Entity Details

Primary name SRD5A2
Entity type gene
Source Source Link

Details

PrimaryID6716
RefseqGeneNG_008365
SymbolSRD5A2
Namesteroid 5 alpha-reductase 2
Chromosome2
Location2p23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-01-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS5A2_HUMAN

GO terms

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GOName
GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006694 steroid biosynthetic process
GO:0006702 androgen biosynthetic process
GO:0007267 cell-cell signaling
GO:0008209 androgen metabolic process
GO:0008584 male gonad development
GO:0009917 sterol 5-alpha reductase activity
GO:0016021 integral component of membrane
GO:0016491 oxidoreductase activity
GO:0030154 cell differentiation
GO:0030283 testosterone dehydrogenase [NAD(P)] activity
GO:0030539 male genitalia development
GO:0047751 cholestenone 5-alpha-reductase activity
GO:0061370 testosterone biosynthetic process

Diseases

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Disease IDSourceNameDescription
264600 OMIMPseudovaginal perineoscrotal hypospadias (PPSH)A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SRD5A2CYSRT1BioGRID, IntAct32296183 details
SRD5A2GNMTBioGRID, IntAct32296183 details