HSD3B2: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HSD3B2

Aliases

HSD3B, HSDB, SDR11E2

Entrez Gene ID

3284

Gene Name

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Chromosomal Location

1p12

HGNC ID

HGNC:5218

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]

RefSeq DNA

NG_013349.1

RefSeq mRNA

NM_001166120.1, NM_000198.4

e!Ensembl

Gene	ENSG00000203859
Transcript	ENST00000433745, ENST00000369416, ENST00000543831
Protein	ENSP00000388292, ENSP00000358424, ENSP00000445122

Gene Ontology (GO)

Show/Hide all(14 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006694	Biological process	Steroid biosynthetic process	IBA	21873635
GO:0006694	Biological process	Steroid biosynthetic process	IDA	1944309
GO:0008207	Biological process	C21-steroid hormone metabolic process	IBA	21873635
GO:0021766	Biological process	Hippocampus development	IBA	21873635
GO:0051412	Biological process	Response to corticosterone	IBA	21873635
GO:0005783	Cellular component	Endoplasmic reticulum	NAS	1944309
GO:0016021	Cellular component	Integral component of membrane	NAS	1944309
GO:0031966	Cellular component	Mitochondrial membrane	NAS	1944309
GO:0043231	Cellular component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0003854	Molecular function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IBA	21873635
GO:0003854	Molecular function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	1944309
GO:0004769	Molecular function	Steroid delta-isomerase activity	IDA	1944309
GO:0016491	Molecular function	Oxidoreductase activity	IBA	21873635
GO:0016616	Molecular function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	21873635

Protein Information

Protein Name

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-beta-HSD II, 3-beta-HSD adrenal and gonadal type, 3-beta-hydroxy-5-ene steroid dehydrogenase, 3-beta-hydroxy-Delta(5)-steroid dehydrogenase, delta 5-delta 4-isomerase type II, progesterone reductase, short chain dehydrogenase/reductase family 11E, member 2

Function

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids

Refseq Proteins

NP_001159592.1, NP_000189.1

UniProt

P26439

Pfam

Pfam Accession	Pfam ID
PF01073	3Beta_HSD