2OPTNRAB7ASNCATGOLN2
    Reconstituted Complex — 55 genes
    ANAPC10ANP32BANP32EATP5IBPTFCREBBPDAB2DVL1ELAC2ERBB2IPESR1FHL1FHL2FHL3FOXH1HDAC2HIPK2HYAL2INSRIRF7JUNKAT2BLCKLEF1MECOMMEF2AMEF2CMYCMYOCDNEDD4LNEFMNFIANUP214OTUB1PARD3PIAS3PIK3CAPIN1PTMSRHOASH2D2ASKISMAD4SMAD7SMURF2SNW1SOD1SP1STUB1SYT1TP53TUBA1BUCHL5YY1ZFYVE9
    Two-hybrid — 100 genes
    ABTB1AKT1ANAPC2ANK3ANTXR2BAZ1ABTBD2C22ORF46C9ORF156CISHCOPS5CORO2ACREBBPCSH1CSH2CUL5CYLC2CYP11A1DCUN1D1DNAJB5DNAJC7DOCK8DYNC1H1DYRK1AEEF1A1EIF3LEP300ETV4FAM161BFBP2FOXH1GATAD2BGFERHSD17B3INSRKHDRBS1KIAA1033KPNB1LAMA5LEMD3MAP2K1MLLT4MYCNAGKNCOA6NEDD4LOS9PAPOLAPAPPAPAXIP1PEX19PIAS4PLIN3POU2AF1PPP2R1APRKAR1APSAPPSG9PSMD11PSMD8RANBP6RANBP9RARBRASA1RNF123RNPC3ROCK1RPS14RPS27ARXRASKISKILSMAD1SMAD2SMAD3SMAD4SMAD9SMURF1SMURF2SNAPINSNIP1SNRNP70SNW1SP1SRIST13ST5TBC1D1TGIF1TGM2TRIM62UBA52UBR5XPAZEB2ZFYVE9ZMYND11ZNF41ZNF510ZNHIT6
    Non-human interactions (9 types, 95 partners)
    Affinity Capture-Luminescence — 27 genes
    ARHGEF1ARHGEF6ARHGEF7ARL4DCDC40FBXO3IRAK2LHX9LMO2MAP2K3NUAK2PPP2R2DRAB34RAB38RASD2RGS3RHEBL1RHOBTB1RHODRHOJRPS27ASMAD2SMAD3SQSTM1TRIM35UHMK1WWP2
    Affinity Capture-MS — 8 genes
    ALDH4A1BACH1E6FANCD2NSP16ABOTUB1PAXIP1RUNX1
    Affinity Capture-Western — 24 genes
    COL1A1COL3A1COL5A1DOK1E6E7GATA4HCVGP1KAP-ALPHA3KLF4LEF1MEDMED15MEF2ARNF111SKISMAD2SMAD4SMOXSNOOUBXVISWWTR1YAP1
    Co-localization — 3 genes
    E7EZH2-AKLF4
    PCA — 2 genes
    E6SMOX
    Phenotypic Enhancement — 4 genes
    BABOINRSMOXYKI
    Phenotypic Suppression — 8 genes
    BABOHPOINRMYOPLUMPTENSCGDELTASMOX
    Reconstituted Complex — 6 genes
    E7LEMD3SMAD2SOX9UBXZFP128
    Two-hybrid — 13 genes
    CG18095DE6EGFOXH1HOXA13HOXD13HR78SMAD2SMOXUBXZEB2ZEN
    SMAD3 • ENSG00000166949.18 • Entrez:4088 • UniProt:P84022
    chr15 67063763–67195173 + • Transcripts: 11 • Median span: null bp • Max span: null bp
    Functions (1)
    Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator
    Diseases (2)
    Colorectal cancer Loeys-Dietz syndrome 3
    Pathways (54)
    SMAD2/3 Phosphorylation Motif Mutants in Cancer Signaling by Interleukins SMAD4 MH2 Domain Mutants in Cancer SARS-CoV-1 targets host intracellular signalling and regulatory pathways Formation of definitive endoderm Cytokine Signaling in Immune system SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Signaling by NOTCH4 Signaling by Activin Downregulation of TGF-beta receptor signaling SMAD2/3 MH2 Domain Mutants in Cancer Viral Infection Pathways Signaling by TGF-beta Receptor Complex in Cancer Signal Transduction Interleukin-1 family signaling NOTCH4 Intracellular Domain Regulates Transcription Gastrulation Signaling by NOTCH SARS-CoV Infections Germ layer formation at gastrulation Metabolism of proteins Deubiquitination Ub-specific processing proteases Post-translational protein modification FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes TGF-beta receptor signaling activates SMADs SARS-CoV-1 Infection Downregulation of SMAD2/3:SMAD4 transcriptional activity Transcriptional regulation by RUNX3 Disease Developmental Biology Signaling by TGF-beta Receptor Complex Signaling by TGFBR3 Signaling by TGFB family members Signaling by NODAL Diseases of signal transduction by growth factor receptors and second messengers Gene expression (Transcription) SARS-CoV-1-host interactions Generic Transcription Pathway Formation of axial mesoderm TGFBR3 expression RNA Polymerase II Transcription RUNX3 regulates CDKN1A transcription Immune System TGFBR1 KD Mutants in Cancer FOXO-mediated transcription of cell cycle genes Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer Loss of Function of TGFBR1 in Cancer FOXO-mediated transcription Interleukin-37 signaling Loss of Function of SMAD4 in Cancer Loss of Function of SMAD2/3 in Cancer Infectious disease RUNX3 regulates BCL2L11 (BIM) transcription
    GO annotations (134)
    C:SMAD protein complex C:chromatin C:ciliary basal body C:cytoplasm C:cytosol C:heteromeric SMAD protein complex C:intracellular membrane-bounded organelle C:nuclear inner membrane C:nucleoplasm C:nucleus C:plasma membrane C:receptor complex C:transcription regulator complex F:DEAD/H-box RNA helicase binding F:DNA binding F:DNA-binding transcription activator activity, RNA polymerase II-specific F:DNA-binding transcription factor activity F:DNA-binding transcription factor activity, RNA polymerase II-specific F:DNA-binding transcription factor binding F:DNA-binding transcription repressor activity F:I-SMAD binding F:R-SMAD binding F:RNA polymerase II cis-regulatory region sequence-specific DNA binding F:RNA polymerase II-specific DNA-binding transcription factor binding F:bHLH transcription factor binding F:beta-catenin binding F:chromatin DNA binding F:cis-regulatory region sequence-specific DNA binding F:co-SMAD binding F:collagen binding F:identical protein binding F:nuclear glucocorticoid receptor binding F:nuclear mineralocorticoid receptor binding F:nuclear receptor binding F:phosphatase binding F:promoter-specific chromatin binding F:protein homodimerization activity F:protein kinase binding F:sequence-specific DNA binding F:sterol response element binding F:transcription cis-regulatory region binding F:transcription coactivator binding F:transcription corepressor binding F:transforming growth factor beta receptor binding F:ubiquitin binding F:ubiquitin protein ligase binding F:zinc ion binding P:JNK cascade P:SMAD protein signal transduction P:T cell activation P:activin receptor signaling pathway P:adrenal gland development P:anatomical structure morphogenesis P:apoptotic signaling pathway P:cell differentiation P:cell population proliferation P:cell-cell junction organization P:cellular response to glucose stimulus P:cellular response to transforming growth factor beta stimulus P:cellular response to virus P:developmental growth P:embryonic cranial skeleton morphogenesis P:embryonic foregut morphogenesis P:embryonic pattern specification P:endoderm development P:extrinsic apoptotic signaling pathway P:heart looping P:immune response P:immune system development P:in utero embryonic development P:lens fiber cell differentiation P:liver development P:mesoderm formation P:negative regulation of apoptotic process P:negative regulation of cardiac muscle hypertrophy in response to stress P:negative regulation of cell differentiation P:negative regulation of cell growth P:negative regulation of cell population proliferation P:negative regulation of cytosolic calcium ion concentration P:negative regulation of fat cell differentiation P:negative regulation of gene expression P:negative regulation of inflammatory response P:negative regulation of lung blood pressure P:negative regulation of miRNA transcription P:negative regulation of ossification P:negative regulation of osteoblast differentiation P:negative regulation of osteoblast proliferation P:negative regulation of protein catabolic process P:negative regulation of transcription by RNA polymerase II P:negative regulation of wound healing P:nodal signaling pathway P:osteoblast development P:paraxial mesoderm morphogenesis P:pericardium development P:positive regulation of DNA-templated transcription P:positive regulation of SMAD protein signal transduction P:positive regulation of bone mineralization P:positive regulation of canonical Wnt signaling pathway P:positive regulation of cell migration P:positive regulation of chondrocyte differentiation P:positive regulation of epithelial to mesenchymal transition P:positive regulation of extracellular matrix assembly P:positive regulation of focal adhesion assembly P:positive regulation of gene expression P:positive regulation of interleukin-1 beta production P:positive regulation of miRNA transcription P:positive regulation of nitric oxide biosynthetic process P:positive regulation of positive chemotaxis P:positive regulation of protein import into nucleus P:positive regulation of stress fiber assembly P:positive regulation of transcription by RNA polymerase II P:positive regulation of transforming growth factor beta3 production P:primary miRNA processing P:protein stabilization P:regulation of DNA-templated transcription P:regulation of epithelial cell proliferation P:regulation of immune response P:regulation of miRNA transcription P:regulation of mitochondrial membrane potential P:regulation of striated muscle tissue development P:regulation of transcription by RNA polymerase II P:regulation of transforming growth factor beta receptor signaling pathway P:regulation of transforming growth factor beta2 production P:release of cytochrome c from mitochondria P:response to angiotensin P:response to hypoxia P:signal transduction involved in regulation of gene expression P:somitogenesis P:thyroid gland development P:transdifferentiation P:transforming growth factor beta receptor signaling pathway P:trophoblast cell migration P:ureteric bud development P:wound healing
