HSD3B2
Sign in to saveAlso known as HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
gene umano
Gene data
HSD3B2- Name
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
- Type
- protein-coding
- Position
- 119,413,725–119,453,802 (+)
- Aliases
- HSD3B, HSDB, SDR11E2
- Ensembl
- ENSG00000203859
- RefSeq RNA
- NM_000198.4, NM_001166120.2
- RefSeq protein
- NP_000189.1, NP_001159592.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
- Symbol
- HSD3B2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:119,413,725-119,453,802
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 69149
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3284
- genomic end
- 119965658
- genomic start
- 119957554
- chromosome
- human chromosome 1
- cytogenetic location
- 1p12
- expressed in
- right coronary artery
Sources (4)
via Wikidata · CC0