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FLASH GENE
Symbol SRD5A2 contributors: mct/npt - updated : 01-07-2008
HGNC name steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
HGNC id 11285
Corresponding disease
PPSH pseudovaginal perineoscrotal hypospadias
Location 2p23      Physical location : 31.749.655 - 31.806.040
Synonym name
  • 3-oxo-5 alpha-steroid 4-dehydrogenase 2
  • type II 5-alpha reductase
  • steroid 5-alpha-reductase 2
  • Synonym symbol(s) S5A2, MGC138457
    EC.number 1.3.99.5
    DNA
    TYPE functioning gene
    STRUCTURE 56.00 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - D2S149 - D2S320 - D2S171 - D2S165 - D2S352 /SRD5A2 - D2S367 - D2S19 - D2S177 - D2S391 /CALM2 - cen
    Authors Morissette (96)
    Physical map
    PPP1CB 2p23 protein phosphatase 1, catalytic subunit, beta isoform SPY1 2p23.3 speedy FLJ20628 2p23.3 hypothetical protein FLJ20628 KIAA0007 2p23.3 KIAA0007 protein LOC388938 2 LOC388938 LOC165186 2p23.3 similar to RIKEN cDNA 4632412N22 gene LOC388939 2 similar to BC027072 protein FLJ21069 2p23.3 hypothetical protein FLJ21069 ALK 2p23 anaplastic lymphoma kinase (Ki-1) CGI-127 2p23.3 yippee protein LBH 2p23.3 likely ortholog of mouse limb-bud and heart gene FLJ37965 CAPN13 2p22-p21 likely ortholog of mouse limb-bud and heart gene GALNT14 2p23.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) EHD3 2p21.1 EH-domain containing 3 LOC391361 2 similar to ribosomal protein L21 XDH 2p23-p22.2 xanthine dehydrogenase SRD5A2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) LOC391362 2 similar to human alpha-catenin LOC339736 2p23.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CGI-27 2p23.2 C21orf19-like protein LOC84661 2p23.2 dpy-30-like protein SPG4 2p22-p21 spastic paraplegia 4 (autosomal dominant; spastin) SLC30A6 2p22.3 solute carrier family 30 (zinc transporter), member 6 RH-II/GuBp1 2p22-p21 RH-II/GuB pseudogene 1 CARD12 2p22-p21 caspase recruitment domain family, member 12 MGC11061 2p23.2 hypothetical protein MGC11061 BIRC6 2p22-p21 baculoviral IAP repeat-containing 6 (apollon) FLJ20272 2p23.2-p23.1 hypothetical protein FLJ20272 LOC391363 2 similar to Latent transforming growth factor beta binding protein, isoform 1L precursor (LTBP-1) (Transforming growth factor beta-1 binding protein 1) (TGF-beta1-BP-1) LTBP1 2p22-p21 latent transforming growth factor beta binding protein 1 RASGRP3 2p25.1-p24.1 RAS guanyl releasing protein 3 (calcium and DAG-regulated) DKFZP564F0522 2p23.1 DKFZP564F0522 protein LOC391364 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC151325 2p23.1 similar to hypothetical protein BC013995 LOC344371 2p23.1 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2446 28.4 254 - Torkko (2008)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Reproductivemale systemprostate   
    Respiratoryrespiratory tracttrachea   
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal
    Text developing fetal penis and urethra, skin, scalp
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • at least four putative transmembrane regions
  • HOMOLOGY
    Homologene
    FAMILY
  • steroid 5-alpha reductase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • involved in synthesis of dihydrotestosterone in the urogenital tract
  • playing a central role in sexual differentiation and androgen physiology
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PPSH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in the prostate cancer in progression
    Susceptibility
  • to prostate cancer
  • to hypospadias or micropenis
  • Variant & Polymorphism SNP , other
  • mutation ala-49-thr increase the risk in african american men
  • SNP V89L increases the risk of hypospadias
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS