SRY (sex determining region Y)

2003-05-01  

Identity

HGNC
SRY
LOCATION
Yp11.2
LOCUSID
6736
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
381701862024Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.0
381706992024SRY gene isolation from teeth for forensic gender identification-An observational study.1
385552982024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.0
381701862024Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.0
381706992024SRY gene isolation from teeth for forensic gender identification-An observational study.1
385552982024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.0
367388972023Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.2
373468382023An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.0
367388972023Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.2
373468382023An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.0
346623862022Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.0
365680772022Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.0
346623862022Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.0
365680772022Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.0
330410882021No relationship between SRY variants and risk of Parkinson's disease in Chinese population.3

Citation

Dessen P

SRY (sex determining region Y)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42392/favicon/css/lib/haematological-explorer/