PRRT2, Official Symbol PRRT2provided by HGNC Official Full Name proline rich transmembrane protein 2provided by HGNC Primary source HGNC:HGNC:30500 See related Ensembl:ENSG00000167371 MIM:614386; AllianceGenome:HGNC:30500 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1 Summary This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues See more Orthologs mouse all