3-oxo-5-alpha-steroid 4-dehydrogenase 2
Details
- Name
- 3-oxo-5-alpha-steroid 4-dehydrogenase 2
- Synonyms
- 1.3.1.22
- 5 alpha-SR2
- S5AR 2
- SR type 2
- Steroid 5-alpha-reductase 2
- Type II 5-alpha reductase
- Gene Name
- SRD5A2
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0016143|3-oxo-5-alpha-steroid 4-dehydrogenase 2 MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPS FAVPAGILARQPLSLFGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCT GNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRI PQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE DYPKSRKALIPFIF
- Number of residues
- 254
- Molecular Weight
- 28393.015
- Theoretical pI
- 9.62
- GO Classification
- Functions3-oxo-5-alpha-steroid 4-dehydrogenase activity / amide binding / cholestenone 5-alpha-reductase activity / sterol 5-alpha reductase activityProcessesandrogen biosynthetic process / androgen metabolic process / biphenyl metabolic process / bone development / cell differentiation / cell-cell signaling / dibenzo-p-dioxin metabolic process / female genitalia development / hippocampus development / hypothalamus development / male genitalia development / male gonad development / phthalate metabolic process / response to drug / response to follicle-stimulating hormone / response to nutrient levels / response to peptide hormone / response to testosterone / small molecule metabolic process / steroid catabolic process / steroid metabolic processComponentscell body fiber / endoplasmic reticulum membrane / integral component of membrane / neuronal cell body
- General Function
- Sterol 5-alpha reductase activity
- Specific Function
- Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.
- Pfam Domain Function
- Steroid_dh (PF02544)
- Transmembrane Regions
- 8-28 72-92 146-166 206-226
- Cellular Location
- Microsome membrane
- Gene sequence
>lcl|BSEQ0016144|3-oxo-5-alpha-steroid 4-dehydrogenase 2 (SRD5A2) ATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAGCGCCACTTTGGTCGCCCTT GGGGCACTGGCCTTGTACGTCGCGAAGCCCTCCGGCTACGGGAAGCACACGGAGAGCCTG AAGCCGGCGGCTACCCGCCTGCCAGCCCGCGCCGCCTGGTTCCTGCAGGAGCTGCCTTCC TTCGCGGTGCCCGCGGGGATCCTCGCCCGGCAGCCCCTCTCCCTCTTCGGGCCACCTGGG ACGGTACTTCTGGGCCTCTTCTGCCTACATTACTTCCACAGGACATTTGTGTACTCACTG CTCAATCGAGGGAGGCCTTATCCAGCTATACTCATTCTCAGAGGCACTGCCTTCTGCACT GGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATACCCTGATGGGTGG TACACAGACATACGGTTTAGCTTGGGTGTCTTCTTATTTATTTTGGGAATGGGAATAAAC ATTCATAGTGACTATATATTGCGCCAGCTCAGGAAGCCTGGAGAAATCAGCTACAGGATT CCACAAGGTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAA TGGATCGGCTATGCCCTGGCCACTTGGTCCCTCCCAGCACTTGCATTTGCATTTTTCTCA CTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTTCTACCTCAAGATGTTTGAG GACTACCCCAAATCTCGGAAAGCCCTTATTCCATTCATCTTTTAA
- Chromosome Location
- 2
- Locus
- 2p23
- External Identifiers
Resource Link UniProtKB ID P31213 UniProtKB Entry Name S5A2_HUMAN GenBank Protein ID 338469 GenBank Gene ID M74047 GenAtlas ID SRD5A2 HGNC ID HGNC:11285 - General References
- Andersson S, Berman DM, Jenkins EP, Russell DW: Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature. 1991 Nov 14;354(6349):159-61. [Article]
- Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bachvarov D, Leblanc G, Durocher F, Paquet N: Structure of human type II 5 alpha-reductase gene. Endocrinology. 1992 Sep;131(3):1571-3. [Article]
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- Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW: Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest. 1992 Sep;90(3):799-809. [Article]
- Boudon C, Lobaccaro JM, Lumbroso S, Ogur G, Ocal G, Belon C, Sultan C: A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. Clin Endocrinol (Oxf). 1995 Aug;43(2):183-8. [Article]
- Cai LQ, Zhu YS, Katz MD, Herrera C, Baez J, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J: 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996 May;81(5):1730-5. [Article]
- Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, Farkas A, Goldfarb H, Ohana N, Hiort O: Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 1996 Aug;81(8):2821-7. [Article]
- Anwar R, Gilbey SG, New JP, Markham AF: Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). Mol Pathol. 1997 Feb;50(1):51-2. [Article]
- Nordenskjold A, Magnus O, Aagenaes O, Knudtzon J: Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. Am J Med Genet. 1998 Nov 16;80(3):269-72. [Article]
- Nordenskjold A, Ivarsson SA: Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab. 1998 Sep;83(9):3236-8. [Article]
- Makridakis NM, Ross RK, Pike MC, Crocitto LE, Kolonel LN, Pearce CL, Henderson BE, Reichardt JK: Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet. 1999 Sep 18;354(9183):975-8. [Article]
- Vilchis F, Mendez JP, Canto P, Lieberman E, Chavez B: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. Clin Endocrinol (Oxf). 2000 Mar;52(3):383-7. [Article]
- Chavez B, Valdez E, Vilchis F: Uniparental disomy in steroid 5alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 2000 Sep;85(9):3147-50. [Article]
- Pearce CL, Makridakis NM, Ross RK, Pike MC, Kolonel LN, Henderson BE, Reichardt JK: Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study. Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):417-8. [Article]
- Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K, Takahashi T, Hasegawa T, Matsuo N: Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. J Clin Endocrinol Metab. 2003 Jul;88(7):3431-6. [Article]
- Loukola A, Chadha M, Penn SG, Rank D, Conti DV, Thompson D, Cicek M, Love B, Bivolarevic V, Yang Q, Jiang Y, Hanzel DK, Dains K, Paris PL, Casey G, Witte JS: Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2. Eur J Hum Genet. 2004 Apr;12(4):321-32. [Article]
- Fernandez-Cancio M, Rodo J, Andaluz P, Martinez de Osaba MJ, Rodriguez-Hierro F, Esteban C, Carrascosa A, Audi L: Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. Horm Res. 2004;62(5):259-64. Epub 2004 Nov 2. [Article]
- Nicoletti A, Baldazzi L, Balsamo A, Barp L, Pirazzoli P, Gennari M, Radetti G, Cacciari E, Cicognani A: SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Clin Endocrinol (Oxf). 2005 Oct;63(4):375-80. [Article]
- Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, Stuchi-Perez EG, Guerra-Junior G: New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. J Mol Med (Berl). 2005 Jul;83(7):569-76. Epub 2005 Mar 16. [Article]
- Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D: A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Urology. 2005 Aug;66(2):407-10. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB00548 Azelaic acid approved yes inhibitor Details DB01126 Dutasteride approved, investigational yes inhibitor Details DB01216 Finasteride approved yes inhibitor Details DB00741 Hydrocortisone approved, vet_approved unknown substrate Details DB13943 Testosterone cypionate approved no substrate Details DB13944 Testosterone enanthate approved no substrate Details DB01420 Testosterone propionate approved, investigational, vet_approved, withdrawn no substrate Details DB13946 Testosterone undecanoate approved, investigational no substrate Details DB00717 Norethisterone approved unknown substrate Details