PRRT2, proline rich transmembrane protein 2

PRRT2, proline rich transmembrane protein 2

• 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]

• Gene Synonyms (BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline-rich transmembrane protein 2, dispanin subfamily B member 3, dystonia 10, infantile convulsions and paroxysmal choreoathetosis, interferon induced transmembrane protein domain containing 1,)
• NCBI Gene ID: 112476
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q7Z6L0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

proline rich transmembrane protein 2 interacts with:

• DNA damage inducible 1 homolog 1
  lysocardiolipin acyltransferase 1
  small integral membrane protein 5
  solute carrier family 10 member 6
  TLC domain containing 4

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.