CYP11B2
Cytochrome P450 Family 11 Subfamily B Member 2 (Aldosterone Synthase)
Gene Information Card
| Symbol | CYP11B2 |
|---|---|
| Full Name | Cytochrome P450 Family 11 Subfamily B Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 1585 ncbi.nlm.nih.gov/gene/1585 |
| Ensembl ID | ENSG00000179142 |
| UniProt ID | P19099 |
| OMIM ID | 124080 |
| HGNC ID | 2592 |
| Aliases | CYP11B, CYP11B2, P450c11AS, ALDOS, CPN2 |
Description
CYP11B2 encodes aldosterone synthase, a mitochondrial cytochrome P450 enzyme that catalyzes the final steps of aldosterone biosynthesis from deoxycorticosterone. It is primarily expressed in the adrenal cortex zona glomerulosa and is essential for electrolyte balance and blood pressure regulation. Mutations in CYP11B2 cause aldosterone synthase deficiency (corticosterone methyloxidase deficiency) and can lead to familial hyperaldosteronism type I (glucocorticoid-remediable aldosteronism) through gene conversion with CYP11B1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Corticosterone methyloxidase deficiency type I | Loss-of-function mutations impair 18-hydroxylation of corticosterone, reducing aldosterone production | ClinVar, OMIM #124080 |
| Corticosterone methyloxidase deficiency type II | Loss-of-function mutations impair 18-oxidation step, leading to low aldosterone and elevated 18-hydroxycorticosterone | ClinVar, OMIM #124080 |
| Familial hyperaldosteronism type I (glucocorticoid-remediable aldosteronism) | Chimeric gene fusion between CYP11B1 and CYP11B2 results in ectopic aldosterone synthase expression under ACTH control | OMIM #103900 |
| Primary aldosteronism (sporadic) | Somatic gain-of-function mutations (e.g., p.L168R, p.V386A) increase aldosterone synthase activity | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 0.0 | Not detected (GTEx median 0) – but specific to zona glomerulosa |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H295R (adrenocortical carcinoma) | 0.0 | Inducible by angiotensin II; low basal expression |
| NCI-H295R | 0.0 | Used for aldosterone synthesis studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R181W | Missense | Rare | Loss of function; associated with corticosterone methyloxidase deficiency type I |
| p.V386A | Missense | Somatic | Gain of function; increased aldosterone production in aldosterone-producing adenoma |
| p.L168R | Missense | Somatic | Gain of function; constitutive activation of aldosterone synthase |
| c.788T>A | Nonsense | Rare | Loss of function; premature stop codon, causes deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense (e.g., p.R181W) or nonsense mutations that reduce or abolish aldosterone synthase activity, leading to hypoaldosteronism.
Gain of Function (GOF)
Somatic missense mutations (e.g., p.V386A, p.L168R) that increase enzyme activity, causing primary aldosteronism.
Dominant Negative (DN)
Not reported for CYP11B2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adosterone synthesis and secretion (KEGG hsa04925)
• Metabolic pathways (KEGG hsa01100)
• Steroid hormone biosynthesis (KEGG hsa00140)
Protein Summary
Aldosterone synthase (CYP11B2) is a 503-amino acid mitochondrial cytochrome P450 enzyme that catalyzes three sequential reactions: 11β-hydroxylation, 18-hydroxylation, and 18-oxidation of deoxycorticosterone to produce aldosterone. It is expressed exclusively in the adrenal zona glomerulosa and is regulated by angiotensin II and potassium. The protein contains a heme-binding domain and a ferredoxin-binding site essential for electron transfer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP11B2 Knockout HEK293 Cell Line | EDJ-KQ50226 | Human | 1585 | Details Get a Quote |
| CYP11B2 Knockout HeLa Cell Line | EDJ-KQ53059 | Human | 1585 | Details Get a Quote |
| CYP11B2 Knockout A-549 Cell Line | EDJ-KQ61525 | Human | 1585 | Details Get a Quote |
| CYP11B2 Knockout HCT 116 Cell Line | EDJ-KQ70017 | Human | 1585 | Details Get a Quote |
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