HSD3B2

Gene

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

HGNCHGNC:5218 EnsemblENSG00000203859 NCBI Gene3284

Locus: gene with protein productLocation: 1p12

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asSDR11E2

View full nomenclature history (2)

Alias symbolsSDR11E2

Alias namesshort chain dehydrogenase/reductase family 11E, member 2

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Adrenal Hyperplasia, Congenital

Genetic Diseases, Inborn

Leber Congenital Amaurosis

Color Vision Defects

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Short chain dehydrogenase/reductase superfamily

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.