Gene table of SMAD3 : SMAD family member 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with SMAD3OMIM linkNumber of associated genesgenes
PS609192LOEYS-DIETZ SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 5TGFB3, SMAD3, TGFBR2, TGFBR1, TGFB2

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Annotation of the gene SMAD3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
TGF-beta signaling pathwayhsa043506.41
Signaling pathways regulating pluripotency of stem cellshsa045505.6
Pancreatic cancerhsa052126.56
Cell cyclehsa041105.68
Inflammatory bowel disease (IBD)hsa053216.43
Pathways in cancerhsa052003.98
Colorectal cancerhsa052106.52
Chagas disease (American trypanosomiasis)hsa051425.99
Adherens junctionhsa045206.26
Hippo signaling pathwayhsa043905.37
Endocytosishsa041444.92
FoxO signaling pathwayhsa040685.63
Chronic myeloid leukemiahsa052206.48
HTLV-I infectionhsa051664.59
Wnt signaling pathwayhsa043105.49
Hepatitis Bhsa051615.52
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Loss of Function of SMAD4 in CancerR-HSA-330434711.4
SMAD2/3 MH2 Domain Mutants in CancerR-HSA-331548710.18
Loss of Function of SMAD2/3 in CancerR-HSA-330434910.18
DiseaseR-HSA-16436853.33
Signaling by NODALR-HSA-11811508.73
Generic Transcription PathwayR-HSA-2124363.86
Gene ExpressionR-HSA-741602.72
SMAD4 MH2 Domain Mutants in CancerR-HSA-331102111.4
TGFBR1 KD Mutants in CancerR-HSA-365653210.18
Developmental BiologyR-HSA-12667383.48
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimerR-HSA-21737937.56
Downregulation of SMAD2/3:SMAD4 transcriptional activityR-HSA-21737958.46
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcriptionR-HSA-21737968.03
Loss of Function of TGFBR1 in CancerR-HSA-365653410.18
SMAD2/3 Phosphorylation Motif Mutants in CancerR-HSA-330435610.4
Signaling by TGF-beta Receptor Complex in CancerR-HSA-33043519.98
Signaling by ActivinR-HSA-15025409.28
Diseases of signal transductionR-HSA-56632024.89
Signaling by TGF-beta Receptor ComplexR-HSA-1708346.81
TGF-beta receptor signaling activates SMADsR-HSA-21737897.98
Downregulation of TGF-beta receptor signalingR-HSA-21737888.28
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
cytokine receptor bindingGO:00051264.14
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
ubiquitin-like protein ligase bindingGO:00443894.15
signal transducer activityGO:00048712.28
activating transcription factor bindingGO:00336135.68
transforming growth factor beta receptor bindingGO:00051605.81
collagen bindingGO:00055185.58
RNA polymerase II regulatory region DNA bindingGO:00010123.36
cation bindingGO:00431691.4
enzyme bindingGO:00198992.27
chromatin DNA bindingGO:00314905.37
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
bHLH transcription factor bindingGO:00434256.41
heterocyclic compound bindingGO:19013631.06
sequence-specific DNA bindingGO:00435652.79
transforming growth factor beta receptor, cytoplasmic mediator activityGO:00050727.44
sequence-specific double-stranded DNA bindingGO:19908373.2
transition metal ion bindingGO:00469142.48
receptor signaling protein activityGO:00050574.76
ion bindingGO:00431671.36
ubiquitin protein ligase bindingGO:00316254.17
R-SMAD bindingGO:00704126.65
co-SMAD bindingGO:00704107.25
transcription factor activity, protein bindingGO:00009883.35
protein complex bindingGO:00324033.09
double-stranded DNA bindingGO:00036903.09
metal ion bindingGO:00468721.41
transcription factor activity, RNA polymerase II core promoter sequence-specificGO:00009837.1
RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009813.29
protein homodimerization activityGO:00428033.16
nucleic acid binding transcription factor activityGO:00010712.65
transcription regulatory region DNA bindingGO:00442123.03
regulatory region nucleic acid bindingGO:00010673.03
transcription factor bindingGO:00081343.46
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
core promoter proximal region DNA bindingGO:00011593.82
structure-specific DNA bindingGO:00435664.98
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
phosphatase bindingGO:00199024.63
enhancer bindingGO:00353265.21
RNA polymerase II activating transcription factor bindingGO:00011026.13
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
RNA polymerase II transcription factor bindingGO:00010855.08
SMAD bindingGO:00463325.45
chromatin bindingGO:00036823.64
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:00306188.13
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
organic cyclic compound bindingGO:00971591.05
ubiquitin-like protein bindingGO:00321824.93
receptor bindingGO:00051022.43
ubiquitin bindingGO:00431305.09
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
identical protein bindingGO:00428022.63
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
zinc ion bindingGO:00082702.66