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UBE3A

Gene

ubiquitin protein ligase E3A

HGNCHGNC:12496EnsemblENSG00000114062NCBI Gene7337
Locus: gene with protein productLocation: 15q11.2

Also known as

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

Also known asEPVE6AP · HPVE6A · AS · ANCR · E6-AP · FLJ26981
View full nomenclature history (8)
Previous symbolsEPVE6AP, HPVE6A
Alias symbolsAS, ANCR, E6-AP, FLJ26981
Previous nameshuman papilloma virus E6-associated protein
Alias namesAngelman syndrome

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.

Angelman Syndrome
Genetic Diseases, Inborn
Neurodevelopmental Disorders

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.

HECT domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.