HSD11B2 Chromosome 16
Hydroxysteroid 11-beta dehydrogenase 2
Upload your DNA to see your personal genotypes for variants in HSD11B2.
What This Gene Does
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. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000176387
Associated Conditions (4)
Apparent mineralocorticoid excess
HSD11B2-related disorder
Inborn genetic diseases
mild
Key Variants
RS121917833
Conflicting classifications of pathogenicity
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
Health Risk
RS1555518481
Conflicting classifications of pathogenicity
Apparent mineralocorticoid excess, HSD11B2-related disorder, Apparent mineralocorticoid excess
Health Risk
RS45619232
Conflicting classifications of pathogenicity
Inborn genetic diseases, Apparent mineralocorticoid excess, Inborn genetic diseases
Health Risk
RS765574993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS794726669
Conflicting classifications of pathogenicity
Apparent mineralocorticoid excess, mild, Apparent mineralocorticoid excess
Health Risk
RS1453036708
Likely pathogenic
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
Health Risk
RS768507002
Likely pathogenic
Health Risk
RS121917780
Pathogenic
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
Health Risk
RS121917781
Pathogenic
Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
Health Risk
RS121917782
Pathogenic
Apparent mineralocorticoid excess, mild, Apparent mineralocorticoid excess
Health Risk
RS1472555983
Pathogenic
Health Risk
RS2040931363
Pathogenic
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121917833 | Health Risk | Conflicting classifications of pathogenicity | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS1555518481 | Health Risk | Conflicting classifications of pathogenicity | Apparent mineralocorticoid excess, HSD11B2-related disorder, Apparent mineralocorticoid excess |
| RS45619232 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Apparent mineralocorticoid excess, Inborn genetic diseases |
| RS765574993 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS794726669 | Health Risk | Conflicting classifications of pathogenicity | Apparent mineralocorticoid excess, mild, Apparent mineralocorticoid excess |
| RS1453036708 | Health Risk | Likely pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS768507002 | Health Risk | Likely pathogenic | — |
| RS121917780 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS121917781 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS121917782 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, mild, Apparent mineralocorticoid excess |
| RS1472555983 | Health Risk | Pathogenic | — |
| RS2040931363 | Health Risk | Pathogenic | — |
| RS2040932336 | Health Risk | Pathogenic | — |
| RS2040979235 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934591 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934594 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS387907117 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS794726684 | Health Risk | Pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS28934592 | Health Risk | Pathogenic/Likely pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |
| RS397509434 | Health Risk | Pathogenic/Likely pathogenic | Apparent mineralocorticoid excess, Apparent mineralocorticoid excess |