steroid 5 alpha-reductase 2

Summary
Gene Symbol
  • SRD5A2
Aliases
  • 3-oxo-5-alpha-steroid 4-dehydrogenase 2
Organism
Homo sapiens (human)
NCBI Gene
6716
HGNC
11285
KEGG Gene ID
hsa:6716
PubChem
6716
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Disease variant
  • Lipid metabolism
  • Microsome
  • NADP
  • Oxidoreductase
  • Pseudohermaphroditism
  • Reference proteome
  • Sexual differentiation
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P31213
  • 5 alpha-SR2
  • SR type 2
  • Steroid 5-alpha-reductase 2
  • Type II 5-alpha reductase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
3-oxo-5-alpha-steroid 4-dehydrogenase
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K12344
Name
3-oxo-5-alpha-steroid 4-dehydrogenase 2 [EC:1.3.1.22]
References
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:10283 prostate cancer
DOID:10892 hypospadias
DOID:12700 hyperprolactinemia
DOID:3459 breast carcinoma
DOID:9351 diabetes mellitus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000033 Ambiguous genitalia, male
HP:0000046 Small scrotum
HP:0000048 Bifid scrotum
HP:0000051 Perineal hypospadias
HP:0000054 Micropenis
HP:0000062 Ambiguous genitalia
HP:0000144 Decreased fertility
HP:0000818 Abnormality of the endocrine system
Displaying all 2 entries
Disease ID Disease Name
OMIM:264600
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
ORPHA:753
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002521
Gene Name
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024