Gene table of SRY : sex determining region Y

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SRY	OMIM link	Number of associated genes	genes
400045	46,XX SEX REVERSAL 1	OMIM	link to OMIM	1	SRY
PS400044	46,XY SEX REVERSAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	AKR1C2, AKR1C4, NR0B1, SRY, MAP3K1, CBX2, NR5A1, DHH, ZFPM2

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

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
protein binding	GO:0005515	0.46
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor binding	GO:0008134	3.46
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
calmodulin binding	GO:0005516	4.55
DNA binding, bending	GO:0008301	6.74
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
nucleic acid binding transcription factor activity	GO:0001071	2.65