ABCA2

Gene

ATP binding cassette subfamily A member 2

HGNCHGNC:32 EnsemblENSG00000107331 NCBI Gene20

Locus: gene with protein productLocation: 9q34.3

Also known as

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

Also known asABC2

View full nomenclature history (2)

Previous symbolsABC2

Previous namesATP-binding cassette, sub-family A (ABC1), 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.

Autosomal recessive non-syndromic intellectual disability

Cutaneous mastocytosis

Mastocytosis

Alzheimer's Disease

Dermatitis

Genetic developmental and epileptic encephalopathy

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.

ATP binding cassette subfamily A

Provenance

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

Open TargetsGene–disease associations from the Open Targets Platform.