SRD5A2

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

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) Band 2p23.1 Start 31,522,480 bp End 31,580,938 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17|17 E2 Start 74,323,950 bp End 74,354,911 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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.

See also

• 5α-Reductase

Further reading

• Thigpen AE, Davis DL, Gautier T, et al. (1992). "Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred". N. Engl. J. Med. 327 (17): 1216–9. doi:10.1056/NEJM199210223271706. PMID 1406794.
• Labrie F, Sugimoto Y, Luu-The V, et al. (1992). "Structure of human type II 5 alpha-reductase gene". Endocrinology. 131 (3): 1571–3. doi:10.1210/endo.131.3.1505484. PMID 1505484.
• Andersson S, Berman DM, Jenkins EP, Russell DW (1991). "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism". Nature. 354 (6349): 159–61. Bibcode:1991Natur.354..159A. doi:10.1038/354159a0. PMC 4451825. PMID 1944596.
• Boudon C, Lobaccaro JM, Lumbroso S, et al. (1995). "A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency". Clin. Endocrinol. 43 (2): 183–8. doi:10.1111/j.1365-2265.1995.tb01913.x. PMID 7554313. S2CID 84417489.
• Thigpen AE, Silver RI, Guileyardo JM, et al. (1993). "Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression". J. Clin. Invest. 92 (2): 903–10. doi:10.1172/JCI116665. PMC 294929. PMID 7688765.
• Cai LQ, Zhu YS, Katz MD, et al. (1996). "5 alpha-reductase-2 gene mutations in the Dominican Republic". J. Clin. Endocrinol. Metab. 81 (5): 1730–5. doi:10.1210/jcem.81.5.8626825. PMID 8626825.
• Hochberg Z, Chayen R, Reiss N, et al. (1996). "Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency". J. Clin. Endocrinol. Metab. 81 (8): 2821–7. doi:10.1210/jcem.81.8.8768837. PMID 8768837.
• Vilchis F, Canto P, Chávez B, et al. (1997). "Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme". Am. J. Med. Genet. 69 (1): 69–72. doi:10.1002/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M. PMID 9066886.
• Anwar R, Gilbey SG, New JP, Markham AF (1997). "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)". Mol. Pathol. 50 (1): 51–2. doi:10.1136/mp.50.1.51. PMC 379579. PMID 9208814.
• Can S, Zhu YS, Cai LQ, et al. (1998). "The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred". J. Clin. Endocrinol. Metab. 83 (2): 560–9. doi:10.1210/jcem.83.2.4535. PMID 9467575.
• Nordenskjöld A, Ivarsson SA (1998). "Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family". J. Clin. Endocrinol. Metab. 83 (9): 3236–8. doi:10.1210/jcem.83.9.5125. PMID 9745434.
• Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J (1999). "Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations". Am. J. Med. Genet. 80 (3): 269–72. doi:10.1002/(SICI)1096-8628(19981116)80:3<269::AID-AJMG18>3.0.CO;2-T. PMID 9843052.
• Nnane IP, Kato K, Liu Y, et al. (1999). "Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds". Endocrinology. 140 (6): 2891–7. doi:10.1210/endo.140.6.6832. PMID 10342882.
• Makridakis NM, Ross RK, Pike MC, et al. (1999). "Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA". Lancet. 354 (9183): 975–8. doi:10.1016/S0140-6736(98)11282-5. PMID 10501358. S2CID 23565454.
• Vilchis F, Méndez JP, Canto P, et al. (2000). "Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency". Clin. Endocrinol. 52 (3): 383–7. doi:10.1046/j.1365-2265.2000.00941.x. PMID 10718838. S2CID 25689395.
• Hellwinkel OJ, Müller A, Struve D, Hiort O (2000). "Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription". Eur. J. Endocrinol. 143 (2): 217–25. doi:10.1530/eje.0.1430217. PMID 10913941.
• Chávez B, Valdez E, Vilchis F (2000). "Uniparental disomy in steroid 5alpha-reductase 2 deficiency". J. Clin. Endocrinol. Metab. 85 (9): 3147–50. doi:10.1210/jcem.85.9.6786. PMID 10999800. S2CID 84382616.
• Kim KS, Liu W, Cunha GR, et al. (2002). "Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra". Cell Tissue Res. 307 (2): 145–53. doi:10.1007/s004410100464. PMID 11845321. S2CID 3345015.
• Hiort O, Schütt SM, Bals-Pratsch M, et al. (2002). "A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency". Int. J. Androl. 25 (1): 55–8. doi:10.1046/j.1365-2605.2002.00325.x. PMID 11869378.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.