InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HSD3B2

Summary

InnateDB Gene

IDBG-101499.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSD3B2

Gene Name

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

Synonyms

HSD3B; HSDB; SDR11E2

Species

Homo sapiens

Ensembl Gene

ENSG00000203859

Encoded Proteins

IDBP-101501

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

IDBP-387918

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

IDBP-590412

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:119414931-119423035

Strand

Forward strand

Band

p12

Transcripts

ENST00000369416	ENSP00000358424
ENST00000433745	ENSP00000388292
ENST00000448448
ENST00000443865
ENST00000471656
ENST00000543831	ENSP00000445122

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0004769	steroid delta-isomerase activity
GO:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0050662	coenzyme binding

Biological Process

GO:0006694	steroid biosynthetic process
GO:0006702	androgen biosynthetic process
GO:0006704	glucocorticoid biosynthetic process
GO:0006705	mineralocorticoid biosynthetic process
GO:0008152	metabolic process
GO:0008202	steroid metabolic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005743	mitochondrial inner membrane
GO:0005758	mitochondrial intermembrane space
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0030868	smooth endoplasmic reticulum membrane
GO:0031966	mitochondrial membrane

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_11036

Glucocorticoid biosynthesis pathway

REACT_11047

Mineralocorticoid biosynthesis pathway

REACT_11059

Androgen biosynthesis pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_11057

Metabolism of steroid hormones and vitamin D pathway

REACT_111217

Metabolism pathway

KEGG

hsa00140

Steroid hormone biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_000198 NM_001166120

HUGO

OMIM

CCDS

CCDS902

HPRD

01941

IMGT

EMBL

GenPept

RNA Seq Atlas