Gene table of SMAD4 : SMAD family member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SMAD4	OMIM link	Number of associated genes	genes
139210	MYHRE SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SMAD4
175050	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SMAD4
260350	PANCREATIC CANCER	ClinVar, OMIM	link to OMIM	6	STK11, KRAS, ACVR1B, RBBP8, SMAD4, TP53
174900	JUVENILE POLYPOSIS SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SMAD4, BMPR1A

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Annotation of the gene SMAD4

Associated genes in ENSEMBL

ENSG00000141646

Associated proteins - SwissProt Accession ID

Q13485

Associated PDB IDs

Cytogenetic Band

18q21.2

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
Pathways in cancer	hsa05200	3.98
Colorectal cancer	hsa05210	6.52
Adherens junction	hsa04520	6.26
Hippo signaling pathway	hsa04390	5.37
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 SMAD2/3 in Cancer	R-HSA-3304349	10.18
Loss of Function of SMAD4 in Cancer	R-HSA-3304347	11.4
Disease	R-HSA-1643685	3.33
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	R-HSA-2173793	7.56
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
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Signaling by TGF-beta Receptor Complex	R-HSA-170834	6.81
SMAD4 MH2 Domain Mutants in Cancer	R-HSA-3311021	11.4
Signaling by BMP	R-HSA-201451	8.46
Transcriptional regulation of pluripotent stem cells	R-HSA-452723	7.94
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	R-HSA-2173796	8.03
TGF-beta receptor signaling activates SMADs	R-HSA-2173789	7.98
SMAD2/3 MH2 Domain Mutants in Cancer	R-HSA-3315487	10.18
Signaling by NODAL	R-HSA-1181150	8.73
Signal Transduction	R-HSA-162582	1.78
Downregulation of SMAD2/3:SMAD4 transcriptional activity	R-HSA-2173795	8.46
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleic acid binding	GO:0003676	1.44
collagen binding	GO:0005518	5.58
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
DNA binding	GO:0003677	1.92
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
receptor signaling protein activity	GO:0005057	4.76
ion binding	GO:0043167	1.36
identical protein binding	GO:0042802	2.63
R-SMAD binding	GO:0070412	6.65
transcription factor activity, transcription factor binding	GO:0000989	3.36
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 proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein homodimerization activity	GO:0042803	3.16
cation binding	GO:0043169	1.4
transcription factor binding	GO:0008134	3.46
I-SMAD binding	GO:0070411	7.34
regulatory region nucleic acid binding	GO:0001067	3.03
SMAD binding	GO:0046332	5.45
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
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
transcription regulatory region DNA binding	GO:0044212	3.03
protein heterodimerization activity	GO:0046982	3.64
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	GO:0030616	9.74
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
protein dimerization activity	GO:0046983	2.72
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65