Gene table of SOX3 : SRY-box 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SOX3	OMIM link	Number of associated genes	genes
312000	PANHYPOPITUITARISM, X-LINKED	ClinVar, OMIM	link to OMIM	1	SOX3
300123	MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM	OMIM	link to OMIM	1	SOX3

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Annotation of the gene SOX3

Associated genes in ENSEMBL

ENSG00000134595

Associated proteins - SwissProt Accession ID

P41225

Associated PDB IDs

Cytogenetic Band

Xq27.1

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

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
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transcription corepressor activity	GO:0003714	4.33
transcription cofactor activity	GO:0003712	3.44
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
regulatory region nucleic acid binding	GO:0001067	3.03
RNA polymerase II transcription cofactor activity	GO:0001104	5.22
RNA polymerase II transcription corepressor activity	GO:0001106	6.48
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
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
binding	GO:0005488	0.18