CYP11B2 Chromosome 8
Cytochrome P450 family 11 subfamily B member 2
Upload your DNA to see your personal genotypes for variants in CYP11B2.
What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 11
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000179142
Associated Conditions (12)
Aldosterone to renin ratio
increased
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2-related disorder
Corticosterone methyl oxidase type II deficiency
Early-onset familial hypoaldosteronism
Hypoaldosteronism
congenital
Inborn genetic diseases
Familial hypoaldosteronism
Key Variants
RS1799998
association
Aldosterone to renin ratio, increased, Aldosterone to renin ratio
Health Risk
RS1311444460
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
Health Risk
RS143027239
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
Health Risk
RS144140791
Conflicting classifications of pathogenicity
Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
Health Risk
RS147109119
Conflicting classifications of pathogenicity
Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
Health Risk
RS148205451
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
Health Risk
RS151052374
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
Health Risk
RS1817553996
Conflicting classifications of pathogenicity
Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
Health Risk
RS1817601054
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
Health Risk
RS193166276
Conflicting classifications of pathogenicity
Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
Health Risk
RS199988205
Conflicting classifications of pathogenicity
Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
Health Risk
RS200283987
Conflicting classifications of pathogenicity
Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2488700825 | Health Risk | Pathogenic | — |
| RS2488703183 | Health Risk | Pathogenic | — |
| RS2488703345 | Health Risk | Pathogenic | — |
| RS72554627 | Health Risk | Pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone 18-monooxygenase deficiency |
| RS748967395 | Health Risk | Pathogenic | CYP11B2-related disorder, CYP11B2-related disorder |
| RS752745892 | Health Risk | Pathogenic | — |
| RS752975169 | Health Risk | Pathogenic | — |
| RS759384300 | Health Risk | Pathogenic | — |
| RS759666789 | Health Risk | Pathogenic | — |
| RS760329766 | Health Risk | Pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, CYP11B2-related disorder |
| RS761855534 | Health Risk | Pathogenic | — |
| RS764756525 | Health Risk | Pathogenic | — |
| RS765802331 | Health Risk | Pathogenic | Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency |
| RS765927456 | Health Risk | Pathogenic | — |
| RS768685630 | Health Risk | Pathogenic | — |
| RS771164401 | Health Risk | Pathogenic | Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency |
| RS771908700 | Health Risk | Pathogenic | CYP11B2-related disorder, Corticosterone methyloxidase type 2 deficiency, CYP11B2-related disorder |
| RS774041613 | Health Risk | Pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS775284577 | Health Risk | Pathogenic | — |
| RS878852988 | Health Risk | Pathogenic | — |
| RS1056722915 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS1351295710 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency |
| RS1396377821 | Health Risk | Pathogenic/Likely pathogenic | CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency |
| RS1817612031 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS2488699111 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS539836429 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency |
| RS63748989 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS761385416 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS762727830 | Health Risk | Pathogenic/Likely pathogenic | CYP11B2-related disorder, CYP11B2-related disorder |
| RS765921219 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |
| RS770593140 | Health Risk | Pathogenic/Likely pathogenic | Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency |