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MGP001507

UniProt Annotations

Entry Information
Gene Namehydroxysteroid (11-beta) dehydrogenase 2
Protein EntryDHI2_HUMAN
UniProt IDP80365
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=26.1 nM for cortisol {ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322}; KM=785 nM for cortisol {ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322}; KM=77 nM for cortisterone {ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322}; Vmax=64.1 nmol/h/mg enzyme toward cortisterone {ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322}; Vmax=66 nmol/h/mg enzyme toward cortisol {ECO:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322};
Catalytic ActivityAn 11-beta-hydroxysteroid + NAD(+) = an 11- oxosteroid + NADH.
DiseaseApparent 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:0000269|PubMed:12788846, ECO:0000269|PubMed:17314322, ECO:0000269|PubMed:7593417, ECO:0000269|PubMed:7608290, ECO:0000269|PubMed:9661590}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and 11-alpha-OH-progesterone. {ECO:0000250}.
FunctionCatalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.
MiscellaneousConsumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and hypertension.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.
Subcellular LocationMicrosome {ECO:0000269|PubMed:17314322}. Endoplasmic reticulum {ECO:0000269|PubMed:17314322}.
SubunitInteracts with ligand-free cytoplasmic NR3C2. {ECO:0000269|PubMed:11350956}.
Tissue SpecificityFound in placenta, kidney, pancreas, prostate, ovary, small intestine and colon.
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