    MSigDB
    MSigDB H — Hallmark gene sets (broad biological states/processes) (4)
    HALLMARK_TGF_BETA_SIGNALING, HALLMARK_G2M_CHECKPOINT, HALLMARK_TNFA_SIGNALING_VIA_NFKB, HALLMARK_UV_RESPONSE_DN
    MSigDB C1 — Positional gene sets (cytogenetic bands) (1)
    chr15q22
    MSigDB C2 — Curated gene sets (pathways/literature) (184)
    KEGG_MEDICUS_REFERENCE_ACTIVIN_SIGNALING_PATHWAY, REACTOME_RUNX3_REGULATES_CDKN1A_TRANSCRIPTION, WP_SARSCOV2_INNATE_IMMUNITY_EVASION_AND_CELLSPECIFIC_IMMUNE_RESPONSE, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, PEREZ_TP53_TARGETS, MARTINEZ_RESPONSE_TO_TRABECTEDIN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, DANG_BOUND_BY_MYC, PHONG_TNF_RESPONSE_VIA_P38_PARTIAL, BIOCARTA_G1_PATHWAY, PULVER_FOREY_CELLCYCLE_ENRICHED_TFS_G2, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLACK_DN, PHONG_TNF_RESPONSE_NOT_VIA_P38, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_UP, BHAT_ESR1_TARGETS_NOT_VIA_AKT1_DN, WP_AGERAGE_PATHWAY, WP_INTEGRATED_CANCER_PATHWAY, WP_HIPPO_SIGNALING_REGULATION, BIOCARTA_TOB1_PATHWAY, WP_HEPATITIS_C_AND_HEPATOCELLULAR_CARCINOMA, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, DOANE_RESPONSE_TO_ANDROGEN_DN, TURJANSKI_MAPK1_AND_MAPK2_TARGETS, REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY, SHEPARD_CRASH_AND_BURN_MUTANT_DN, BROWNE_HCMV_INFECTION_4HR_DN, BENPORATH_NANOG_TARGETS, KEGG_TGF_BETA_SIGNALING_PATHWAY, REACTOME_NOTCH4_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION, REACTOME_RUNX3_REGULATES_BCL2L11_BIM_TRANSCRIPTION, PID_SMAD2_3NUCLEAR_PATHWAY, REN_ALVEOLAR_RHABDOMYOSARCOMA_DN, SERVITJA_ISLET_HNF1A_TARGETS_UP, WP_HYPOTHESIZED_PATHWAYS_IN_PATHOGENESIS_OF_CARDIOVASCULAR_DISEASE, BENPORATH_SOX2_TARGETS, REACTOME_VIRAL_INFECTION_PATHWAYS, MARTENS_BOUND_BY_PML_RARA_FUSION, REACTOME_TGF_BETA_RECEPTOR_SIGNALING_ACTIVATES_SMADS, JINESH_BLEBBISHIELD_TO_IMMUNE_CELL_FUSION_PBSHMS_UP, REACTOME_FOXO_MEDIATED_TRANSCRIPTION_OF_CELL_CYCLE_GENES, KEGG_ADHERENS_JUNCTION, WP_ENDODERM_DIFFERENTIATION, REACTOME_FORMATION_OF_DEFINITIVE_ENDODERM, ZHENG_BOUND_BY_FOXP3, KEGG_COLORECTAL_CANCER, FIGUEROA_AML_METHYLATION_CLUSTER_3_UP, KEGG_MEDICUS_REFERENCE_NODAL_SIGNALING_PATHWAY, REACTOME_TGFBR3_EXPRESSION, REACTOME_FORMATION_OF_AXIAL_MESODERM, WP_1P36_COPY_NUMBER_VARIATION_SYNDROME, KEGG_PANCREATIC_CANCER, FISCHER_DIRECT_P53_TARGETS_META_ANALYSIS, REACTOME_SIGNALING_BY_NOTCH4, FRASOR_RESPONSE_TO_ESTRADIOL_DN, WP_ANDROGEN_RECEPTOR_NETWORK_IN_PROSTATE_CANCER, REACTOME_INTERLEUKIN_37_SIGNALING, MITSIADES_RESPONSE_TO_APLIDIN_UP, WP_BURN_WOUND_HEALING, REACTOME_SIGNALING_BY_INTERLEUKINS, YEMELYANOV_GR_TARGETS_DN, BENPORATH_MYC_MAX_TARGETS, WP_ADIPOGENESIS, WP_NEUROINFLAMMATION_AND_GLUTAMATERGIC_SIGNALING, REACTOME_SARS_COV_1_INFECTION, WP_VITAMIN_D_IN_INFLAMMATORY_DISEASES, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_DN, WP_ANGIOTENSIN_II_RECEPTOR_TYPE_1_PATHWAY, WP_UROTENSINIIMEDIATED_SIGNALING, NAKAMURA_ADIPOGENESIS_LATE_DN, WP_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_IN_COLORECTAL_CANCER, WP_PROGERIAASSOCIATED_LIPODYSTROPHY, LAMB_CCND1_TARGETS, BROWNE_HCMV_INFECTION_8HR_DN, TSAI_RESPONSE_TO_RADIATION_THERAPY, REACTOME_SIGNALING_BY_ACTIVIN, KIM_WT1_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, WP_TGFB_SMAD_SIGNALING, WP_CELL_CYCLE, WP_ANDROGEN_RECEPTOR_SIGNALING, REACTOME_DISEASES_OF_SIGNAL_TRANSDUCTION_BY_GROWTH_FACTOR_RECEPTORS_AND_SECOND_MESSENGERS, GENTILE_UV_HIGH_DOSE_DN, LEE_METASTASIS_AND_ALTERNATIVE_SPLICING_UP, KEGG_CHRONIC_MYELOID_LEUKEMIA, BIOCARTA_NTHI_PATHWAY, PULVER_FOREY_CELLCYCLE_ENRICHED_TFS_S2, FLORIO_NEOCORTEX_BASAL_RADIAL_GLIA_UP, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, PID_SMAD2_3PATHWAY, OKUMURA_INFLAMMATORY_RESPONSE_LPS, PID_MYC_ACTIV_PATHWAY, WP_DNA_DAMAGE_RESPONSE_ONLY_ATM_DEPENDENT, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, BROWNE_HCMV_INFECTION_14HR_DN, DAZARD_RESPONSE_TO_UV_NHEK_DN, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, REACTOME_FOXO_MEDIATED_TRANSCRIPTION, WP_SENESCENCE_AND_AUTOPHAGY_IN_CANCER, DAZARD_UV_RESPONSE_CLUSTER_G6, PUJANA_BREAST_CANCER_LIT_INT_NETWORK, WP_TGFBETA_SIGNALING_IN_THYROID_CELLS_FOR_EPITHELIALMESENCHYMAL_TRANSITION, WP_EXTRACELLULAR_VESICLEMEDIATED_SIGNALING_IN_RECIPIENT_CELLS, WP_AFFECTED_PATHWAYS_IN_DUCHENNE_MUSCULAR_DYSTROPHY, ZIRN_TRETINOIN_RESPONSE_WT1_UP, REACTOME_SARS_COV_1_TARGETS_HOST_INTRACELLULAR_SIGNALLING_AND_REGULATORY_PATHWAYS, REACTOME_SIGNALING_BY_TGFBR3, WP_FIBROTIC_RESPONSE_OF_HUMAN_TRABECULAR_MESHWORK_CELLS_TO_TRANSFORMING_GROWTH_FACTORBETA_3_TGFB3_AND_AUTOTAXIN_ENPP2_OR_ATX_IN_AQUEOUS_HUMOR, RIZ_ERYTHROID_DIFFERENTIATION_6HR, REACTOME_GASTRULATION, WP_PANCREATIC_ADENOCARCINOMA_PATHWAY, SANA_TNF_SIGNALING_UP, CHANDRAN_METASTASIS_DN, ZHANG_RESPONSE_TO_IKK_INHIBITOR_AND_TNF_UP, WP_TGFBETA_RECEPTOR_SIGNALING_IN_SKELETAL_DYSPLASIAS, DACOSTA_UV_RESPONSE_VIA_ERCC3_DN, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, REACTOME_SARS_COV_INFECTIONS, JOHNSTONE_PARVB_TARGETS_2_UP, KEGG_MEDICUS_REFERENCE_TGF_BETA_SIGNALING_PATHWAY, RUTELLA_RESPONSE_TO_HGF_DN, PID_TGFBR_PATHWAY, CHICAS_RB1_TARGETS_CONFLUENT, WP_MESODERMAL_COMMITMENT_PATHWAY, PID_HIF1_TFPATHWAY, REACTOME_DOWNREGULATION_OF_TGF_BETA_RECEPTOR_SIGNALING, GU_PDEF_TARGETS_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, WP_HEPATITIS_B_INFECTION, WP_MACROPHAGESTIMULATING_PROTEIN_MSP_SIGNALING, REACTOME_RNA_POLYMERASE_II_TRANSCRIPTION, REACTOME_TRANSCRIPTIONAL_REGULATION_BY_RUNX3, WP_CHROMOSOMAL_AND_MICROSATELLITE_INSTABILITY_IN_COLORECTAL_CANCER, PID_MYC_REPRESS_PATHWAY, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION, WP_NRP1TRIGGERED_SIGNALING_IN_PANCREATIC_CANCER, REACTOME_SARS_COV_1_HOST_INTERACTIONS, WP_ENVELOPE_PROTEINS_AND_THEIR_POTENTIAL_ROLES_IN_EDMD_PHYSIOPATHOLOGY, WP_CATABOLISM_OF_SKELETAL_MUSCLE_IN_CACHEXIA, FARMER_BREAST_CANCER_APOCRINE_VS_LUMINAL, PULVER_FOREY_CELLCYCLE_PEAKING_M, WP_CANONICAL_AND_NONCANONICAL_TGFB_SIGNALING, REACTOME_GERM_LAYER_FORMATION_AT_GASTRULATION, WP_OVERLAP_BETWEEN_SIGNAL_TRANSDUCTION_PATHWAYS_CONTRIBUTING_TO_LMNA_LAMINOPATHIES, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, WP_OVARIAN_INFERTILITY, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, KIM_WT1_TARGETS_12HR_UP, GENTILE_UV_RESPONSE_CLUSTER_D6, REACTOME_SIGNALING_BY_NOTCH, KEGG_CELL_CYCLE, WP_NEOVASCULARIZATION_PROCESSES, WP_TGFBETA_RECEPTOR_SIGNALING, SATO_SILENCED_BY_METHYLATION_IN_PANCREATIC_CANCER_1, BIOCARTA_TGFB_PATHWAY, REACTOME_INFECTIOUS_DISEASE, KEGG_PATHWAYS_IN_CANCER, LEI_MYB_TARGETS, JINESH_BLEBBISHIELD_TRANSFORMED_STEM_CELL_SPHERES_UP, JOHNSTONE_PARVB_TARGETS_3_UP, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX_IN_CANCER, REACTOME_SIGNALING_BY_TGFB_FAMILY_MEMBERS, GRUETZMANN_PANCREATIC_CANCER_UP, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, DESERT_PERIVENOUS_HEPATOCELLULAR_CARCINOMA_SUBCLASS_UP, REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER, WP_FACTORS_AND_PATHWAYS_AFFECTING_INSULINLIKE_GROWTH_FACTOR_IGF1AKT_SIGNALING, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_DN, BROWNE_HCMV_INFECTION_6HR_DN, REACTOME_SIGNALING_BY_NODAL, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, REACTOME_DEUBIQUITINATION, KEGG_WNT_SIGNALING_PATHWAY, REACTOME_INTERLEUKIN_1_FAMILY_SIGNALING, RYAN_MANTLE_CELL_LYMPHOMA_NOTCH_DIRECT_UP, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, REACTOME_FOXO_MEDIATED_TRANSCRIPTION_OF_OXIDATIVE_STRESS_METABOLIC_AND_NEURONAL_GENES, TSAI_RESPONSE_TO_IONIZING_RADIATION, WP_CANCER_PATHWAYS, REACTOME_UB_SPECIFIC_PROCESSING_PROTEASES, PID_TELOMERASE_PATHWAY, REACTOME_LOSS_OF_FUNCTION_OF_SMAD2_3_IN_CANCER
    MSigDB C3 — Regulatory target sets (TF & miRNA targets) (86)
    SFMBT1_TARGET_GENES, KMT2D_TARGET_GENES, TAL1BETAITF2_01, MIR6845_5P, AACTGGA_MIR145, ZNF92_TARGET_GENES, MIR4778_3P, ADNP_TARGET_GENES, MIR6127, RYTTCCTG_ETS2_B, AATGTGA_MIR23A_MIR23B, LFA1_Q6, ZSCAN2_TARGET_GENES, ATGTCAC_MIR489, ARID5B_TARGET_GENES, ZFP3_TARGET_GENES, NR0B1_TARGET_GENES, PBXIP1_TARGET_GENES, HDAC4_TARGET_GENES, SRY_02, AGCTCCT_MIR28, GGCAGAC_MIR346, ZNF563_TARGET_GENES, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, SALL4_TARGET_GENES, GATA1_05, ZNF282_TARGET_GENES, ZSCAN30_TARGET_GENES, GTTAAAG_MIR302B, ZNF512B_TARGET_GENES, MIR5787, MIR520D_5P, MIR3658, MIR5195_3P, SNAI1_TARGET_GENES, ZNF436_TARGET_GENES, MIR20A_3P, MIR520G_3P_MIR520H, PXR_Q2, MIR3120_5P, CTTTGTA_MIR524, MIR561_3P, MIR617, WGGAATGY_TEF1_Q6, NAB2_TARGET_GENES, EWSR1_TARGET_GENES, DLX2_TARGET_GENES, ZFHX3_TARGET_GENES, MIR4505, GREB1_TARGET_GENES, MIR6133, ZNF746_TARGET_GENES, SKIL_TARGET_GENES, MIR6129, TAL1BETAE47_01, MIR302D_5P, TBX1_TARGET_GENES, COUP_DR1_Q6, MEF2C_TARGET_GENES, GCTNWTTGK_UNKNOWN, HMX1_01, MIR524_5P, TFEB_TARGET_GENES, NGFIC_01, MYOD_Q6_01, E12_Q6, MIR3194_3P, FXR_IR1_Q6, SUPT16H_TARGET_GENES, ZSCAN5DP_TARGET_GENES, MIR6886_3P, CTAWWWATA_RSRFC4_Q2, ZNF596_TARGET_GENES, MIR668_3P, MED25_TARGET_GENES, MIR6765_3P, MIR3154, TAL1ALPHAE47_01, MIR4510, MIR8080, MIR6762_5P, MIR302B_5P, ZNF766_TARGET_GENES, MIR145_5P, ZNF740_TARGET_GENES, MIR6130
    MSigDB C4 — Computational gene sets (co-expression/other) (17)
    MODULE_317, MODULE_532, MODULE_255, MODULE_129, MODULE_459, MODULE_37, MODULE_3, MODULE_117, MODULE_69, MODULE_57, MODULE_70, MODULE_136, MODULE_378, MODULE_179, MODULE_18, MODULE_138, MODULE_33
    MSigDB C6 — Oncogenic signatures (1)
    RPS14_DN.V1_UP
    MSigDB C7 — Immunologic signatures (126)
    GSE39820_TGFBETA3_IL6_VS_TGFBETA3_IL6_IL23A_TREATED_CD4_TCELL_UP, GSE3039_CD4_TCELL_VS_ALPHABETA_CD8_TCELL_UP, NAKAYA_MYELOID_DENDRITIC_CELL_FLUARIX_FLUVIRIN_AGE_18_50YO_7DY_DN, GSE41867_NAIVE_VS_DAY6_LCMV_ARMSTRONG_EFFECTOR_CD8_TCELL_DN, GSE40273_EOS_KO_VS_WT_TREG_UP, GSE12963_UNINF_VS_ENV_AND_NEF_DEFICIENT_HIV1_INF_CD4_TCELL_UP, GSE2585_AIRE_KO_VS_WT_CD80_LOW_MTEC_DN, GSE43955_TH0_VS_TGFB_IL6_TH17_ACT_CD4_TCELL_4H_DN, GSE17580_UNINFECTED_VS_S_MANSONI_INF_TREG_UP, GSE7768_OVA_ALONE_VS_OVA_WITH_MPL_IMMUNIZED_MOUSE_WHOLE_SPLEEN_6H_UP, GSE27291_0H_VS_7D_STIM_GAMMADELTA_TCELL_DN, GSE22886_NAIVE_BCELL_VS_NEUTROPHIL_UP, GSE7460_CTRL_VS_TGFB_TREATED_ACT_FOXP3_MUT_TCONV_UP, GSE12003_4D_VS_8D_CULTURE_MIR223_KO_BM_PROGENITOR_DN, GSE27786_CD4_TCELL_VS_NKTCELL_DN, GSE1925_CTRL_VS_IFNG_PRIMED_MACROPHAGE_UP, GSE1460_DP_VS_CD4_THYMOCYTE_DN, GSE17301_IFNA2_VS_IFNA2_AND_ACD3_ACD28_STIM_CD8_TCELL_DN, GSE2585_CTEC_VS_MTEC_THYMUS_UP, GSE15930_STIM_VS_STIM_AND_TRICHOSTATINA_48H_CD8_T_CELL_DN, GSE39820_CTRL_VS_IL1B_IL6_CD4_TCELL_DN, GSE29949_MICROGLIA_BRAIN_VS_MONOCYTE_BONE_MARROW_DN, GSE7219_UNSTIM_VS_LPS_AND_ANTI_CD40_STIM_DC_UP, GSE7219_WT_VS_NIK_NFKB2_KO_DC_DN, GSE17721_PAM3CSK4_VS_GADIQUIMOD_4H_BMDC_DN, GSE43955_1H_VS_20H_ACT_CD4_TCELL_WITH_TGFB_IL6_UP, GSE29949_MICROGLIA_VS_DC_BRAIN_DN, GSE360_CTRL_VS_L_MAJOR_MAC_UP, SCHERER_PBMC_APSV_WETVAX_AGE_18_32YO_50_TO_60DY_UP, GSE23114_WT_VS_SLE2C1_MOUSE_PERITONEAL_CAVITY_B1A_BCELL_UP, GSE17186_MEMORY_VS_NAIVE_BCELL_UP, GSE21063_3H_VS_16H_ANTI_IGM_STIM_BCELL_UP, GSE41087_WT_VS_FOXP3_MUT_ANTI_CD3_CD28_STIM_CD4_TCELL_UP, GSE12845_PRE_GC_VS_DARKZONE_GC_TONSIL_BCELL_UP, GSE17186_NAIVE_VS_CD21HIGH_TRANSITIONAL_BCELL_CORD_BLOOD_DN, GSE2770_IL12_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_48H_UP, GSE40068_CXCR5NEG_BCL6NEG_CD4_TCELL_VS_CXCR5POS_BCL6NEG_TFH_DN, GSE7348_LPS_VS_TOLERIZED_AND_LPS_STIM_MACROPHAGE_UP, GSE36826_NORMAL_VS_STAPH_AUREUS_INF_SKIN_UP, FOURATI_BLOOD_TWINRIX_AGE_25_83YO_RESPONDERS_VS_POOR_RESPONDERS_0DY_UP, GSE7852_THYMUS_VS_FAT_TREG_DN, GSE13306_RA_VS_UNTREATED_MEM_CD4_TCELL_UP, NAKAYA_B_CELL_FLUMIST_AGE_18_50YO_7DY_UP, GSE22886_NAIVE_BCELL_VS_BLOOD_PLASMA_CELL_UP, GSE3982_EFF_MEMORY_CD4_TCELL_VS_NKCELL_UP, GSE4535_BM_DERIVED_DC_VS_FOLLICULAR_DC_UP, GSE11057_NAIVE_VS_MEMORY_CD4_TCELL_DN, GSE26495_NAIVE_VS_PD1LOW_CD8_TCELL_DN, GSE14415_INDUCED_TREG_VS_FOXP3_KO_INDUCED_TREG_IL2_CULTURE_DN, GSE22229_RENAL_TRANSPLANT_VS_HEALTHY_PBMC_DN, GSE25123_CTRL_VS_IL4_AND_ROSIGLITAZONE_STIM_MACROPHAGE_UP, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_6H_DN, GSE40443_INDUCED_VS_TOTAL_TREG_UP, GSE4590_LARGE_PRE_BCELL_VS_VPREB_POS_LARGE_PRE_BCELL_DN, GSE9946_MATURE_STIMULATORY_VS_LISTERIA_INF_MATURE_DC_UP, GSE22886_NAIVE_VS_IGM_MEMORY_BCELL_UP, GSE43955_1H_VS_60H_ACT_CD4_TCELL_UP, GSE24634_TREG_VS_TCONV_POST_DAY10_IL4_CONVERSION_UP, GSE3565_CTRL_VS_LPS_INJECTED_SPLENOCYTES_UP, GSE43863_TH1_VS_TFH_MEMORY_CD4_TCELL_UP, GSE36078_WT_VS_IL1R_KO_LUNG_DC_AFTER_AD5_INF_UP, GSE16385_MONOCYTE_VS_12H_ROSIGLITAZONE_IFNG_TNF_TREATED_MACROPHAGE_DN, GSE3982_MAC_VS_TH1_DN, GSE9946_LISTERIA_INF_MATURE_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_UP, GSE20727_CTRL_VS_H2O2_TREATED_DC_DN, GSE7460_FOXP3_MUT_VS_WT_ACT_WITH_TGFB_TCONV_DN, GSE36392_TYPE_2_MYELOID_VS_NEUTROPHIL_IL25_TREATED_LUNG_UP, GSE15324_NAIVE_VS_ACTIVATED_ELF4_KO_CD8_TCELL_UP, GSE3920_IFNA_VS_IFNG_TREATED_FIBROBLAST_UP, NAKAYA_PLASMACYTOID_DENDRITIC_CELL_FLUMIST_AGE_18_50YO_7DY_UP, GSE19941_UNSTIM_VS_LPS_STIM_IL10_KO_MACROPHAGE_UP, GSE43863_DAY6_EFF_VS_DAY150_MEM_LY6C_INT_CXCR5POS_CD4_TCELL_UP, GSE21360_SECONDARY_VS_QUATERNARY_MEMORY_CD8_TCELL_DN, GSE43955_TH0_VS_TGFB_IL6_TH17_ACT_CD4_TCELL_1H_UP, GSE17721_LPS_VS_PAM3CSK4_4H_BMDC_UP, GSE22935_WT_VS_MYD88_KO_MACROPHAGE_DN, GSE26495_NAIVE_VS_PD1HIGH_CD8_TCELL_DN, GSE22886_NAIVE_BCELL_VS_DC_UP, GSE30962_ACUTE_VS_CHRONIC_LCMV_PRIMARY_INF_CD8_TCELL_UP, GSE3039_ALPHAALPHA_CD8_TCELL_VS_B1_BCELL_DN, GSE7460_CTRL_VS_TGFB_TREATED_ACT_CD8_TCELL_UP, GSE20151_CTRL_VS_FUSOBACT_NUCLEATUM_NEUTROPHIL_UP, GSE8921_UNSTIM_VS_TLR1_2_STIM_MONOCYTE_6H_DN, GSE9988_ANTI_TREM1_VS_CTRL_TREATED_MONOCYTES_DN, GSE26030_UNSTIM_VS_RESTIM_TH1_DAY15_POST_POLARIZATION_UP, GSE7768_OVA_WITH_LPS_VS_OVA_WITH_MPL_IMMUNIZED_MOUSE_WHOLE_SPLEEN_6H_UP, GSE7460_CTRL_VS_TGFB_TREATED_ACT_TCONV_UP, GSE39820_CTRL_VS_TGFBETA3_IL6_CD4_TCELL_DN, NAKAYA_MONOCYTE_FLUMIST_AGE_18_50YO_7DY_DN, GSE19941_UNSTIM_VS_LPS_AND_IL10_STIM_IL10_KO_MACROPHAGE_UP, GSE7509_DC_VS_MONOCYTE_WITH_FCGRIIB_STIM_DN, GSE22886_NAIVE_VS_IGG_IGA_MEMORY_BCELL_UP, GSE17721_CPG_VS_GARDIQUIMOD_24H_BMDC_DN, GSE1460_DP_THYMOCYTE_VS_THYMIC_STROMAL_CELL_DN, GSE2585_CTEC_VS_THYMIC_DC_DN, GSE8685_IL2_ACT_IL2_STARVED_VS_IL21_ACT_IL2_STARVED_CD4_TCELL_UP, GSE21360_NAIVE_VS_PRIMARY_MEMORY_CD8_TCELL_UP, GSE40274_FOXP3_VS_FOXP3_AND_IRF4_TRANSDUCED_ACTIVATED_CD4_TCELL_DN, GSE43863_DAY6_EFF_VS_DAY150_MEM_TFH_CD4_TCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE14415_INDUCED_TREG_VS_TCONV_DN, GSE19401_PAM2CSK4_VS_RETINOIC_ACID_STIM_FOLLICULAR_DC_DN, GSE11864_UNTREATED_VS_CSF1_IN_MAC_UP, GSE369_IFNG_KO_VS_WT_LIVER_UP, GSE14350_TREG_VS_TEFF_UP, GSE7852_LN_VS_FAT_TREG_DN, GSE43863_DAY6_EFF_VS_DAY150_MEM_TH1_CD4_TCELL_UP, NAKAYA_B_CELL_FLUARIX_FLUVIRIN_AGE_18_50YO_7DY_DN, GSE16385_MONOCYTE_VS_12H_ROSIGLITAZONE_IL4_TREATED_MACROPHAGE_DN, GSE7548_NAIVE_VS_DAY7_PCC_IMMUNIZATION_CD4_TCELL_DN, GSE43863_TFH_VS_LY6C_LOW_CXCR5NEG_EFFECTOR_CD4_TCELL_DN, GSE26030_TH1_VS_TH17_DAY5_POST_POLARIZATION_DN, GSE17186_NAIVE_VS_CD21LOW_TRANSITIONAL_BCELL_UP, GSE20500_RETINOIC_ACID_VS_RARA_ANTAGONIST_TREATED_CD4_TCELL_DN, GSE3982_MAC_VS_CENT_MEMORY_CD4_TCELL_DN, GSE9988_ANTI_TREM1_VS_VEHICLE_TREATED_MONOCYTES_DN, GSE43955_10H_VS_30H_ACT_CD4_TCELL_WITH_TGFB_IL6_UP, GSE39820_TGFBETA1_VS_TGFBETA3_IN_IL6_TREATED_CD4_TCELL_UP, GSE12505_WT_VS_E2_2_HET_PDC_UP, GSE7764_NKCELL_VS_SPLENOCYTE_UP, GSE9988_ANTI_TREM1_AND_LPS_VS_CTRL_TREATED_MONOCYTES_DN, GSE6259_FLT3L_INDUCED_VS_WT_SPLENIC_DC_33D1_POS_UP, GSE22886_NAIVE_BCELL_VS_BM_PLASMA_CELL_UP, GSE25123_WT_VS_PPARG_KO_MACROPHAGE_UP, GSE20366_TREG_VS_TCONV_UP, GSE41978_WT_VS_ID2_KO_KLRG1_LOW_EFFECTOR_CD8_TCELL_DN
    MSigDB C8 — Cell type signatures (single-cell) (10)
    HE_LIM_SUN_FETAL_LUNG_C0_MID_MESOTHELIAL_CELL, HU_FETAL_RETINA_FIBROBLAST, MURARO_PANCREAS_DUCTAL_CELL, FAN_OVARY_CL11_MURAL_GRANULOSA_CELL, MURARO_PANCREAS_ACINAR_CELL, HU_FETAL_RETINA_RPE, HE_LIM_SUN_FETAL_LUNG_C6_MUC16_POS_CILIATED_CELL, HE_LIM_SUN_FETAL_LUNG_C7_PROLIFERATING_SCHWANN_CELL, GAUTAM_EYE_CORNEA_ELF3_HIGH_EPITHELIAL_CELLS, FAN_OVARY_CL8_MATURE_CUMULUS_GRANULOSA_CELL_2
    Open Targets
    is_essential: false
    Disease annotations (1218)
