PRRT2

Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.^[5]

PRRT2
Identifiers
Aliases	PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2
External IDs	OMIM: 614386; MGI: 1916267; HomoloGene: 114328; GeneCards: PRRT2; OMA:PRRT2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 29,811,382 bp[1] End 29,815,892 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 127,017,531 bp[2] End 127,021,211 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum cerebellar vermis right frontal lobe Brodmann area 9 primary visual cortex middle temporal gyrus prefrontal cortex superior frontal gyrus nucleus accumbens cingulate gyrus Top expressed in cerebellar cortex primary visual cortex superior frontal gyrus dentate gyrus of hippocampal formation granule cell hippocampus proper striatum of neuraxis Hypothalamus morula neural layer of retina olfactory bulb More reference expression data BioGPS n/a
Gene ontology Molecular function syntaxin-1 binding SH3 domain binding Cellular component integral component of membrane cell junction synapse plasma membrane membrane synaptic vesicle vesicle axon terminus presynapse postsynaptic density axon synaptic vesicle membrane cytoplasmic vesicle presynaptic membrane cell projection dendritic spine postsynaptic membrane neuron projection glutamatergic synapse integral component of presynaptic membrane Biological process neuromuscular process controlling posture response to biotic stimulus synaptic vesicle fusion to presynaptic active zone membrane negative regulation of SNARE complex assembly negative regulation of short-term synaptic potentiation calcium-dependent activation of synaptic vesicle fusion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 112476 69017 Ensembl ENSG00000167371 ENSMUSG00000045114 UniProt Q7Z6L0 E9PUL5 RefSeq (mRNA) NM_001256442 NM_001256443 NM_145239 NM_001102563 RefSeq (protein) NP_001243371 NP_001243372 NP_660282 NP_001096033 Location (UCSC) Chr 16: 29.81 – 29.82 Mb Chr 7: 127.02 – 127.02 Mb PubMed search [3] [4]
Wikidata
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Structure and tissue distribution

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.^[5]

Clinical significance

Mutations in this gene are associated with a number of movement disorders, most commonly paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in PRRT2.^[6][7] It has also been associated with episodic ataxias, and in particular in combination with various types of epilepsy.^[8] Mutations in PRRT2 lead also to hemiplegic migraine.^[9]

See also

• Paroxysmal kinesogenic choreoathetosis
• Hemiplegic migraine