Gene table of SMAD6 : SMAD family member 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SMAD6	OMIM link	Number of associated genes	genes
PS109730	AORTIC VALVE DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	NOTCH1, GATA5, SMAD6, COL5A1

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Annotation of the gene SMAD6

Associated genes in ENSEMBL

ENSG00000137834

Associated proteins - SwissProt Accession ID

O43541

Associated PDB IDs

Cytogenetic Band

15q22.31

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

CREB1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Endocytosis	hsa04144	4.92

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by BMP	R-HSA-201451	8.46
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
ubiquitin-like protein ligase binding	GO:0044389	4.15
nucleic acid binding	GO:0003676	1.44
receptor serine/threonine kinase binding	GO:0033612	7.03
transforming growth factor beta receptor binding	GO:0005160	5.81
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
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
R-SMAD binding	GO:0070412	6.65
co-SMAD binding	GO:0070410	7.25
I-SMAD binding	GO:0070411	7.34
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
SMAD binding	GO:0046332	5.45
enzyme binding	GO:0019899	2.27
type I transforming growth factor beta receptor binding	GO:0034713	7.44
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
transcription regulatory region DNA binding	GO:0044212	3.03
ubiquitin protein ligase binding	GO:0031625	4.17
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity	GO:0030617	9.05
nucleic acid binding transcription factor activity	GO:0001071	2.65
type I activin receptor binding	GO:0070698	9.05
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
receptor binding	GO:0005102	2.43
chromatin binding	GO:0003682	3.64
transmembrane receptor protein serine/threonine kinase binding	GO:0070696	7.1
activin receptor binding	GO:0070697	8.13