    Large for gestational age, Alopecia, Abnormality of the cardiovascular system, Mitral valve prolapse, Congestive heart failure, Patent ductus arteriosus, Dilated cardiomyopathy, Bicuspid aortic valve, Right ventricular hypertrophy, Myocardial fibrosis, Hallux valgus, Increased total eosinophil count, Acute kidney injury, Renal artery stenosis, Hypoglycemia, Glucose intolerance, Abnormal thrombosis, Rectal prolapse, Esophageal stricture, Pulmonary hypoplasia, Asthma, Cerebral cortical atrophy, Ischemic stroke, Aortic root aneurysm, Aortic dissection, Spontaneous pneumothorax, Vascular dilatation, Cerebral ischemia, Immunodeficiency, Systemic lupus erythematosus, Oral leukoplakia, Autoimmunity, Hyperglycemia, Hyperlipidemia, Hypercholesterolemia, Back pain, Muscular dystrophy, Hernia of the abdominal wall, Cachexia, Ascending aortic dissection, Venous thrombosis, Ascending tubular aorta aneurysm, Ureteral obstruction, Airway obstruction, Pituitary prolactin cell adenoma, Premature ovarian insufficiency, Intervertebral disk degeneration, Lipodystrophy, Hamartoma, Chordoma, Stress urinary incontinence, Inflammatory abnormality of the skin, Arrhythmia, Myelofibrosis, Hepatitis, Urethral stricture, Allergy, Renal atrophy, Pulmonary bulla, Chronic colitis, Neoplasm of the lung, Cognitive impairment, Hernia, Sepsis, Skin ulcer, Left ventricular dilatation, colorectal adenoma, airway hyperresponsiveness, skin aging, adolescent idiopathic scoliosis, triple-negative breast cancer, bile duct carcinoma, glioma, gamma chain deficiency, seborrheic keratosis, rectal adenocarcinoma, intracerebral hemorrhage, smoking initiation, Staphylococcus aureus infection, rheumatic disease, lupus nephritis, pulse pressure measurement, neurodegenerative disease, retinal detachment, Autoimmune Hepatitis, non-high density lipoprotein cholesterol measurement, brain disease, aortic disease, neonatal abstinence syndrome, allergic rhinitis, esophageal squamous cell carcinoma, non-Hodgkins lymphoma, breast ductal adenocarcinoma, systolic blood pressure, diastolic blood pressure, pulmonary artery enlargement, laryngeal squamous cell carcinoma, cystadenocarcinoma, ovarian mucinous adenocarcinoma, smoking status measurement, bladder transitional cell carcinoma, brain glioblastoma, cerebral amyloid angiopathy, autoimmune thyroid disease, stricture, head and neck malignant neoplasia, urgency urinary incontinence, fibrosis, diastolic blood pressure change measurement, drug use measurement, allergic conjunctivitis, aortic valve insufficiency, Balkan nephropathy, bronchiolitis obliterans, congenital rubella, coronavirus infectious disease, echinococcosis, endodermal sinus tumor, Gerstmann syndrome, Guillain-Barre syndrome, influenza, intestinal cancer, legionellosis, lymphatic system disease, male reproductive organ cancer, aneurysm-osteoarthritis syndrome, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, hyperuricemic nephropathy, familial juvenile type 3, graft versus host disease, autoimmune lymphoproliferative syndrome type 4, combined immunodeficiency due to LRBA deficiency, adenine phosphoribosyltransferase deficiency, karyomegalic interstitial nephritis, dyskeratosis congenita, autosomal recessive 5, TCR-alpha-beta-positive T-cell deficiency, severe combined immunodeficiency due to IKK2 deficiency, immunodeficiency 18, immunodeficiency 23, severe combined immunodeficiency due to CTPS1 deficiency, severe neurodegenerative syndrome with lipodystrophy, periodic fever-infantile enterocolitis-autoinflammatory syndrome, immunodeficiency 37, chronic atrial and intestinal dysrhythmia, DOCK2 deficiency, DDX41-related hematologic malignancy predisposition syndrome, fibrochondrogenesis 2, C3 glomerulonephritis, agammaglobulinemia 7, autosomal recessive, autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, infantile-onset periodic fever-panniculitis-dermatosis syndrome, lung disease, immunodeficiency, and chromosome breakage syndrome;, neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade, chronic diarrhea due to glucoamylase deficiency, Bardet-Biedl syndrome, familial pancreatic carcinoma, nasopharyngeal carcinoma, craniosynostosis, keratoconus, common variable immunodeficiency, hyperplastic polyposis syndrome, dentin dysplasia, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency, early myoclonic encephalopathy, laryngotracheoesophageal cleft, cleft palate, qualitative or quantitative defects of dysferlin, holoprosencephaly, attenuated familial adenomatous polyposis, isolated agammaglobulinemia, pachyonychia congenita, familial hyperaldosteronism, hypohidrotic ectodermal dysplasia, primary ciliary dyskinesia, APC-related attenuated familial adenomatous polyposis, meningioma, multiple epiphyseal dysplasia, hemangioblastoma, Moyamoya disease, thanatophoric dysplasia, idiopathic pulmonary arterial hypertension, IgG4-related disease, juvenile polyposis syndrome, pituitary tumor, ameloblastoma, exstrophy-epispadias complex, autoimmune lymphoproliferative syndrome, syringomyelia, selective IgM deficiency, persistent truncus arteriosus, colorectal adenocarcinoma, congestive heart failure, Crohn's disease, cutaneous melanoma, diabetes mellitus, diabetic nephropathy, diffuse gastric adenocarcinoma, diffuse large B-cell lymphoma, breast ductal carcinoma in situ, embryonal rhabdomyosarcoma, emphysema, epilepsy, fetal growth restriction, ganglioneuroma, gastric adenocarcinoma, esophageal adenocarcinoma, gastric intestinal type adenocarcinoma, glioblastoma multiforme, hypertension, hypertrophic cardiomyopathy, immune system disease, infection, infertility, injury, insulinoma, intracranial hemorrhage, ischemia, leukemia, lung adenocarcinoma, lymphoma, mesothelioma, metabolic disease, myocardial infarction, neoplasm, nervous system disease, neuroblastoma, oligodendroglioma, osteosarcoma, tuberculosis, glioblastoma, chronic granulomatous disease, liver mesenchymal hamartoma, activated PI3K-delta syndrome, carcinoma of liver and intrahepatic biliary tract, cutaneous polyarteritis nodosa, hereditary nonpolyposis colon cancer, Polymerase proofreading-related adenomatous polyposis, Zika virus infectious disease, regressive spondylometaphyseal dysplasia, Jeune syndrome, Li-Fraumeni syndrome, posterior cortical atrophy, 22q11.2 deletion syndrome, Loeys-Dietz syndrome, congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization, intrahepatic cholestasis, bronchopulmonary dysplasia, Hirschsprung disease, mucinous adenocarcinoma of the appendix, Lhermitte-Duclos disease, sarcoidosis, peeling skin syndrome, Fanconi anemia, dysspondyloenchondromatosis, adult T-cell leukemia/lymphoma, extranodal nasal NK/T cell lymphoma, Turner syndrome, acute liver failure, discoid lupus erythematosus, familial thoracic aortic aneurysm and aortic dissection, renal hypoplasia, renal dysplasia, spondyloepiphyseal dysplasia tarda, ulnar hemimelia, radial hemimelia, growth hormone-producing pituitary gland neoplasm, encephalitis, Ehlers-Danlos syndrome, muscular dystrophy, autosomal dominant cerebellar ataxia, precursor B-cell acute lymphoblastic leukemia, chronic graft versus host disease, superficial spreading melanoma, renal pelvis/ureter urothelial carcinoma, tubulointerstitial kidney disease, autosomal dominant, 2, lung neoplasm, intestinal neoplasm, prostate neoplasm, mucoepidermoid carcinoma of parotid gland, neoplasm of esophagus, tumor of parathyroid gland, polyp of colon, low grade glioma, coronary atherosclerosis, gram-negative bacterial infections, sexually transmitted disease, radiculitis, viral myocarditis, lip and oral cavity carcinoma, immunodeficiency 14b, autosomal recessive, corneal infection, pseudoxanthoma elasticum (inherited or acquired), respiratory tract infectious disorder, chondrogenic neoplasm, squamous cell intraepithelial neoplasia, liver and intrahepatic bile duct neoplasm, hypertensive nephropathy, myocardial disorder, tubular adenoma, synucleinopathy, pulmonary sarcoidosis, gonorrhea, chronic lymphocytic leukemia, neoplasm of mature B-cells, gastric carcinoma, head and neck squamous cell carcinoma, hepatocellular carcinoma, metastatic prostate cancer, T-cell acute lymphoblastic leukemia, unspecified peripheral T-cell lymphoma, Hodgkins lymphoma, invasive breast ductal carcinoma, metabolic syndrome, oral squamous cell carcinoma, acute lymphoblastic leukemia, acute myeloid leukemia, adenocarcinoma, adenoma, adenosquamous lung carcinoma, adrenal gland pheochromocytoma, alveolar rhabdomyosarcoma, aortic stenosis, astrocytoma, atopic eczema, atrial fibrillation, benign prostatic hyperplasia, breast adenocarcinoma, breast carcinoma, bronchoalveolar adenocarcinoma, Burkitts lymphoma, carcinoma, cardiomyopathy, cardiovascular disease, chondrosarcoma, chronic myelogenous leukemia, chronic obstructive pulmonary disease, chronic pancreatitis, clear cell renal carcinoma, endometrial carcinoma, renal fibrosis, Adenomyosis, immunoproliferative small intestinal disease, Posterior Leukoencephalopathy Syndrome, amyloidosis, neuroendocrine neoplasm, Spinal cord injury, B-cell non-Hodgkins lymphoma, colon adenocarcinoma, colon carcinoma, colorectal carcinoma, intrahepatic cholangiocarcinoma, pharyngeal squamous cell carcinoma, connective tissue disease, pneumonitis, Carcinoma, Lewis Lung, soft tissue sarcoma, adult onset asthma, chronic rhinosinusitis with nasal polyps, chronic rhinosinusitis without nasal polyps, renal hypertension, glomerular disease, nephritis, positive regulation of ovulation, Neurogenic bladder, Inguinal hernia, Abnormality of the urinary system, Renal insufficiency, Glomerular sclerosis, Glomerulonephritis, Nephropathy, Nephrocalcinosis, Uterine leiomyoma, Cleft palate, Retrognathia, Strabismus, Cataract, Proptosis, Myopia, Pectus excavatum, Infertility, Hematuria, Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Abnormality of the skeletal system, Osteopenia, Osteoporosis, Jaundice, Eczematoid dermatitis, Global