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
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]
Gene ontology Molecular function • syntaxin-1 binding • SH3 domain binding Cellular component • integral component of membrane • cell junction • synapse • cell membrane • membrane • synaptic vesicle • vesicle • axon terminus • presynapse • GO:0097483, GO:0097481 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
View/Edit Human View/Edit Mouse

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]

See also

• Paroxysmal kinesogenic choreoathetosis

References

1. GRCh38: Ensembl release 89: ENSG00000167371 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045114 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.
6. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY (November 2011). "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia". Nat Genet. 43 (12): 1252–5. doi:10.1038/ng.1008. PMID 22101681. S2CID 16129198.
7. Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y (February 2012). "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis". J. Med. Genet. 49 (2): 76–8. doi:10.1136/jmedgenet-2011-100635. PMC 3261727. PMID 22131361.
8. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.

External links

• GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia
• OMIM entries on Familial Paroxysmal Kinesigenic Dyskinesia
• NCBI gene

This article incorporates text from the United States National Library of Medicine, which is in the public domain.