Protein-coding gene in the species Homo sapiens
SRD5A2 |
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Identifiers |
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Aliases | SRD5A2, entrez:6716, steroid 5 alpha-reductase 2 |
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External IDs | OMIM: 607306; MGI: 2150380; HomoloGene: 37292; GeneCards: SRD5A2; OMA:SRD5A2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 2 (human)[1] |
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| Band | 2p23.1 | Start | 31,522,480 bp[1] |
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End | 31,580,938 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 17 (mouse)[2] |
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| Band | 17|17 E2 | Start | 74,323,950 bp[2] |
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End | 74,354,911 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - corpus epididymis
- bronchial epithelial cell
- right uterine tube
- liver
- right lobe of liver
- caput epididymis
- prostate
- seminal vesicula
- urethra
- vagina
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| Top expressed in | - adrenal gland
- olfactory epithelium
- proximal tubule
- ejaculatory duct
- female urethra
- seminal vesicula
- kidney
- left colon
- secondary oocyte
- left lobe of liver
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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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
- neuronal cell body
- 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 2: 31.52 – 31.58 Mb | Chr 17: 74.32 – 74.35 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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.
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
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000277893 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038541 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW (Oct 1992). "Molecular genetics of steroid 5 alpha-reductase 2 deficiency". J Clin Invest. 90 (3): 799–809. doi:10.1172/JCI115954. PMC 329933. PMID 1522235.
- ^ "SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 31 August 2021.
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, 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.
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