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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
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