PRRT2 Back

proline-rich transmembrane protein 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of 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.

Community Annotation of PRRT2 Add / Edit PRRT2: Annotations

No community annotations yet for PRRT2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PRRT2 is highly significantly mutated in
(none)
PRRT2 is significantly mutated in
(none)
PRRT2 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PRRT2