Gene table of SMAD3 : SMAD family member 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SMAD3	OMIM link	Number of associated genes	genes
PS609192	LOEYS-DIETZ SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	TGFB3, SMAD3, TGFBR2, TGFBR1, TGFB2

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Annotation of the gene SMAD3

Associated genes in ENSEMBL

ENSG00000166949

Associated proteins - SwissProt Accession ID

P84022

Associated PDB IDs

Cytogenetic Band

15q22.33

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 pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6
Pancreatic cancer	hsa05212	6.56
Cell cycle	hsa04110	5.68
Inflammatory bowel disease (IBD)	hsa05321	6.43
Pathways in cancer	hsa05200	3.98
Colorectal cancer	hsa05210	6.52
Chagas disease (American trypanosomiasis)	hsa05142	5.99
Adherens junction	hsa04520	6.26
Hippo signaling pathway	hsa04390	5.37
Endocytosis	hsa04144	4.92
FoxO signaling pathway	hsa04068	5.63
Chronic myeloid leukemia	hsa05220	6.48
HTLV-I infection	hsa05166	4.59
Wnt signaling pathway	hsa04310	5.49
Hepatitis B	hsa05161	5.52

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Loss of Function of SMAD4 in Cancer	R-HSA-3304347	11.4
SMAD2/3 MH2 Domain Mutants in Cancer	R-HSA-3315487	10.18
Loss of Function of SMAD2/3 in Cancer	R-HSA-3304349	10.18
Disease	R-HSA-1643685	3.33
Signaling by NODAL	R-HSA-1181150	8.73
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
SMAD4 MH2 Domain Mutants in Cancer	R-HSA-3311021	11.4
TGFBR1 KD Mutants in Cancer	R-HSA-3656532	10.18
Developmental Biology	R-HSA-1266738	3.48
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	R-HSA-2173793	7.56
Downregulation of SMAD2/3:SMAD4 transcriptional activity	R-HSA-2173795	8.46
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	R-HSA-2173796	8.03
Loss of Function of TGFBR1 in Cancer	R-HSA-3656534	10.18
SMAD2/3 Phosphorylation Motif Mutants in Cancer	R-HSA-3304356	10.4
Signaling by TGF-beta Receptor Complex in Cancer	R-HSA-3304351	9.98
Signaling by Activin	R-HSA-1502540	9.28
Diseases of signal transduction	R-HSA-5663202	4.89
Signaling by TGF-beta Receptor Complex	R-HSA-170834	6.81
TGF-beta receptor signaling activates SMADs	R-HSA-2173789	7.98
Downregulation of TGF-beta receptor signaling	R-HSA-2173788	8.28
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytokine receptor binding	GO:0005126	4.14
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
ubiquitin-like protein ligase binding	GO:0044389	4.15
signal transducer activity	GO:0004871	2.28
activating transcription factor binding	GO:0033613	5.68
transforming growth factor beta receptor binding	GO:0005160	5.81
collagen binding	GO:0005518	5.58
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
cation binding	GO:0043169	1.4
enzyme binding	GO:0019899	2.27
chromatin DNA binding	GO:0031490	5.37
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
bHLH transcription factor binding	GO:0043425	6.41
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
transforming growth factor beta receptor, cytoplasmic mediator activity	GO:0005072	7.44
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
receptor signaling protein activity	GO:0005057	4.76
ion binding	GO:0043167	1.36
ubiquitin protein ligase binding	GO:0031625	4.17
R-SMAD binding	GO:0070412	6.65
co-SMAD binding	GO:0070410	7.25
transcription factor activity, protein binding	GO:0000988	3.35
protein complex binding	GO:0032403	3.09
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor activity, RNA polymerase II core promoter sequence-specific	GO:0000983	7.1
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein homodimerization activity	GO:0042803	3.16
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcription regulatory region DNA binding	GO:0044212	3.03
regulatory region nucleic acid binding	GO:0001067	3.03
transcription factor binding	GO:0008134	3.46
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
core promoter proximal region DNA binding	GO:0001159	3.82
structure-specific DNA binding	GO:0043566	4.98
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
phosphatase binding	GO:0019902	4.63
enhancer binding	GO:0035326	5.21
RNA polymerase II activating transcription factor binding	GO:0001102	6.13
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
RNA polymerase II transcription factor binding	GO:0001085	5.08
SMAD binding	GO:0046332	5.45
chromatin binding	GO:0003682	3.64
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	GO:0030618	8.13
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
ubiquitin-like protein binding	GO:0032182	4.93
receptor binding	GO:0005102	2.43
ubiquitin binding	GO:0043130	5.09
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
zinc ion binding	GO:0008270	2.66