HSD11B2

Chr 16q22.1

hydroxysteroid 11-beta dehydrogenase 2

Aliases:: SDR9C3
MANE:: ENST00000326152.6

OMIM: 614232 ↗NCBI: 3291 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HSD11B2 · P80365

v62025-08-01

Predicted Aligned Error matrix for HSD11B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.4/ 100

Confident

405 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)30%
Low(50–70)3%
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)

Extreme early-onset hypertension
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

apparent mineralocorticoid excess
0.83
Peptic ulcer
0.50
gastroesophageal reflux disease
0.50
hereditary disease
0.19
chronic kidney disease
0.08
Anxiety
0.08
familial idiopathic steroid-resistant nephrotic syndrome
0.06
nephronophthisis
0.06
Bartter syndrome
0.06
primary Fanconi syndrome
0.06

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

Protein function (UniProt)

11-beta-hydroxysteroid dehydrogenase type 2

Catalyzes the conversion of biologically active 11beta-hydroxyglucocorticoids (11beta-hydroxysteroid) such as cortisol, to inactive 11-ketoglucocorticoids (11-oxosteroid) such as cortisone, in the presence of NAD(+) (PubMed:10497248, PubMed:12788846, PubMed:17314322, PubMed:22796344, PubMed:23685396, PubMed:27927697, PubMed:30902677, PubMed:33387577, PubMed:7859916, PubMed:8538347). Functions as a dehydrogenase (oxidase), thereby decreasing the concentration of active glucocorticoids, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids (PubMed:10497248, PubMed:12788846, PubMed:17314322, PubMed:33387577, PubMed:7859916). Plays an important role in maintaining glucocorticoids balance during preimplantation and protects the fetus from excessive maternal corticosterone exposure (By similarity). Catalyzes the oxidation of 11beta-hydroxytestosterone (11beta,17beta-dihydroxyandrost-4-ene-3-one) to 11-ketotestosterone (17beta-hydroxyandrost-4-ene-3,11-dione), a major bioactive androgen (PubMed:22796344, PubMed:27927697). Catalyzes the conversion of 11beta-hydroxyandrostenedione (11beta-hydroxyandrost-4-ene-3,17-dione) to 11-ketoandrostenedione (androst-4-ene-3,11,17-trione), which can be further metabolized to 11-ketotestosterone (PubMed:23685396, PubMed:27927697). Converts 7-beta-25-dihydroxycholesterol to 7-oxo-25-hydroxycholesterol in vitro (PubMed:30902677). 7-beta-25-dihydroxycholesterol (not 7-oxo-25-hydroxycholesterol) acts as a ligand for the G protein-coupled receptor (GPCR) Epstein-Barr virus-induced gene 2 (EBI2) and may thereby regulate immune cell migration (PubMed:30902677). May protect ovulating oocytes and fertilizing spermatozoa from the adverse effects of cortisol (By similarity). Catalyzes the conversion of 7-beta-hydroxycholesterol into 7-ketocholesterol (7-oxocholesterol), a precursor of 7-keto,27-hydroxycholesterol, which activates smoothened (SMO) and the smoothened signaling pathway (By similarity)