developmental delay, Stroke, Encephalopathy, Parkinsonism, Rheumatoid arthritis, Cirrhosis, Hepatic fibrosis, Cholestasis, Hepatic steatosis, Obesity, ornithine carbamoyltransferase deficiency, pseudomyxoma peritonei, silicosis, spinal stenosis, BMI-adjusted waist-hip ratio, BMI-adjusted waist circumference, body fat percentage, balding measurement, liver dysplastic nodule, wellbeing measurement, insomnia measurement, eosinophil percentage of leukocytes, eosinophil percentage of granulocytes, BMI-adjusted hip circumference, calf circumference measurement, chronic hepatitis, dysplasia, interstitial cystitis, lobular breast carcinoma, nodular melanoma, non-functioning pituitary adenoma, oral lichen planus, rhinitis, small cell carcinoma, status epilepticus, steatosis, urothelial carcinoma, Hepatobiliary Neoplasm, acute myocardial infarction, peritonitis, pemphigus foliaceus, paraneoplastic pemphigus, cystic kidney disease, ovarian dysfunction, Arteritis, Polyarteritis Nodosa, arteriosclerosis, idiopathic dilated cardiomyopathy, hyperuricemia, female reproductive endometrioid cancer, skin carcinoma, heel bone mineral density, marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections, central nervous system disease, sum of eosinophil and basophil counts, lower respiratory tract disease, pulmonary fibrosis, infarction, corneal disease, vertebral joint disease, aortic valve disease, cervical disc degenerative disorder, hemorrhoid, mitral valve disease, feeling nervous measurement, stomach disease, myocarditis, aneurysm, laryngeal disease, musculoskeletal system disease, Gallbladder Adenocarcinoma, Gallbladder Adenoma, Gastric Neuroendocrine Tumor G1, Granular Cell Tumor, Hepatoblastoma, HER2 Positive Breast Carcinoma, Invasive Breast Carcinoma, Mast Cell Sarcoma, Nasal Cavity Polyp, Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation, Ovarian Endometriosis, Ovarian Granulosa Cell Tumor, Peritoneal Multicystic Mesothelioma, Pituitary Gland Adenoma, Placental Choriocarcinoma, Pleural Epithelioid Mesothelioma, Poorly Differentiated Thyroid Gland Carcinoma, Rectal Tubular Adenoma, Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions, Signet Ring Cell Gastric Adenocarcinoma, small intestinal adenocarcinoma, Spinal Chordoma, Testicular Embryonal Carcinoma, Thyroid Gland Oncocytic Follicular Carcinoma, Thyroid Gland Undifferentiated (Anaplastic) Carcinoma, Uterine Carcinosarcoma, Vaginal Melanoma, hamartoma, acute respiratory distress syndrome, rectum cancer, acanthosis nigricans, cholesteatoma, Primary Pulmonary Diffuse Large B-Cell Lymphoma, developmental dysplasia of the hip, sarcopenia, mucous membrane pemphigoid, osteoarthritis, hip, osteoarthritis, spine, adrenal cortex carcinoma, adrenal gland hyperfunction, alcoholic cardiomyopathy, aortitis, atrial heart septal defect, causalgia, coronary aneurysm, diastolic heart failure, dry eye syndrome, Helicobacter pylori infectious disease, inflammatory breast carcinoma, joint disease, lipoid nephrosis, mouth disease, multiple system atrophy, myeloid sarcoma, ocular hypertension, parathyroid adenoma, proliferative vitreoretinopathy, pulmonary edema, pulpitis, Raynaud disease, renovascular hypertension, rheumatic heart disease, Schnitzler syndrome, thromboangiitis obliterans, ulcerative proctosigmoiditis, uremia, non-alcoholic steatohepatitis, rotator cuff tear, Anemia, Hemolytic, Autoimmune, Cardiac Tamponade, End Stage Liver Disease, Endometritis, Escherichia coli Infections, Genital neoplasm, female, Heavy Chain Disease, Hepatopulmonary Syndrome, Lentivirus Infections, Myocardial Ischemia, Periapical Periodontitis, Peritoneal Fibrosis, Tularemia, diabetic cardiomyopathy, endothelial dysfunction, gliosarcoma, Mantle cell lymphoma, Merkel cell skin cancer, metastatic colorectal cancer, enterocolitis, primary biliary cirrhosis, abortion, psoriasis vulgaris, Autosomal dominant polycystic kidney disease, osteoporosis-pseudoglioma syndrome, primary hyperoxaluria type 2, hyperimmunoglobulinemia D with periodic fever, autosomal recessive polycystic kidney disease, Senior-Loken syndrome 1, reticular dysgenesis, schneckenbecken dysplasia, combined immunodeficiency due to ZAP70 deficiency, familial isolated congenital asplenia, brachyolmia type 1, Hobaek type, brachyolmia type 1, toledo type, spondyloperipheral dysplasia, thoracomelic dysplasia, congenital bilateral aplasia of vas deferens from CFTR mutation, Wilson disease, X-linked spondyloepimetaphyseal dysplasia, hypoxanthine guanine phosphoribosyltransferase partial deficiency, Bruton-type agammaglobulinemia, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, combined immunodeficiency due to moesin deficiency, Wiskott-Aldrich syndrome, Aarskog-Scott syndrome, X-linked, hyper-IgM syndrome type 1, Melnick-Needles syndrome, Bartsocas-Papas syndrome 1, pulmonary venoocclusive disease, spondyloepimetaphyseal dysplasia, Irapa type, SHOX-related short stature, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, Duchenne muscular dystrophy, X-linked retinoschisis, spondyloepiphyseal dysplasia tarda, X-linked, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Timothy syndrome, supranuclear palsy, progressive, 1, skeletal dysplasia-epilepsy-short stature syndrome, hereditary mixed polyposis syndrome, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, Ehlers-Danlos syndrome, musculocontractural type, spondyloepimetaphyseal dysplasia, Missouri type, axial spondylometaphyseal dysplasia, severe combined immunodeficiency due to DCLRE1C deficiency, spondyloepimetaphyseal dysplasia, Shohat type, myotonic dystrophy type 2, radioulnar synostosis-microcephaly-scoliosis syndrome, spondyloepimetaphyseal dysplasia with multiple dislocations, Omenn syndrome, xanthinuria type II, autoimmune lymphoproliferative syndrome type 2A, nephronophthisis 3, pyogenic arthritis-pyoderma gangrenosum-acne syndrome, hyper-IgM syndrome type 2, immunodeficiency due to CD25 deficiency, lymphangioleiomyomatosis, gastrointestinal stromal tumor, hyper-IgM syndrome type 3, multiple epiphyseal dysplasia type 5, anauxetic dysplasia, autoimmune lymphoproliferative syndrome type 2B, Smith-McCort dysplasia 1, granular corneal dystrophy type II, acrocapitofemoral dysplasia, endometrial cancer, hyper-IgM syndrome type 5, hyper-IgM syndrome type 4, neutrophil immunodeficiency syndrome, familial adenomatous polyposis 2, spondyloepimetaphyseal dysplasia, matrilin-3 type, familial avascular necrosis of femoral head, immunodeficiency 104, spondylometaphyseal dysplasia, A4 type, epidermolysis bullosa simplex 7, with nephropathy and deafness, permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, mesoaxial synostotic syndactyly with phalangeal reduction, hyperinsulinemic hypoglycemia, familial, 4, Mungan syndrome, familial cold autoinflammatory syndrome 2, aortic aneurysm, familial thoracic 6, hypouricemia, renal, 2, dopa-responsive dystonia due to sepiapterin reductase deficiency, combined immunodeficiency due to STIM1 deficiency, atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, atypical hemolytic-uremic syndrome with I factor anomaly, atypical hemolytic-uremic syndrome with B factor anomaly, atypical hemolytic-uremic syndrome with C3 anomaly, atypical hemolytic-uremic syndrome with thrombomodulin anomaly, lymphoproliferative syndrome 1, purine nucleoside phosphorylase deficiency, spondylo-megaepiphyseal-metaphyseal dysplasia, brachydactylous dwarfism, Mseleni type, spondyloepimetaphyseal dysplasia, Handigodu type, hemolytic anemia due to glucophosphate isomerase deficiency, alpha 1-antitrypsin deficiency, occult macular dystrophy, papillary thyroid carcinoma, periodontitis, polycystic ovary syndrome, polyp, preeclampsia, prostate adenocarcinoma, psoriasis, renal cell carcinoma, respiratory system disease, sarcoma, severe acute respiratory syndrome, Sjogren syndrome, skin disease, small cell lung carcinoma, rheumatoid arthritis, spindle cell tumor, spondyloarthropathy, squamous cell carcinoma, squamous cell lung carcinoma, systemic scleroderma, ulcerative colitis, uterine fibroid, melanoma, malignant peripheral nerve sheath tumor, viral disease, HIV infection, AIDS, idiopathic pulmonary fibrosis, malignant pleural mesothelioma, bacterial disease, temporal lobe epilepsy, myositis, leprosy, celiac disease, cervical carcinoma, cytomegalovirus infection, Down syndrome, endometriosis, experimental autoimmune encephalomyelitis, parasitic infection, lung carcinoma, ovarian carcinoma, post-traumatic stress disorder, pulmonary arterial hypertension, synovial sarcoma, autosomal dominant polycystic liver disease, cerebral creatine deficiency syndrome, arterial disorder, glomerulosclerosis, small intestinal neuroendocrine