PRRT2

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)
End	29,815,892 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	127,021,211 bp
RNA expression pattern
	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
	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
	112476
	69017
	ENSG00000167371
	ENSMUSG00000045114
	Q7Z6L0
	E9PUL5
	NM_001256442; NM_001256443; NM_145239
	NM_001102563
	NP_001243371; NP_001243372; NP_660282
	NP_001096033
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167371 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045114 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.
^ 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.
^ 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.
^ 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.
^ 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". Neurology. 98 (1): e51–e61. doi:10.1212/WNL.0000000000012947. ISSN 0028-3878. PMID 34649875. S2CID 245539537.

External links

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

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167371 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Proline-rich transmembrane protein 2". Retrieved 2011-11-26.

[pmid22101681-6] 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.

[pmid22131361-7] 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.

[Papandreou-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.

[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". Neurology. 98 (1): e51–e61. doi:10.1212/WNL.0000000000012947. ISSN 0028-3878. PMID 34649875. S2CID 245539537.

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Structure and tissue distribution

Clinical significance

See also

References

External links