PRRT2

Last updated
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
Orthologs
SpeciesHumanMouse
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 that in humans is encoded by the PRRT2 gene. [5]

Contents

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000167371 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.
  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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