Gene table of SOX2 : SRY-box 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SOX2	OMIM link	Number of associated genes	genes
PS309800	MICROPHTHALMIA, SYNDROMIC	ClinVar, OMIM	link to OMIM	11	NAA10, BCOR, HCCS, MAB21L2, VAX1, RARB, STRA6, BMP4, HMGB3, OTX2, SOX2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6
Hippo signaling pathway	hsa04390	5.37

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by Wnt	R-HSA-195721	4.79
Transcriptional regulation of pluripotent stem cells	R-HSA-452723	7.94
Signal Transduction	R-HSA-162582	1.78
deactivation of the beta-catenin transactivating complex	R-HSA-3769402	7.59
TCF dependent signaling in response to WNT	R-HSA-201681	5.36
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation	R-HSA-2892245	11.4
Developmental Biology	R-HSA-1266738	3.48
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation	R-HSA-2892247	8.52

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
miRNA binding	GO:0035198	6.97
protein binding	GO:0005515	0.46
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
DNA binding	GO:0003677	1.92
nucleic acid binding transcription factor activity	GO:0001071	2.65
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
heterocyclic compound binding	GO:1901363	1.06
regulatory region nucleic acid binding	GO:0001067	3.03
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
regulatory region DNA binding	GO:0000975	3.03
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
RNA binding	GO:0003723	2.36