PRRT2

Gene

proline rich transmembrane protein 2

HGNCHGNC:30500 EnsemblENSG00000167371 NCBI Gene112476

Locus: gene with protein productLocation: 16p11.2

Also known as

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

Also known asICCA · DYT10 · FLJ25513 · DKFZp547J199 · IFITMD1 · FICCA · DSPB3 · PKC · EKD1

View full nomenclature history (16)

Previous symbolsICCA, DYT10

Alias symbolsFLJ25513, DKFZp547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1

Previous namesinfantile convulsions and paroxysmal choreoathetosis, dystonia 10, proline-rich transmembrane protein 2

Alias namesinterferon induced transmembrane protein domain containing 1, dispanin subfamily B member 3, Episodic kinesigenic dyskinesia 1, Paroxysmal kinesigenic dyskinesia

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.

Benign familial infantile epilepsy

Genetic Diseases, Inborn

Neurodegenerative Diseases

Autosomal recessive non-syndromic intellectual disability

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.

Dispanins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-06-07.

Open TargetsGene–disease associations from the Open Targets Platform.