HSD3B2

Gene Information
 
Gene Symbol
HSD3B2
 
Aliases
HSD3B, HSDB, SDR11E2
 
Entrez Gene ID
 
Gene Name
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
 
Chromosomal Location
1p12
 
HGNC ID
 
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)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006694 Biological process Steroid biosynthetic process IDA 1944309
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:0003854 Molecular function 3-beta-hydroxy-delta5-steroid dehydrogenase activity IDA 1944309
Protein Information
 
Protein Name
Steroid Delta-isomerase
 
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
 
UniProt
 
InterPro
Accessions
IPR002225, IPR016040
 
Pfam
Pfam Accession Pfam ID
PF01073 3Beta_HSD 3-beta hydroxysteroid dehydrogenase/isomerase family
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Cancer (prostate cancer) 17823934, 9294620, 19505920, 11912155, 10417059, 10688862, 18479901, 17220347
Polycystic ovary syndrome (PCOS) 10813104
Pseudohermaphroditism 8185809
Virilization 11196452, 10599696, 10843183, 12428206
   
References
 
Primary:

The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.

Carbunaru Goldy, Prasad Pallavi, Scoccia Bert, Shea Patrick, Hopwood Nancy, Ziai Fuad, Chang Ying Tai, Myers Susan E, Mason J Ian, Pang Songya
Department of Pediatrics, Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, Illinois 60612, USA.
J Clin Endocrinol Metab. 2004 Feb;89(2):783-94.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
 
Related 
 
The data show that there is a specific change in the gene expression of 3 beta-HSD in PCO granulosa cells resulting in a suppressed capacity to secrete progesterone. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26357661, PMC4556819
Paracrine Regulation of Steroidogenesis in Theca Cells by Granulosa Cells Derived from Mouse Preantral Follicles. 
Animal study 
23874725, PMC3706324
Differential regulation of human 3??-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. 
In vitro 
23421880, PMC3583798
SET protein up-regulated testosterone production in the cultured preantral follicles. 
In vitro 
22778212
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. 
Effect of treatment 

 

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