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Name3-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 NameSRD5A2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0016143|3-oxo-5-alpha-steroid 4-dehydrogenase 2
MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPS
FAVPAGILARQPLSLFGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCT
GNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRI
PQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE
DYPKSRKALIPFIF
Number of residues254
Molecular Weight28393.015
Theoretical pI9.62
GO Classification
Functions
  • 3-oxo-5-alpha-steroid 4-dehydrogenase activity
  • cholestenone 5-alpha-reductase activity
  • amide binding
  • sterol 5-alpha reductase activity
Processes
  • male gonad development
  • hypothalamus development
  • male genitalia development
  • response to drug
  • androgen metabolic process
  • cell-cell signaling
  • small molecule metabolic process
  • cell differentiation
  • response to testosterone
  • response to peptide hormone
  • steroid catabolic process
  • steroid metabolic process
  • dibenzo-p-dioxin metabolic process
  • androgen biosynthetic process
  • biphenyl metabolic process
  • response to nutrient levels
  • phthalate metabolic process
  • hippocampus development
  • bone development
  • female genitalia development
  • response to follicle-stimulating hormone
Components
  • endoplasmic reticulum membrane
  • integral component of membrane
  • cell body fiber
  • neuronal cell body
General FunctionSterol 5-alpha reductase activity
Specific FunctionConverts 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
Transmembrane Regions8-28 72-92 146-166 206-226
GenBank Protein ID338469
UniProtKB IDP31213
UniProtKB Entry NameS5A2_HUMAN
Cellular LocationMicrosome 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
GenBank Gene IDM74047
GeneCard IDNot Available
GenAtlas IDSRD5A2
HGNC IDHGNC:11285
Chromosome Location2
Locus2p23
References
  1. 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. 1944596
  2. 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. 1505484
  3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
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  5. 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. 1522235
  6. 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. 7554313
  7. 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. 8626825
  8. 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. 8768837
  9. 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. 9208814
  10. 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. 9843052
  11. 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. 9745434
  12. 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. 10501358
  13. 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. 10718838
  14. Chavez B, Valdez E, Vilchis F: Uniparental disomy in steroid 5alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 2000 Sep;85(9):3147-50. 10999800
  15. 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. 11927504
  16. 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. 12843198
  17. 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. 14560315
  18. 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. 15528927
  19. 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. 16181229
  20. 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. 15770495
  21. 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. 16098368