Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

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

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, ENST00000471656, ENST00000443865, ENST00000448448, ENST00000543831
Protein	ENSP00000388292, ENSP00000358424, , ENSP00000445122

SNPs

SNP	SNP ID	Associated disease	References
G129R		Precocious Pubarche	15585552
P222Q		Precocious Pubarche	15585552
G250V		Precocious Pubarche	25322271
L236S	rs35887327	Premature pubarche	11287026
T259M	rs80358221	Precocious Pubarche	15585552

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:0005737	Cellular component	Cytoplasm	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	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