PRRT2

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]

Description

Proline rich transmembrane protein 2

Tissue specificity

Tissue enhanced (ovary)

Subcell location

Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

16 (29811382 - 29815892)

Ensembl ID

ENSG00000167371  (ver. 103.38)

Orthologs

-

UniProt

Q7Z6L0

neXtProt

NX_Q7Z6L0

Human splice variants

Protein structure