HSD3B2
Sign in to saveAlso known as HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
In the Vinony graph
Within Vinony's link graph, HSD3B2 is referenced by 54 other articles, and connects out to PubMed, human chromosome 1 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 1.
Its subject is documented across 6 Wikipedia language editions.
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
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Excerpted from Wikipedia’s “HSD3B2” article, available under the CC BY-SA 4.0 licence.