The HSD3B2 gene homepage

General information
Gene symbol HSD3B2
Gene name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Chromosome 1
Chromosomal band p12
Imprinted -
Genomic reference NG_008157.1
Transcript reference NM_000197.1
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 88
Unique public DNA variants reported 58
Individuals with public variants 0
Hidden variants -
Notes 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]
Also known as: HSDB; HSD3B; SDR11E2
Date created April 20, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/HSD3B2
HGNC 5218
Entrez Gene 3284
PubMed articles HSD3B2
OMIM - Gene 613890
OMIM - Diseases WD (wilson disease)
HGMD HSD3B2
GeneCards HSD3B2
GeneTests HSD3B2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000061 1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 NM_000197.1 - 88


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