InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD11B2

Summary

InnateDB Protein

IDBP-36796.6

Last Modified

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

Gene Symbol

HSD11B2

Protein Name

hydroxysteroid (11-beta) dehydrogenase 2

Synonyms

AME; AME1; HSD11K; HSD2; SDR9C3;

Species

Homo sapiens

Ensembl Protein

ENSP00000316786

InnateDB Gene

IDBG-36794 (HSD11B2)

Protein Structure

UniProt Annotation

Function

Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.

Subcellular Localization

Microsome {ECO:0000269PubMed:17314322}. Endoplasmic reticulum {ECO:0000269PubMed:17314322}.

Disease Associations

Apparent mineralocorticoid excess (AME) [MIM:218030]: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. {ECO:0000269PubMed:12788846, ECO:0000269PubMed:17314322, ECO:0000269PubMed:7593417, ECO:0000269PubMed:7608290, ECO:0000269PubMed:9661590}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon.

Comments

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