tumor G1, breast benign neoplasm, central nervous system primitive neuroectodermal neoplasm, vertebral column disorder, cerebral cavernous malformation, interstitial emphysema, gastric cancer, essential hypertension, hypertensive heart disease, familial hyperlipidemia, impaired renal function disease, myopia, nephrocalcinosis, leiomyoma, prolapse of female genital organ, brain cancer, nontoxic goiter, pure red-cell aplasia, crescentic glomerulonephritis, tuberous sclerosis, depressive disorder, ventricular septal defect, pneumothorax, Richter syndrome, thyroid cancer, giant cell tumor, spondylosis, papilloma, kidney cancer, dermatitis, prostatic adenoma, lobular neoplasia, gingival overgrowth, papillary adenocarcinoma, digestive system cancer, inherited lipid metabolism disorder, skin squamous cell carcinoma, teratocarcinoma, teratoma, bone inflammation disease, small cell osteogenic sarcoma, cerebral infarction, liver cancer, uterine cancer, anal canal adenocarcinoma, skin cancer, cerebellar neoplasm, cervical cancer, breast angiosarcoma, bile duct adenocarcinoma, thoracic cancer, colonic disorder, functioning pituitary gland adenoma, anal canal squamous cell carcinoma, pancreatic intraductal papillary-mucinous neoplasm, muscular atrophy, female breast carcinoma, retinal degeneration, MHC class II deficiency 4, immunodeficiency 122, inflammation, circulating fibrinogen levels, glomerular filtration rate, fat pad mass, hip circumference, bone tissue density, von Willebrand factor quality, waist circumference, age of onset of asthma, level of serum globulin type protein, red blood cell density, serum alanine aminotransferase amount, heart rate, age of onset of allergic disease, brain volume, serum albumin amount, serum creatinine amount, body height, cyst, X-linked hyper-IgM syndrome, Brachydactyly - elbow wrist dysplasia, Chronic mucocutaneous candidosis, Desbuquois syndrome, Chédiak-Higashi syndrome, Recurrent infection due to specific granule deficiency, Immunodeficiency syndrome with autoimmunity, Metaphyseal chondrodysplasia, Schmid type, Åland Islands eye disease, Ichthyosis - intellectual disability - dwarfism - renal impairment, Autosomal recessive early-onset inflammatory bowel disease, X-linked lymphoproliferative disease, Metaphyseal dysostosis - intellectual disability - conductive deafness, CHST3-related skeletal dysplasia, Cyclic neutropenia, Severe combined immunodeficiency due to adenosine deaminase deficiency, Aneurysm - osteoarthritis syndrome, Rare disease with thoracic aortic aneurysm and aortic dissection, Multiple osteochondromas, Recurrent infections-myelofibrosis-nephromegaly syndrome, Acromesomelic dysplasia, Maroteaux type, Hyperlipoproteinemia type 1, X-linked agammaglobulinemia, Familial hemophagocytic lymphohistiocytosis, Immunodeficiency by defective expression of HLA class 2, Pyogenic arthritis - pyoderma gangrenosum - acne, Familial adenomatous polyposis, Thymic aplasia, Other metabolic disease, Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification, Hypohidrotic ectodermal dysplasia with immunodeficiency, Leukocyte adhesion deficiency type III, hematocrit, C-reactive protein measurement, glucose measurement, hemoglobin measurement, bone quantitative ultrasound measurement, triglyceride measurement, alkaline phosphatase measurement, creatine kinase measurement, cryptorchidism, total cholesterol measurement, gestational diabetes, low density lipoprotein cholesterol measurement, lymphocyte count, acute lung injury, high density lipoprotein cholesterol measurement, osteoarthritis, knee, cystatin C measurement, factor VII measurement, IGF-1 measurement, factor VIII measurement, white matter integrity, hip geometry, factor XI measurement, intraocular pressure measurement, sex hormone-binding globulin measurement, age at menarche, pelvic organ prolapse, FEV/FVC ratio, prion disease, aspartate aminotransferase measurement, protein measurement, neutrophil count, eosinophil count, lymph node metastatic carcinoma, appendicular lean mass, lumbar disc degeneration, lean body mass, type 2 diabetes nephropathy, autoimmune disease, congenital heart disease, central corneal thickness, cholangiocarcinoma, reading, anxiety, primitive neuroectodermal tumor, aortic valve calcification, non-small cell lung adenocarcinoma, axial length measurement, contact dermatitis, vein disorder, in situ carcinoma, inborn disorder of amino acid metabolism, allergic asthma, fatty liver disease, alopecia, hypoplastic left heart syndrome, Alzheimer disease, asthma, urinary bladder carcinoma, cancer, glaucoma, schizophrenia, upper respiratory tract disorder, type 1 diabetes mellitus, type 2 diabetes mellitus, pulmonary hypertension, osteoarthritis, Parkinson disease, pancreatic ductal adenocarcinoma, bacterial urinary tract infection, allergic disease, multiple sclerosis, skin basal cell carcinoma, childhood onset asthma, colorectal cancer, Lynch syndrome, Wilms tumor, prune belly syndrome, Adams-Oliver syndrome, Acropectorovertebral dysplasia, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, Tietz syndrome, autosomal dominant Alport syndrome, Townes-Brocks syndrome, atelosteogenesis type III, Osebold-Remondini syndrome, brachydactyly type C, autosomal dominant brachyolmia, Gordon syndrome, breast cancer, chondrocalcinosis 2, congenital contractural arachnodactyly, fleck corneal dystrophy, Duane retraction syndrome, Leri-Weill dyschondrosteosis, Beckwith-Wiedemann syndrome, esophageal cancer, autoinflammatory syndrome, familial, X-linked, Behcet-like 2, immunodeficiency 98 with autoinflammation, X-linked, metastatic malignant neoplasm, granulomatous disease, chronic, autosomal recessive, 5, hyper-IgE recurrent infection syndrome 5, autosomal recessive, immunodeficiency 81, immunodeficiency 82 with systemic inflammation, inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive, immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, immunodeficiency 75, immunodeficiency 76, nephrotic syndrome 16, immunodeficiency 69, immunodeficiency 78 with autoimmunity and developmental delay, immunodeficiency 70, immunodeficiency 72 with autoinflammation, immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, autoinflammation, immune dysregulation, and eosinophilia, severe combined immunodeficiency due to CD70 deficiency, myofibroblastoma, invasive carcinoma, adenoviridae infectious disease, brain injury, nosocomial infection, enteritis, ulcer disease, radiation pneumonitis, familial adenomatous polyposis 4, severe combined immunodeficiency due to LAT deficiency, desmoplastic melanoma, myelofibrosis, salivary duct carcinoma, oral cavity carcinoma, rectal carcinoma, vertebral disorder, digestive system melanoma, short-rib thoracic dysplasia 17 with or without polydactyly, platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, COVID-19, liver failure, COVID-19–associated multisystem inflammatory syndrome in adults, disease arising from reactivation of latent virus, Friedreich ataxia, malignant glioma, spondyloepimetaphyseal dysplasia, gastrointestinal defects and immunodeficiency syndrome 1, immunodeficiency 105, autoinflammatory disease, X-linked, autoinflammatory syndrome with immunodeficiency, achalasia-alacrima syndrome, choroidal neovascularization, rhizomelic dysplasia, Ain-Naz type, autoinflammatory disease, multisystem, with immune dysregulation, X-linked, hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, immunodeficiency 113 with autoimmunity and autoinflammation, immunodeficiency 117, neutropenia, severe congenital, 11, autosomal dominant, autoinflammation with episodic fever and immune dysregulation, immunodeficiency 119, postmenopausal osteoporosis, dissection, uterine neoplasm, pancreatic neoplasm, kidney neoplasm, brain aneurysm, colitis, osteoporosis, chronic kidney disease, ovarian neoplasm, acne, ankylosing spondylitis, deep vein thrombosis, angina pectoris, atherosclerosis, necrotizing enterocolitis, gastroesophageal reflux disease, seasonal allergic rhinitis, breast neoplasm, left ventricular hypertrophy, stomach neoplasm, obstructive sleep apnea, relapsing-remitting multiple sclerosis, angiosarcoma, colorectal neoplasm, neuropathy, open-angle glaucoma, basal cell carcinoma, IGA glomerulonephritis, hepatitis B virus infection, skin neoplasm, Vitiligo, hypospadias, Keloid, Abdominal Aortic Aneurysm, chronic hepatitis C virus infection, eosinophilic esophagitis, exfoliation syndrome, focal segmental glomerulosclerosis, chronic hepatitis B virus infection, interstitial lung disease, mucocutaneous lymph node syndrome, meningococcal infection, membranous glomerulonephritis, nephrotic syndrome, osteonecrosis, bone disease, vascular disease, peripheral arterial