MGP Database

MGP001507

Record overview

MGPD IDMGP001507
Gene ID3291
SpeciesHomo sapiens (Human)
Gene Namehydroxysteroid (11-beta) dehydrogenase 2
Gene Symbol HSD11B2
SynonymsAME; AME1; HSD2; HSD11K; SDR9C3;
Alternate namescorticosteroid 11-beta-dehydrogenase isozyme 2; -HSD11 type II; 11-DH2; 11-beta-HSD2; 11-beta-hydroxysteroid dehydrogenase type 2; 11-beta-hydroxysteroid dehydrogenase type II; NAD-dependent 11-beta-hydroxysteroid dehydrogenase; short chain dehydrogenase/reductase family 9C member 3;
Chromosome16
Map Location16q22
EC Number1.1.1.-
SummaryThere 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]
OrthologsView orthologs and multiple alignments for HSD11B2

Proteins

corticosteroid 11-beta-dehydrogenase isozyme 2
Refseq ID:NP_000187
Protein GI:119392083
UniProt ID:P80365
mRNA ID:NM_000196
Length:405
RefSeq Status:
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAK
KLDSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELT
KGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYI
EHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPS
PAVAR
 
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