Gene table of SOX9 : SRY-box 9

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SOX9	OMIM link	Number of associated genes	genes
114290	CAMPOMELIC DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SOX9
278850	46,XX SEX REVERSAL 2	ClinVar	link to OMIM	1	SOX9

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Annotation of the gene SOX9

Associated genes in ENSEMBL

ENSG00000125398

Associated proteins - SwissProt Accession ID

P48436

Associated PDB IDs

4euw

Cytogenetic Band

17q24.3

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
cAMP signaling pathway	hsa04024	5.05

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
TCF dependent signaling in response to WNT	R-HSA-201681	5.36
Signaling by Wnt	R-HSA-195721	4.79
Signal Transduction	R-HSA-162582	1.78
deactivation of the beta-catenin transactivating complex	R-HSA-3769402	7.59

Associated GO terms for Molecular function

GO term	GO ID	GO IC
enzyme binding	GO:0019899	2.27
enhancer sequence-specific DNA binding	GO:0001158	5.36
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
protein kinase A catalytic subunit binding	GO:0034236	7.03
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
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
heterocyclic compound binding	GO:1901363	1.06
pre-mRNA binding	GO:0036002	6.52
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transferase activity	GO:0016740	1.95
protein kinase activity	GO:0004672	3.27
double-stranded DNA binding	GO:0003690	3.09
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 kinase A binding	GO:0051018	6.02
sequence-specific DNA binding	GO:0043565	2.79
transcription factor binding	GO:0008134	3.46
kinase activity	GO:0016301	2.93
regulatory region nucleic acid binding	GO:0001067	3.03
beta-catenin binding	GO:0008013	5.3
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
enhancer binding	GO:0035326	5.21
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
transcription regulatory region DNA binding	GO:0044212	3.03
chromatin binding	GO:0003682	3.64
kinase binding	GO:0019900	3.32
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
pre-mRNA intronic binding	GO:0097157	7.66
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
macromolecular complex binding	GO:0044877	2.61
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
nucleic acid binding transcription factor activity	GO:0001071	2.65