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GeneE
29 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CYP11B2
cytochrome P450 family 11 subfamily B member 2
Chromosome 8 Β· 8q24.3
NCBI Gene: 1585Ensembl: ENSG00000179142.3HGNC: HGNC:2592UniProt: P19099
369PubMed Papers
22Diseases
1Drugs
131Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to hormone stimuluscellular response to potassium ionpotassium ion homeostasisregulation of blood volume by renal aldosteronecorticosterone methyloxidase type 2 deficiencyfamilial hypoaldosteronismsteroid inherited metabolic disorderCushing syndrome
✦AI Summary

CYP11B2 encodes aldosterone synthase, a mitochondrial cytochrome P450 monooxygenase that catalyzes the three sequential oxidative reactions converting 11-deoxycorticosterone to aldosterone 12. The enzyme catalyzes 11-beta hydroxylation followed by two successive C18 oxidations to generate 18-hydroxy and 18-oxo intermediates, ultimately producing aldosterone 13. CYP11B2 also produces 18-hydroxycortisol and 18-oxocortisol from cortisol oxidation, which are significantly elevated in primary aldosteronism, the most common form of secondary hypertension 45. The enzyme requires molecular oxygen and electrons provided by NADPH through the mitochondrial transfer system comprising FDXR and FDX1/FDX2 proteins 16. Aldosterone, the primary mineralocorticoid product, regulates salt and water homeostasis, blood pressure, and arterial function 1. CYP11B2 expression is regulated by angiotensin II and potassium levels in the zona glomerulosa, with epigenetic DNA methylation dynamically controlling expression 7. Age-related increases in aldosterone-producing cell clusters and autonomous aldosteronism correlate with cardiovascular risk 8. Mutations in CYP11B2 cause familial hyperaldosteronism type I when creating hybrid ACTH-regulated CYP11B1/CYP11B2 genes 9. Selective CYP11B2 inhibitors represent potential therapeutics for resistant hypertension 10.

Sources cited
1
CYP11B2 catalyzes aldosterone synthesis through sequential oxidative reactions and requires FDXR/FDX electron transfer
PMID: 11856349
2
CYP11B2 catalyzes three sequential oxidative reactions of 11-deoxycorticosterone
PMID: 12530636
3
CYP11B2 generates 18-hydroxy and 18-oxo intermediates in aldosterone synthesis
PMID: 1775135
4
CYP11B2 produces 18-hydroxycortisol and 18-oxocortisol, elevated in primary aldosteronism
PMID: 15356073
5
18-oxocortisol and 18-hydroxycortisol are significantly increased in primary aldosteronism
PMID: 9814482
6
CYP11B2 requires NADPH electron transfer via FDXR and FDX proteins
PMID: 23322723
7
CYP11B2 expression is regulated by angiotensin II and potassium with epigenetic DNA methylation control
PMID: 36982850
8
Age-related autonomous aldosteronism and increased aldosterone-producing cell clusters associate with cardiovascular risk
PMID: 28566337
9
Familial hyperaldosteronism type I is caused by ACTH-regulated hybrid CYP11B1/CYP11B2 genes
PMID: 11595502
10
Selective CYP11B2 inhibitors can suppress aldosterone without affecting cortisol production
PMID: 27872236
Disease Associationsβ“˜22
corticosterone methyloxidase type 2 deficiencyOpen Targets
0.76Strong
familial hypoaldosteronismOpen Targets
0.56Moderate
steroid inherited metabolic disorderOpen Targets
0.50Moderate
Cushing syndromeOpen Targets
0.48Moderate
early-onset familial hypoaldosteronismOpen Targets
0.44Moderate
glucocorticoid-remediable aldosteronismOpen Targets
0.43Moderate
adrenal gland hyperfunctionOpen Targets
0.37Weak
adrenal gland diseaseOpen Targets
0.37Weak
familial hyperreninemic hypoaldosteronism type 2Open Targets
0.37Weak
pituitary-dependent Cushing's diseaseOpen Targets
0.26Weak
hypertensionOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
osteoarthritisOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.16Weak
Increased blood pressureOpen Targets
0.13Weak
essential hypertensionOpen Targets
0.12Weak
cardiovascular diseaseOpen Targets
0.12Weak
response to xenobiotic stimulusOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.10Weak
