11-Beta-Hydroxysteroid Dehydrogenase, Type II

Alternative Names

  • HSD11B2
  • 11-Beta-HSD
  • HSD11, Kidney and Placental Type
  • HSD11k
  • HSD11, Type II
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OMIM Number

614232

NCBI Gene ID

3291

Uniprot ID

P80365

Length

7,753 bases

No. of Exons

7

No. of isoforms

1

Protein Name

11-beta-hydroxysteroid dehydrogenase type 2

Molecular Mass

44127 Da

Amino Acid Count

405

Genomic Location

chr16:67,429,801-67,437,553

Gene Map Locus
16q22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000196.4:c.220_222delinsGGOmanNC_000016.10:g.67431468_67431470delinsGGUncertain SignificancePathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.5336_5338delinsGG; NM_000196.4:c.220_222delinsGG; NP_000187.3:p.Arg74GlyfsTer431567529174623310
NM_000196.4:c.343_348delOmanNC_000016.10:g.67435705_67435710delPathogenic, Uncertain SignificancePathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.9573_9578del; NM_000196.4:c.343_348del; NP_000187.3:p.Glu115_Leu116del79472666912100
NM_000196.4:c.622C>TOmanNC_000016.10:g.67436100C>TLikely PathogenicPathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.9968C>T; NM_000196.4:c.622C>T; NP_000187.3:p.Arg208Cys12191778012093
NM_000196.4:c.662C>TOmanNC_000016.10:g.67436140C>TPathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.10008C>T; NM_000196.4:c.662C>T; NP_000187.3:p.Ala221Val1329450118
NM_000196.4:c.799A>GOmanNC_000016.10:g.67436383A>GPathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.10251A>G; NM_000196.4:c.799A>G; NP_000187.3:p.Thr267Ala
NM_000196.4:c.956_964dupOmanNC_000016.10:g.67436741_67436749dupUncertain SignificancePathogenicApparent Mineralocorticoid ExcessNG_016549.1:g.10609_10617dup; NM_000196.4:c.956_964dup; NP_000187.3:p.Val321_Val322insAlaProVal1567530910623311
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