Entity Details

Primary name HSD11B2
Entity type gene
Source Source Link

Details

PrimaryID3291
RefseqGeneNG_016549
SymbolHSD11B2
Namehydroxysteroid 11-beta dehydrogenase 2
Chromosome16
Location16q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-09-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDHI2_HUMAN

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0002017 regulation of blood volume by renal aldosterone
GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0005496 steroid binding
GO:0005654 nucleoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid droplet
GO:0006704 glucocorticoid biosynthetic process
GO:0007565 female pregnancy
GO:0032094 response to food
GO:0032868 response to insulin
GO:0042493 response to drug
GO:0051287 NAD binding
GO:0051384 response to glucocorticoid

Diseases

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Disease IDSourceNameDescription
218030 OMIMApparent mineralocorticoid excess (AME)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions