SRD5A2

The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2),^[5][6] one of three isozymes of 5α-reductase.

AliasesSRD5A2, entrez:6716, steroid 5 alpha-reductase 2

External IDsOMIM: 607306; MGI: 2150380; HomoloGene: 37292; GeneCards: SRD5A2; OMA:SRD5A2 - orthologs

Chr.Chromosome 2 (human)^[1]

End31,580,938 bp^[1]

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SRD5A2
Identifiers
Aliases	SRD5A2, entrez:6716, steroid 5 alpha-reductase 2
External IDs	OMIM: 607306; MGI: 2150380; HomoloGene: 37292; GeneCards: SRD5A2; OMA:SRD5A2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p23.1 Start 31,522,480 bp[1] End 31,580,938 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E2 Start 74,323,950 bp[2] End 74,354,911 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis bronchial epithelial cell right uterine tube liver buccal mucosa cell right lobe of liver caput epididymis prostate seminal vesicula mucosa of paranasal sinus Top expressed in adrenal gland olfactory epithelium lamina propria of prostatic urethra epithelium of lens right kidney lamina propria of vagina proximal tubule embryo lateral lobe of prostate ejaculatory duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors sterol 5-alpha reductase activity cholestenone 5-alpha-reductase activity amide binding oxidoreductase activity 3-oxo-5-alpha-steroid 4-dehydrogenase activity testosterone dehydrogenase [NAD(P) activity] Cellular component cytoplasm organelle membrane integral component of membrane membrane cell body fiber intracellular membrane-bounded organelle soma endoplasmic reticulum endoplasmic reticulum membrane Biological process cell differentiation male gonad development phthalate metabolic process biphenyl metabolic process response to organic cyclic compound lipid metabolism response to testosterone response to steroid hormone cell-cell signaling response to peptide hormone sex differentiation response to organic substance steroid catabolic process response to nutrient levels dibenzo-p-dioxin metabolic process hypothalamus development bone development hippocampus development response to follicle-stimulating hormone androgen metabolic process steroid metabolic process androgen biosynthetic process male genitalia development female genitalia development progesterone metabolic process testosterone biosynthetic process steroid biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6716 94224 Ensembl ENSG00000277893 ENSMUSG00000038541 UniProt P31213 Q99N99 RefSeq (mRNA) NM_000348 NM_053188 RefSeq (protein) NP_000339 NP_444418 Location (UCSC) Chr 2: 31.52 – 31.58 Mb Chr 17: 74.32 – 74.35 Mb PubMed search [3] [4]
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5αR2 catalyzes the conversion of the male sex hormone testosterone into the more potent androgen, dihydrotestosterone.

5αR2 is a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The enzyme is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in 5αR2 activity of the can lead to a condition known as 5α-reductase 2 deficiency, which is a cause of 46,XY DSD that presents as atypical male genitalia.