disease, sclerosing cholangitis, scoliosis, brain infarction, thoracic aortic aneurysm, ventricular fibrillation, colonic neoplasm, erythrocyte count, platelet count, vital capacity, forced expiratory volume, smoking behavior, body weight, body mass index, body fat distribution, waist-hip ratio, corneal topography, neuroimaging measurement, metastatic neoplasm, wheezing, enthesitis-related juvenile idiopathic arthritis, Chronic Obstructive Asthma, carotid atherosclerosis, pulse wave reflection index measurement, total hip arthroplasty, kidney injury, muscle atrophy, chromosomal aberration frequency, bone metastasis, HMG CoA reductase inhibitor use measurement, Inhalant adrenergic use measurement, Glucocorticoid use measurement, low density lipoprotein triglyceride measurement, diverticular disease, corneal resistance factor, citrate measurement, cholesteryl ester measurement, glucuronate measurement, isocitrate measurement, atopic asthma, coinfection, total joint arthroplasty, aspartate aminotransferase to alanine aminotransferase ratio, nephrotoxicity, inflammatory bowel disease, immunodeficiency, and encephalopathy, severe malarial anemia, total knee arthroplasty, palmitate 16:0 measurement, sexual dimorphism measurement, body surface area, serum lipopolysaccharide activity, Birt-Hogg-Dube syndrome, 25-hydroxyvitamin D3 measurement, cecum adenocarcinoma, chronic rhinosinusitis, cystitis, granulosa cell tumor, ovarian clear cell adenocarcinoma, pancreatic adenocarcinoma, pancreatic neuroendocrine tumor, pulmonary tuberculosis, tongue squamous cell carcinoma, nasopharyngeal squamous cell carcinoma, Acute Leukemia, Ampulla of Vater Carcinoma, Appendix Adenocarcinoma, Atrophy, Atypical Meningioma, Bladder Small Cell Neuroendocrine Carcinoma, Cavernous Hemangioma, Central Nervous System Lymphoma, Cervical Adenosquamous Carcinoma, cervical squamous cell carcinoma, Colon Dysplasia, Duodenal Adenocarcinoma, Endometrial Clear Cell Adenocarcinoma, Endometrial Endometrioid Adenocarcinoma, Endometrial Undifferentiated Carcinoma, Fibroblastic Neoplasm, hereditary diffuse gastric adenocarcinoma, Holt-Oram syndrome, Huntington disease, nonpapillary renal cell carcinoma, Pallister-Hall syndrome, periodic fever, immunodeficiency, and thrombocytopenia syndrome, platyspondylic dysplasia, Torrance type, systemic lupus erythematosus, Marfan syndrome, melorheostosis, mesomelic dysplasia, Kantaputra type, metatropic dysplasia, Mobius syndrome, Muir-Torre syndrome, Cowden syndrome 1, myotonic dystrophy type 1, nail-patella syndrome, autosomal dominant progressive nephropathy with hypertension, ovarian cancer, Peyronie disease, polyostotic fibrous dysplasia, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Hutchinson-Gilford progeria syndrome, familial juvenile hyperuricemic nephropathy type 1, Peutz-Jeghers syndrome, prostate cancer, pseudoachondroplasia, autosomal dominant distal renal tubular acidosis, retinoblastoma, Smith-Magenis syndrome, spondyloepiphyseal dysplasia tarda, autosomal dominant, spondyloepimetaphyseal dysplasia, Strudwick type, spondylometaphyseal dysplasia, Kozlowski type, spondylometaphyseal dysplasia, Schmidt type, proximal symphalangism, syndactyly type 5, brachydactyly-elbow wrist dysplasia syndrome, tarsal-carpal coalition syndrome, thoracolaryngopelvic dysplasia, tooth and nail syndrome, volvulus of midgut, short-limb skeletal dysplasia with severe combined immunodeficiency, acrocallosal syndrome, acrodermatitis enteropathica, acromesomelic dysplasia 2C, Hunter-Thompson type, agnathia-otocephaly complex, autosomal recessive Alport syndrome, amelogenesis imperfecta type 1G, microphthalmia with limb anomalies, progressive pseudorheumatoid arthropathy of childhood, Bloom syndrome, kyphomelic dysplasia, lung cancer, heart defects-limb shortening syndrome, chordoma, Juberg-Hayward syndrome, Costello syndrome, cystic fibrosis, hereditary renal hypouricemia, diastrophic dysplasia, Dyggve-Melchior-Clausen disease, Ehlers-Danlos syndrome, dermatosparaxis type, multiple epiphyseal dysplasia type 4, classic Hodgkin lymphoma, immunodeficiency, common variable, 2, ichthyosis-intellectual disability-dwarfism-renal impairment syndrome, Nezelof syndrome, spondylometaphyseal dysplasia, Sedaghatian type, metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, Nijmegen breakage syndrome, Miyoshi myopathy, carnitine palmitoyl transferase II deficiency, myopathic form, Schwartz-Jampel syndrome, Leigh syndrome, nail-patella-like renal disease, nephronophthisis 1, congenital nephrotic syndrome, Finnish type, multiple myeloma, cervical adenocarcinoma, liver disease, cirrhosis of liver, lymphoid neoplasm, coronary artery disease, prostate carcinoma, aortic aneurysm, human papilloma virus infection, fibrosarcoma, benign neoplasm, hypertrophy, anaplastic astrocytoma, cardiac hypertrophy, medical procedure, AIDS dementia, juvenile idiopathic arthritis, insulin resistance, prostate intraepithelial neoplasia, septic peritonitis, vulvar intraepithelial neoplasia, renal carcinoma, thyroid carcinoma, metastatic melanoma, pancreatic carcinoma, rotavirus infection, Cutaneous T-cell lymphoma, ovarian serous adenocarcinoma, rhabdomyosarcoma, medulloblastoma, muscular disease, transitional cell carcinoma of kidney, anaplastic large cell lymphoma, bacteriemia, hepatitis C virus infection, non-small cell lung carcinoma, kidney disease, non-alcoholic fatty liver disease, peripheral neuropathy, testicular seminoma, pneumonia, heart failure, vitamin D deficiency, inflammatory bowel disease, diabetic retinopathy, heart disease, psoriatic arthritis, refractory anemia with ringed sideroblasts, laryngeal neoplasm, lung disease, brain neoplasm, calcification, retinopathy, thyroid neoplasm
    tissue_specific_expression
    breast0
    atrium auricular region1
    liver0
    skeletal muscle tissue1
    EBV-transformed lymphocyte0
    esophagus mucosa1
    macrophage-1
    adipose tissue0
    segmented neutrophil of bone marrow-1
    CD34-negative, CD41-positive, CD42-positive megakaryocyte cell-1
    class switched memory B cell0
    CD14-positive, CD16-negative classical monocyte3
    Brodmann (1909) area 90
    CD4-positive, alpha-beta thymocyte1
    zone of skin1
    leukocyte0
    nasopharynx-1
    tonsil0
    frontal lobe0
    cerebellar hemisphere-1
    putamen0
    hematopoietic stem cell-1
    effector memory CD4-positive, alpha-beta T cell0
    testis-1
    bronchus-1
    sigmoid colon0
    fallopian tube0
    plasma cell-1
    aorta0
    adrenal gland-1
    kidney0
    endometrium0
    smooth muscle tissue0
    tibial artery0
    prefrontal cortex0
    CD8-positive, alpha-beta T cell-1
    vermiform appendix0
    lymph node0
    duodenum0
    mature eosinophil0
    prostate gland1
    C1 segment of cervical spinal cord-1
    lung0
    inflammatory macrophage-1
    rectum0
    suprapubic skin0
    brain-1
    coronary artery0
    parathyroid gland-1
    Brodmann (1909) area 240
    esophagus muscularis mucosa0
    esophagus1
    transformed skin fibroblast1
    heart muscle-1
    pancreas0
    uterus0
    placenta0
    seminal vesicle-1
    hippocampus-1
    effector memory CD8-positive, alpha-beta T cell0
    endothelial cell of umbilical vein (resting)0
    minor salivary gland0
    endocervix1
    central memory CD8-positive, alpha-beta T cell0
    CD8-positive, alpha-beta thymocyte-1
    granulocyte monocyte progenitor cell-1
    caudate nucleus0
    amygdala0
    temporal lobe0
    substantia nigra-1
    abdomen-1
    common lymphoid progenitor0
    cerebral cortex0
    endothelial cell of umbilical vein (proliferating)0
    blood-1
    nucleus accumbens0
    stomach0
    oral mucosa-1
    mature neutrophil0
    central memory CD4-positive, alpha-beta T cell0
    bone marrow-1
    gall bladder1
    colon0
    cytotoxic CD56-dim natural killer cell-1
    pituitary gland0
    transverse colon0
    heart left ventricle0
    erythroblast-1
    vagina1
    ovary1
    megakaryocyte-erythroid progenitor cell-1
    subcutaneous adipose tissue1
    cerebellum-1
    hypothalamus-1
    common myeloid progenitor-1
    hematopoietic multipotent progenitor cell-1
    alternatively activated macrophage-1
    thyroid gland1
    lower leg skin0
    epididymis-1
    spleen0
    esophagogastric junction0
    greater omentum1
    memory B cell0
    hippocampus proper-1
    CD4-positive, alpha-beta T cell-1
    small intestine1
    conventional dendritic cell-1
    cortex of kidney0
    small intestine Peyer's patch0
    heart-1
    CD3-positive, CD4-positive, CD8-positive, double positive thymocyte-1
    caudate-putamen-1
    urinary bladder1
    ectocervix1
    regulatory T cell-1
    CD38-negative naive B cell1
