PRRT2
Sign in to saveAlso known as BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.
Gene data
PRRT2- Name
- proline rich transmembrane protein 2
- Type
- protein-coding
- Aliases
- BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
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].
via MyGene.info
Gene · Ensembl
proline rich transmembrane protein 2
- Symbol
- PRRT2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:29,811,382-29,815,892
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 114328
- exact match
- identifiers.org/ncbigene/112476
- genomic end
- 29827201
- genomic start
- 29823177
- cytogenetic location
- 16p11.2
Sources (7)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Structure and tissue distribution
- Clinical significance
- See also
- References
- External links
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.
== Structure and tissue distribution ==