InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HSD11B2

Summary

InnateDB Gene

IDBG-36794.6

Last Modified

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

Gene Symbol

HSD11B2

Gene Name

hydroxysteroid (11-beta) dehydrogenase 2

Synonyms

AME; AME1; HSD11K; HSD2; SDR9C3

Species

Homo sapiens

Ensembl Gene

ENSG00000176387

Encoded Proteins

IDBP-36796

hydroxysteroid (11-beta) dehydrogenase 2

IDBP-809834

hydroxysteroid (11-beta) dehydrogenase 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:67430652-67437553

Strand

Forward strand

Band

q22.1

Transcripts

ENST00000326152	ENSP00000316786
ENST00000566606	ENSP00000473429
ENST00000567684
ENST00000569303

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0005496	steroid binding
GO:0016491	oxidoreductase activity
GO:0051287	NAD binding

Biological Process

GO:0001666	response to hypoxia
GO:0002017	regulation of blood volume by renal aldosterone
GO:0006704	glucocorticoid biosynthetic process
GO:0007565	female pregnancy
GO:0008152	metabolic process
GO:0008211	glucocorticoid metabolic process
GO:0032094	response to food
GO:0032868	response to insulin
GO:0042493	response to drug
GO:0048545	response to steroid hormone
GO:0051384	response to glucocorticoid
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0043231	intracellular membrane-bounded organelle

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031891

View Gene Order

ENSBTAG00000005685

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa00140

Steroid hormone biosynthesis pathway

hsa04960

Aldosterone-regulated sodium reabsorption pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.1376

RefSeq

NM_000196

HUGO

OMIM

CCDS

CCDS10837

HPRD

01958

IMGT

EMBL

GenPept

RNA Seq Atlas