CYP11B2

Chr 8q24.3

cytochrome P450 family 11 subfamily B member 2

Aliases:: CYP11BL, CPN2, P-450C18, P450aldo, ALDOS
MANE:: ENST00000323110.2

OMIM: 124080 ↗NCBI: 1585 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYP11B2 · P19099

v62025-08-01

Predicted Aligned Error matrix for CYP11B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.8/ 100

Confident

503 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)18%
Low(50–70)1%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Extreme early-onset hypertension
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease
Unexplained kidney failure in young people

Disease associations (Open Targets)

corticosterone methyloxidase type 2 deficiency
0.76
familial hypoaldosteronism
0.56
steroid inherited metabolic disorder
0.50
Cushing syndrome
0.49
early-onset familial hypoaldosteronism
0.44
glucocorticoid-remediable aldosteronism
0.43
adrenal gland hyperfunction
0.37
adrenal gland disorder
0.37
familial hyperreninemic hypoaldosteronism type 2
0.37
hypertensive disorder
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome P450 11B2, mitochondrial

A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the development of heart failure (PubMed:11856349, PubMed:12530636, PubMed:1518866, PubMed:15356073, PubMed:1594605, PubMed:1775135, PubMed:22446688, PubMed:23322723, PubMed:9814482, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone (21-hydroxyprogesterone), namely 11-beta hydroxylation, followed by two successive oxidations at C18 yielding 18-hydroxy and then 18-oxo intermediates (that would not leave the enzyme active site during the consecutive hydroxylation reactions), ending with the formation of aldosterone (PubMed:11856349, PubMed:12530636, PubMed:1518866, PubMed:1594605, PubMed:1775135, PubMed:22446688, PubMed:23322723, PubMed:9814506). Can also produce 18-hydroxycortisol and 18-oxocortisol, derived from successive oxidations of cortisol at C18, normally found at very low levels, but significantly increased in primary aldosteronism, the most common form of secondary hypertension (PubMed:15356073, PubMed:9814482). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:1594605, PubMed:23322723, PubMed:23685396, PubMed:9814506). Besides its role in the biosynthesis of mineralocorticoids and glucocorticoids, it can also participate in the androgen metabolic pathway, converting testosterone (17beta-hydroxy-4-androsten-3-one) to 11beta,17beta-dihydroxyandrost-4-ene-3-one (PubMed:23685396). Can also use progesterone as substrate (PubMed:33189850)