full name
proline rich transmembrane protein 2

synonyms
BFIC2, BFIS2, DSPB3, DYT10, EKD1, ICCA, IFITMD1, PKC, PRRT2, ENSG00000167371

HGNC
HGNC:30500

Entrez Gene
Gene:112476

ENSEMBL
ENSG00000167371

location
chr: 16
start: 29823409
stop: 29827202
strand: +

OMIM
OMIM:614386: PRRT2 (Autosomal dominant inheritance)
OMIM:602066: Convulsions, familial infantile, with paroxysmal choreoathetosis
OMIM:128200: Episodic kinesigenic dyskinesia 1
OMIM:605751: Seizures, benign familial infantile, 2

transcripts
ENST00000567659.1
ENST00000358758.7