    saliva-secreting gland0
    neutrophilic metamyelocyte-1
    tibial nerve0
    genetic_constraint
    syn-0.12650999426841736
    mis4.360300064086914
    lof0.9999799728393555
    Tissue-specific expression
    breast0
    atrium auricular region1
    liver0
    skeletal muscle tissue1
    EBV-transformed lymphocyte0
    esophagus mucosa1
    macrophage-1
    adipose tissue0
    segmented neutrophil of bone marrow-1
    CD34-negative, CD41-positive, CD42-positive megakaryocyte cell-1
    class switched memory B cell0
    CD14-positive, CD16-negative classical monocyte3
    Brodmann (1909) area 90
    CD4-positive, alpha-beta thymocyte1
    zone of skin1
    leukocyte0
    nasopharynx-1
    tonsil0
    frontal lobe0
    cerebellar hemisphere-1
    putamen0
    hematopoietic stem cell-1
    effector memory CD4-positive, alpha-beta T cell0
    testis-1
    bronchus-1
    sigmoid colon0
    fallopian tube0
    plasma cell-1
    aorta0
    adrenal gland-1
    kidney0
    endometrium0
    smooth muscle tissue0
    tibial artery0
    prefrontal cortex0
    CD8-positive, alpha-beta T cell-1
    vermiform appendix0
    lymph node0
    duodenum0
    mature eosinophil0
    prostate gland1
    C1 segment of cervical spinal cord-1
    lung0
    inflammatory macrophage-1
    rectum0
    suprapubic skin0
    brain-1
    coronary artery0
    parathyroid gland-1
    Brodmann (1909) area 240
    esophagus muscularis mucosa0
    esophagus1
    transformed skin fibroblast1
    heart muscle-1
    pancreas0
    uterus0
    placenta0
    seminal vesicle-1
    hippocampus-1
    effector memory CD8-positive, alpha-beta T cell0
    endothelial cell of umbilical vein (resting)0
    minor salivary gland0
    endocervix1
    central memory CD8-positive, alpha-beta T cell0
    CD8-positive, alpha-beta thymocyte-1
    granulocyte monocyte progenitor cell-1
    caudate nucleus0
    amygdala0
    temporal lobe0
    substantia nigra-1
    abdomen-1
    common lymphoid progenitor0
    cerebral cortex0
    endothelial cell of umbilical vein (proliferating)0
    blood-1
    nucleus accumbens0
    stomach0
    oral mucosa-1
    mature neutrophil0
    central memory CD4-positive, alpha-beta T cell0
    bone marrow-1
    gall bladder1
    colon0
    cytotoxic CD56-dim natural killer cell-1
    pituitary gland0
    transverse colon0
    heart left ventricle0
    erythroblast-1
    vagina1
    ovary1
    megakaryocyte-erythroid progenitor cell-1
    subcutaneous adipose tissue1
    cerebellum-1
    hypothalamus-1
    common myeloid progenitor-1
    hematopoietic multipotent progenitor cell-1
    alternatively activated macrophage-1
    thyroid gland1
    lower leg skin0
    epididymis-1
    spleen0
    esophagogastric junction0
    greater omentum1
    memory B cell0
    hippocampus proper-1
    CD4-positive, alpha-beta T cell-1
    small intestine1
    conventional dendritic cell-1
    cortex of kidney0
    small intestine Peyer's patch0
    heart-1
    CD3-positive, CD4-positive, CD8-positive, double positive thymocyte-1
    caudate-putamen-1
    urinary bladder1
    ectocervix1
    regulatory T cell-1
    CD38-negative naive B cell1
    saliva-secreting gland0
    neutrophilic metamyelocyte-1
    tibial nerve0
    Transcripts (11)
    Transcript IDExonsOther
    ENST00000327367.99
    ENST00000439724.79
    ENST00000537194.67
    ENST00000540846.69
    ENST00000558894.68
    ENST00000560424.210
    ENST00000679624.19
    ENST00000681239.19
    ENST00000714108.17
    ENST00000714109.18
    ENST00000714110.19
    Isoforms
    Isoforms - General localization
    CytoplasmNucleus
    Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 . Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 . Co-localizes with LEMD3 at the nucleus inner membrane . MAPK-mediated phosphorylation appears to have no effect on nuclear import . PDPK1 prevents its nuclear translocation in response to TGF-beta . Localized mainly to the nucleus in the early stages of embryo development with expression becoming evident in the cytoplasm of the inner cell mass at the blastocyst stage (By similarity)
    BioGRID Interactions
    Human interactions: 591 Non-human interactions: 77
    Human interactions (19 types, 591 partners)
    Affinity Capture-Luminescence — 7 genes
    BAG3HIF1ASMAD2SMAD4SMURF1SMURF2SP1
    Affinity Capture-MS — 96 genes
    ARID1AATG14ATG16L1ATXN2LBUB3C1ORF116CD6CDK11ACHD8CICCREBBPCSNK1DCTNNB1DCAF4DCAF7DDX3XDDX3YDDX4DHX8DNAJA2DOCK9DYRK1ADZIP3EPB41L5ERBB2IPEVA1BEZH2FAM83GFURINHINT3HSPA4IRF7IRS1ITGB4KAT6AKCTD16LACRTLDLRAD4LEMD3LRCH1LSRMAP2K3MAPK1MED16MED4NCOA3NF2OPA1OTUB1OTUD1PABPC1PARK2PJA1PLEKHA4PPIEPRNPPSPC1PTPN6RAB11FIP5RPL3RPL4RPSAP15SIK3SLC25A12SLC9A3R2SMAD1SMAD2SMAD4SMAD5SMAD9SMARCA4SMARCC1SMARCC2SMURF2SNW1SQRDLSUZ12TAF1TAF2TCP1TGFB1TMEM192TRIM33TRIM67TRIP4U2AF2UGT1A10USP33USP7VAV2WWP2YTHDF2YY1ZFP69BZFYVE9ZRANB1
    Affinity Capture-RNA — 2 genes
    DDX58TRIM25
    Affinity Capture-Western — 167 genes
    ACTBACVR1BAKT1ANAPC10ARATF2ATF3BACH1BRCA1BRCA2BTRCCBLCDC16CDC25ACDC27CDKN1ACEBPDCHRDCHUKCITED2CREBBPCSNK1DCSNK1G2CTCFCTNNB1CUL1DAB2DACH1DEDDDOCK9E2F4EID2ELAC2EP300ERBB2IPESR1EZH2FHL1FHL2FHL3FOSFOXH1FOXL2FOXM1FOXO1FOXO3FOXO4GRIP1GSK3BHDAC4HDAC5HGSHIF1AHNF4AHYAL2ID1IRF7JUNKAT2AKAT2BKAT6AKDM5CKDM6BKLF5KPNB1LEF1MAFKMECOMMED15MED24MED6MEN1METTL14METTL3MKL1MYCMYD88MYOCDNCOA1NEDD4NEDD4LNEDD9NFICNFYCNOTCH1NOTCH4NR3C1NR4A1NUP214OTUB1OTUD1OVOL2PAX6PCK2PDLIM5PIAS3PIAS4PIN1PITX1PITX2PMLPPARGPPP1R12CPRDM16PRTN3RARARBBP5RBL1RBX1RELBRGCCRNF111RNF31RUNX1RUNX2RUNX3S100A4SETD2SH2D2ASKISKILSMAD2SMAD3SMAD4SMAD7SMARCA4SMARCC2SMURF1SMURF2SOX9SP1SPTBN1SQSTM1SREBF2SRYSTRAPSTUB1SUV39H1TCF12TGFB1I1TGFBR1TGFBR2TGIF1TGIF2TOB1TP53TRIB3TRIM24TRIM33TRIM62TSC2TSC22D4UCHL1UCHL5USP15USP2USP7USP9XWWOXWWP1WWP2YAP1ZC3H12AZEB1ZEB2ZFYVE9ZMIZ1
    Biochemical Activity — 14 genes
    CDK2CDK4CDK8CDK9CSNK1DCSNK1G2MAPK1NEDD4NEDD4LOTUB1TGFBR1USP15USP7WWP2
    Co-crystal Structure — 3 genes
    SMAD3SMAD4ZFYVE9
    Co-fractionation — 40 genes
    ALKBH2ANAPC10APPARID1BCDH1CREBBPCTCFCTNNB1CUL1DDR1FOXO3HDAC1HMGA2IGF1RITGB1JUNDMTA2NAA15NT5DC3PARP1PRKDCRBM14RBX1RELARIPK1RNMTSIN3ASKP1SMAD2SMARCA4SMARCC1SMARCC2SNF8SP1SUB1TRIM33XRCC5XRCC6ZFHX3ZFYVE9
    Co-localization — 15 genes
    AKT1BMP7CAMK2GCDK2CDK4EPAS1ETS1FOXO3HIF1AIRF7MAP3K7MAPK8MAXTP53TRIM62
    Cross-Linking-MS (XL-MS) — 1 gene
    RPL10A
    FRET — 2 genes
    SMAD4STUB1
    PCA — 2 genes
    SMAD4SMAD7
    Phenotypic Enhancement — 3 genes
    HIF1ASMAD2SNW1
    Phenotypic Suppression — 2 genes
    SMAD7STRAP
    Positive Genetic — 1 gene
    JAK1
    Protein-peptide — 6 genes
    CREBBPFOXH1ITCHLEF1NEDD4PIN1
    Protein-RNA — 1 gene
    LINC00941
    Proximity Label-MS — 1 gene
    NFIA
    Reconstituted Complex — 98 genes
    ANAPC10APPARATF2ATF3BPTFBRCA1BRCA2CEBPACEBPBCEBPDCITED2CREBBPCTCFDAB2DDX5DEDDDNMT3LDVL1E2F4EID2EIF4BEP300ERBB2IPFHL1FHL2FHL3FOSFOXH1FOXM1GSK3BHDAC1HDAC4HDAC5HIF1AHIPK2HNF4AHYAL2IRF7ITCHJUNJUNBJUNDKAT2BKAT6AKPNB1LCKLEF1LEMD3MAXMDM4MECOMMYCMYOCDNEDD4NEDD4LNEDD9NFIANOTCH1NR3C1NUP153NUP214PARD3PIAS2PIAS3PIAS4PIK3CAPIN1RBL1RUNX2S100A4SH2D2ASIN3ASKISKILSMAD3SMAD4SMURF2SNW1SP1STUB1TFE3TGFB1I1TGFBR1TGIF1TP53TRIM24TRIM33TRIM62TSC2UCHL5USP15VDRWWOXXPO6YY1ZFYVE9ZMIZ1
    Two-hybrid — 130 genes
    AATFAESANK3APMAPAPOBARATF2BLZF1C10ORF54C14ORF105CCDC33CDC25ACFDP1CFHCFLARCHRDCORO1ACPSF7CPTPCREBBPCRXCSH2CXXC5CYP11A1DEDDDNAJB4DNAJB5EBI3EP300EPAS1FAM90A1FBLN1FLI1FLNAFOSFOXH1GGA1GIT2GMEB1HDAC1HEY1HEYLHIF1AHIVEP1HNRNPKHOXC11HPISL1JUNJUNBKANSL1KDM2AKMT2BLBPMCM3APMEOX2MTF2MYCMYD88NCOA6NEDD4NEDD9NR4A1PAPPAPARP4PCDH1PCK2PHC2PIAS4PIN1PLAG1PLAGL1PLGPPP1R12CPPP2R1APRDM4PROX1PSMB1PSMD11RANBP9RBPMSRBX1RCVRNRELARIOK2RNF31RPA1RPLP0SAP130SBK3SERTAD1SETD2SKILSMAD1SMAD2SMAD3SMAD4SMURF1SMURF2SNRNP70SNW1SP1SQSTM1SS18L1ST6GALNAC2SVEP1TANKTDP2TEKT4TFTGM2TLR4TMED1TSC22D4UBQLN4USP7VDRWWP1WWP2XRCC6ZBTB16ZBTB3ZC3H12AZCCHC14ZEB2ZFYVE9ZMYND11ZNF329ZNF774ZNF83
    Non-human interactions (11 types, 77 partners)
    Affinity Capture-Luminescence — 17 genes
    ARHGEF6ARHGEF7CLASRPFBXO3GSCMAP2K3PPP2R2DRAB38RASD2RGS3RRAS2SMAD2SMAD3SQSTM1TRIM35WEE1WWP2
    Affinity Capture-MS — 5 genes
    ATG16L1E6NSP6OTUB1SMAD3
    Affinity Capture-Western — 28 genes
    AXIN1COL1A1COL3A1COL5A1DDX5DOK1E6E7EP300GATA4GNB2L1HCVGP1HDAC4KLF4MED15MELKNRNF111SKISMAD3SMAD3ASMAD4TGFB1I1TOB1TOB1ATOB1BVDRZEB1
    Co-localization — 2 genes
    E7N
    PCA — 1 gene
    E6
    Phenotypic Enhancement — 1 gene
    SMAD3A
    Phenotypic Suppression — 1 gene
    SMAD3A
    Proximity Label-MS — 1 gene
    M
    Reconstituted Complex — 9 genes
    E6E7GATA4NSIN3ASMAD3SOX9YAP1ZFP128
    Synthetic Growth Defect — 1 gene
    MMP9
    Two-hybrid — 11 genes
    DVL1E6ERBB2IPFOXH1GATA4HCVGP1JUNMAGI2PARD3SMAD3ZEB2
    ChEMBL Gene-Centric Data
    Protein Structure