# PRRT2

> Mediated Wiki article. Canonical URL: https://mediated.wiki/source/PRRT2
> Markdown URL: https://mediated.wiki/source/PRRT2.md
> Source: https://en.wikipedia.org/wiki/PRRT2
> Source revision: 1300695762
> License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/)

Protein-coding gene in humans

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 View/Edit Human View/Edit Mouse

**Proline-rich transmembrane protein 2** is a [protein](/source/Protein) that in humans is encoded by the *PRRT2* [gene](/source/Gene).[5]

## Structure and tissue distribution

This gene encodes a [transmembrane protein](/source/Transmembrane_protein) containing a [proline](/source/Proline)-rich domain in its [N-terminal](/source/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](/source/Paroxysmal_kinesogenic_choreoathetosis) where approximately 1/3 of cases will harbor mutations in *PRRT2*.[6][7] It has also been associated with episodic [ataxias](/source/Ataxia), 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](/source/Paroxysmal_kinesogenic_choreoathetosis)

- [Hemiplegic migraine](/source/Familial_hemiplegic_migraine)

## References

1. ^ [***a***](#cite_ref-refGRCh38Ensembl_1-0) [***b***](#cite_ref-refGRCh38Ensembl_1-1) [***c***](#cite_ref-refGRCh38Ensembl_1-2) [GRCh38: Ensembl release 89: ENSG00000167371](http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000167371) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. ^ [***a***](#cite_ref-refGRCm38Ensembl_2-0) [***b***](#cite_ref-refGRCm38Ensembl_2-1) [***c***](#cite_ref-refGRCm38Ensembl_2-2) [GRCm38: Ensembl release 89: ENSMUSG00000045114](http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000045114) – [Ensembl](/source/Ensembl_genome_database_project), May 2017

1. **[^](#cite_ref-3)** ["Human PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=112476). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. **[^](#cite_ref-4)** ["Mouse PubMed Reference:"](https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=69017). *National Center for Biotechnology Information, U.S. National Library of Medicine*.

1. ^ [***a***](#cite_ref-entrez_5-0) [***b***](#cite_ref-entrez_5-1) ["Entrez Gene: Proline-rich transmembrane protein 2"](https://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=retrieve&list_uids=112476). Retrieved 2011-11-26.

1. **[^](#cite_ref-pmid22101681_6-0)** 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](/source/Doi_(identifier)):[10.1038/ng.1008](https://doi.org/10.1038%2Fng.1008). [PMID](/source/PMID_(identifier)) [22101681](https://pubmed.ncbi.nlm.nih.gov/22101681). [S2CID](/source/S2CID_(identifier)) [16129198](https://api.semanticscholar.org/CorpusID:16129198).

1. **[^](#cite_ref-pmid22131361_7-0)** 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"](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261727). *J. Med. Genet*. **49** (2): 76–8. [doi](/source/Doi_(identifier)):[10.1136/jmedgenet-2011-100635](https://doi.org/10.1136%2Fjmedgenet-2011-100635). [PMC](/source/PMC_(identifier)) [3261727](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261727). [PMID](/source/PMID_(identifier)) [22131361](https://pubmed.ncbi.nlm.nih.gov/22131361).

1. **[^](#cite_ref-Papandreou_8-0)** Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). ["The expanding spectrum of movement disorders in genetic epilepsies"](https://discovery.ucl.ac.uk/id/eprint/10088482/). *Developmental Medicine and Child Neurology*. **62** (2): 178–191. [doi](/source/Doi_(identifier)):[10.1111/dmcn.14407](https://doi.org/10.1111%2Fdmcn.14407). [PMID](/source/PMID_(identifier)) [31784983](https://pubmed.ncbi.nlm.nih.gov/31784983). [S2CID](/source/S2CID_(identifier)) [208498567](https://api.semanticscholar.org/CorpusID:208498567).

1. **[^](#cite_ref-9)** Riant, Florence; Roos, Caroline; Roubertie, Agathe; Barbance, Cécile; Hadjadj, Jessica; Auvin, Stéphane; Baille, Guillaume; Beltramone, Marion; Boulanger, Cécile; Cahn, Alice; Cata, Florina (2022-01-04). ["Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study"](https://www.neurology.org/lookup/doi/10.1212/WNL.0000000000012947). *Neurology*. **98** (1): e51–e61. [doi](/source/Doi_(identifier)):[10.1212/WNL.0000000000012947](https://doi.org/10.1212%2FWNL.0000000000012947). [ISSN](/source/ISSN_(identifier)) [0028-3878](https://search.worldcat.org/issn/0028-3878). [PMID](/source/PMID_(identifier)) [34649875](https://pubmed.ncbi.nlm.nih.gov/34649875). [S2CID](/source/S2CID_(identifier)) [245539537](https://api.semanticscholar.org/CorpusID:245539537).

## External links

- [GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia](https://www.ncbi.nlm.nih.gov/books/NBK1460/)

- [OMIM entries on Familial Paroxysmal Kinesigenic Dyskinesia](https://omim.org/search?index=entry&start=1&limit=10&search=omim/128200,611031&sort=score+desc&field=number)

- [NCBI gene](https://www.ncbi.nlm.nih.gov/gene/112476)

*This article incorporates text from the [United States National Library of Medicine](/source/United_States_National_Library_of_Medicine), which is in the [public domain](/source/Public_domain).*

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

- [v](https://en.wikipedia.org/wiki/Template:Gene-16-stub)
- [t](/source/Template_talk%3AGene-16-stub)
- [e](https://en.wikipedia.org/wiki/Special:EditPage/Template:Gene-16-stub)

---
Adapted from the Wikipedia article [PRRT2](https://en.wikipedia.org/wiki/PRRT2) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/PRRT2?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.