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FLASH GENE
Symbol HSD3B2 contributors: - updated : 30-09-2005
HGNC name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HGNC id 5218
Corresponding disease
HSD3B2 adrenal hyperplasia II
Location 1p13.1      Physical location : 119.957.553 - 119.965.660
Synonym symbol(s) HSDB, HSDB3
EC.number 1.1.1.145, 5.3.3.1
DNA
TYPE functioning gene
STRUCTURE 7.00 kb     4 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
MAPPING cloned Y linked Y status confirmed
Map pter - AMY@ - D1S239 - D1S457 - D1S502 - D1S250 - D1S252 - HSD3B1 /HSD3B2 HSD3B2 /D1S514 - D1Z5 - cen
Authors Morissette (95)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland    
Reproductiveovary    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
NAD dependent epimerase/dehydratase domain
HOMOLOGY
intraspecies homolog to HSD3B1
Homologene
FAMILY 3 beta OH dehydrogenase/isomerase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic,microsome
basic FUNCTION
  • bifunctional enzyme, catalyzing the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSD3B2
    related resource Congenital Adrenal Hyperplasia at GeneDis
    Susceptibility to hypospadias
    Variant & Polymorphism other variant associated with hypospadias (rarely)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS