HSD3B2

Chr 1p12

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Aliases:: SDR11E2
MANE:: ENST00000369416.4

OMIM: 613890 ↗NCBI: 3284 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HSD3B2 · P26439

v62025-08-01

Predicted Aligned Error matrix for HSD3B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.4/ 100

Very high

372 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)13%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Congenital adrenal hypoplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
0.82
congenital adrenal hyperplasia
0.54
adrenal gland disorder
0.37
hereditary disease
0.19
ependymoma
0.11
Cone rod dystrophy
0.08
prostate cancer
0.08
retinitis pigmentosa
0.08
Leber congenital amaurosis
0.08
achromatopsia
0.08

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

Protein function (UniProt)

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids