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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)
Physical map
LOC391072 1 similar to protease (prosome, macropain) 26S subunit, ATPase 1 LOC343492 1p12 similar to Vigilin (High density lipoprotein-binding protein) (HDL-binding protein) TBX15 1p13 T-box 15 WARS2 1p13.3-p13.1 tryptophanyl tRNA synthetase 2 (mitochondrial) LOC343495 1p11.2 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) HAO2 1p13.3-p13.2 hydroxyacid oxidase 2 (long chain) HSD3B2 1p13.1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 LOC391073 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC391074 1 similar to 3 BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA 5-->4-ISOMERASE (3BETA-HSD) LOC391075 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC391076 1 similar to 3 BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA 5-->4-ISOMERASE (3BETA-HSD) LOC391077 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) HSD3B1 1p13.1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 LOC391078 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC391079 1 similar to 3 BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA 5-->4-ISOMERASE (3BETA-HSD) LOC128102 1p11.2 3-beta-hydroxysteroid dehydrogenase, tissue-type heart LOC391080 1 similar to glyceraldehyde 3-phosphate dehydrogenase LOC391081 1 similar to 3 BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA 5-->4-ISOMERASE (3BETA-HSD) MGC45731 1p11.2 hypothetical protein MGC45731 PHGDH 1p12 phosphoglycerate dehydrogenase HMGCS2 1p12 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) REG4 1q12-q21 regenerating islet-derived family, member 4 LOC343505 1p11.2 similar to dJ1182A14.5.1 (novel gene (isoform 1)) LOC391082 1 similar to Profilin I ADAM30 1p12-p11 a disintegrin and metalloproteinase domain 30 NOTCH2 1p12-p11 Notch homolog 2 (Drosophila)
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