CYP11B2 Chromosome 8

Cytochrome P450 family 11 subfamily B member 2
131 variants 131 Health Risk

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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
RS1799998 Health Risk association Aldosterone to renin ratio, increased, Aldosterone to renin ratio
RS1311444460 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS143027239 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS144140791 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS147109119 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS148205451 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS151052374 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS1817553996 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS1817601054 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS193166276 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS199988205 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS200283987 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS200559721 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS28931609 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Early-onset familial hypoaldosteronism, Corticosterone 18-monooxygenase deficiency
RS369953763 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Hypoaldosteronism, congenital
RS372556807 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS373369254 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS375242946 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS375938097 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS4547 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS544454389 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Inborn genetic diseases, Corticosterone 18-monooxygenase deficiency
RS559136479 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS562670189 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS563246146 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS577489337 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS745626507 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS746708275 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS747248100 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS750860338 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752962897 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone 18-monooxygenase deficiency
RS758281815 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS760339298 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS761292212 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS763197267 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS764640232 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS767044154 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS769090647 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS774989997 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS777780952 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS779011569 Health Risk Conflicting classifications of pathogenicity CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS779683417 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism, Corticosterone methyloxidase type 2 deficiency
RS1258317232 Health Risk Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS1427477002 Health Risk Likely pathogenic —
RS2130329063 Health Risk Likely pathogenic —
RS2130330223 Health Risk Likely pathogenic —
RS2130334875 Health Risk Likely pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS2488698197 Health Risk Likely pathogenic —
RS2488698556 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS2488699866 Health Risk Likely pathogenic —
RS2488700694 Health Risk Likely pathogenic —
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