SRY (sex determining region Y)

2003-05-01  

Identity

HGNC
LOCATION
Yp11.2
LOCUSID
ALIAS
SRXX1,SRXY1,TDF,TDY

Other Information

Locus ID:

NCBI: 6736
MIM: 480000
HGNC: 11311
Ensembl: ENSG00000184895

Variants:

dbSNP: 6736
ClinVar: 6736
TCGA: ENSG00000184895
COSMIC: SRY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184895ENST00000383070Q05066
ENSG00000184895ENST00000383070A7WPU8

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402

References

Pubmed IDYearTitleCitations
193723762009Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.299
115639112001Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.45
127642252003Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.36
152978802004Regulation of human SRY subcellular distribution by its acetylation/deacetylation.29
225684332012The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism.29
228329042012Schizophrenia-associated HapICE haplotype is associated with increased NRG1 type III expression and high nucleotide diversity.29
198509342009Epigenetic gene silencing by the SRY protein is mediated by a KRAB-O protein that recruits the KAP1 co-repressor machinery.26
199142672010Review of the Y chromosome, Sry and hypertension.20
260131622015SRY and OCT4 Are Required for the Acquisition of Cancer Stem Cell-Like Properties and Are Potential Differentiation Therapy Targets.20
152663012004Mutation analysis of five candidate genes in Chinese patients with hypospadias.17

Citation

Dessen P

SRY (sex determining region Y)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42392/sry-(sex-determining-region-y)