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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)
    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