Corticosterone methyloxidase 1 deficiencyUniProt
Corticosterone methyloxidase 2 deficiencyUniProt
Pathogenic Variants131
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)Pathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 198
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)Pathogenic
Corticosterone methyloxidase type 2 deficiency|not provided|Corticosterone methyl oxidase type II deficiency|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 185
NM_000498.3(CYP11B2):c.240-1G>CPathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2026
NM_000498.3(CYP11B2):c.1398+2T>GPathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)Pathogenic
Corticosterone 18-monooxygenase deficiency|CYP11B2-related disorder|not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 308
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)Pathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 318
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)Pathogenic
not provided|CYP11B2-related disorder|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 102
NM_000498.3(CYP11B2):c.1398+1G>APathogenic
not provided|Corticosterone methyl oxidase type II deficiency|Corticosterone methyloxidase type 2 deficiency;Corticosterone 18-monooxygenase deficiency
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 141
NM_000498.3(CYP11B2):c.1200+1G>APathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.799+1G>APathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.1201-2A>CLikely pathogenic
Aldosterone Synthase Deficiency|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)Pathogenic
Corticosterone methyl oxidase type II deficiency|not provided|CYP11B2-related disorder|Corticosterone methyloxidase type 2 deficiency;Corticosterone 18-monooxygenase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 263
NM_000498.3(CYP11B2):c.1486del (p.Leu496fs)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 496
NM_000498.3(CYP11B2):c.1009C>T (p.Gln337Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)Likely pathogenic
Corticosterone methyloxidase type 2 deficiency|CYP11B2-related disorder|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 498
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 450
NM_000498.3(CYP11B2):c.240delPathogenic
Corticosterone methyl oxidase type II deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_000498.3(CYP11B2):c.726del (p.Ser243fs)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)Pathogenic
CYP11B2-related disorder|not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 260
View on ClinVar β†—
Drug Targets1
LEVOKETOCONAZOLEApproved
Cytochrome P450 11B2 inhibitor
Related Genes
HSD17B3Protein interaction100%ACEProtein interaction99%AKR1C1Protein interaction98%AKR1C3Protein interaction98%SRD5A1Protein interaction98%HSD11B1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Brain
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CYP11B2HSD17B3ACEAKR1C1AKR1C3SRD5A1HSD11B1
PROTEIN STRUCTURE
Preparing viewer…
PDB4DVQ Β· 2.49 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.59–1.01]
RankingsWhere CYP11B2 stands among ~20K protein-coding genes
  • #828of 20,598
    Most Researched369 Β· top 5%
  • #765of 1,025
    FDA-Approved Drug Targets1
  • #591of 5,498
    Most Pathogenic Variants131 Β· top quartile
  • #9,782of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedCYP11B2
Sources retrieved29 papers
Response timeβ€”
πŸ“„ Sources
29β–Ό
1
Preclinical and Early Clinical Profile of a Highly Selective and Potent Oral Inhibitor of Aldosterone Synthase (CYP11B2).
PMID: 27872236
Hypertension Β· 2017
1.00
2
E3 ubiquitin ligase TRIM2 identified as a novel suppressor of CYP11B2 and aldosterone production.
PMID: 39725733
Cell Mol Life Sci Β· 2024
0.96
3
Familial hyperaldosteronism.
PMID: 11595502
J Steroid Biochem Mol Biol Β· 2001
0.90
4
Genetic determinants of hypertension: A meta-analysis of
PMID: 41816957
Clin Exp Hypertens Β· 2026
0.88
5
Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.
PMID: 35779252
J Clin Endocrinol Metab Β· 2022
0.84