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
  • amide binding
  • sterol 5-alpha reductase activity
  • 3-oxo-5-alpha-steroid 4-dehydrogenase activity
  • cholestenone 5-alpha-reductase activity
Processes
  • 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
  • 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
Components
  • neuronal cell body
  • endoplasmic reticulum membrane
  • integral component of membrane
  • cell body fiber
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
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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
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  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
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