HSD3B2

GENE INFORMATION

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Gene name

HSD3B2 (HGNC Symbol)

Synonyms

SDR11E2

Description

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

p12

Chromosome location (bp)

119414931 - 119423035

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000203859 (version 78.38)

Entrez gene

3284

UniProt

P26439 (UniProt - Evidence at protein level)

neXtProt

NX_P26439

Antibodypedia

HSD3B2 antibodies
 

PROTEIN VIEW

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HSD3B2-001
 
HSD3B2-002
 
HSD3B2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HSD3B2-001 ENSP00000358424
ENST00000369416
P26439
Show all »
Show » Show » 372 42.1 No 1
HSD3B2-002 ENSP00000388292
ENST00000433745
Q5QP01
Show all »
Show » Show » 195 21.7 No 0
HSD3B2-201 ENSP00000445122
ENST00000543831
P26439
Show all »
Show » Show » 372 42.1 No 1