CYP11B2
Chr 8ARcytochrome P450 family 11 subfamily B member 2
This enzyme catalyzes the biosynthesis of aldosterone, the primary mineralocorticoid responsible for salt and water homeostasis and blood pressure regulation. Mutations cause autosomal recessive congenital hypoaldosteronism (corticosterone methyl oxidase deficiency types I and II), presenting with salt wasting, dehydration, and failure to thrive in infancy. The gene shows tolerance to loss-of-function variants (LOEUF 1.572), consistent with the recessive inheritance pattern where both alleles must be affected to cause disease.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP11B2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Postmortem Evaluation of Adrenal and Other Endocrine Tumors in Patients With Sudden Death
ACTIVE NOT RECRUITINGPETAL Trial: Impact of Gallium-68 Pentixafor PET-CT on Surgical Outcomes in Primary Aldosteronism
RECRUITINGRegistry Study of Pregnancy and Breast Cancer
ACTIVE NOT RECRUITINGSubtyping Primary Aldosteronism With Para-chloro-2-[18F]Fluoroethyl-etomidate
RECRUITINGA Phase I Trial of QLS1410 in Healthy Chinese Adults and Participants With Mild Essential Hypertension
NOT YET RECRUITINGIs the Evolution of the Aldosterone-renin Ratio Pre- Versus Post-operative on Day 1 Following Unilateral Adrenalectomy for Primary Hyperaldosteronism Predictive of Blood Pressure Outcomes
NOT YET RECRUITINGPathological Type，Gene Mutation and Clinical Characteristics of Unilateral Primary Aldosteronism
RECRUITINGNon Invasive Imaging Methods for Detecting PA：a Clinical PET Study of 18F-Pentixather
RECRUITINGExternal Resources
Links to major genomics databases and tools