Protein-coding gene in the species Homo sapiens
PRRT2 |
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Identifiers |
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Aliases | PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2 |
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External IDs | OMIM: 614386; MGI: 1916267; HomoloGene: 114328; GeneCards: PRRT2; OMA:PRRT2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 16 (human)[1] |
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| Band | 16p11.2 | Start | 29,811,382 bp[1] |
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End | 29,815,892 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 7 (mouse)[2] |
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| Band | 7|7 F3 | Start | 127,017,531 bp[2] |
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End | 127,021,211 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - cerebellar vermis
- Brodmann area 9
- middle temporal gyrus
- prefrontal cortex
- superior frontal gyrus
- nucleus accumbens
- cingulate gyrus
- postcentral gyrus
- caudate nucleus
- putamen
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| Top expressed in | - cerebellar cortex
- superior frontal gyrus
- hippocampus proper
- hypothalamus
- morula
- olfactory bulb
- neural tube
- mesencephalon
- ganglionic eminence
- thymus
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001256442 NM_001256443 NM_145239 |
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RefSeq (protein) | |
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NP_001243371 NP_001243372 NP_660282 |
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Location (UCSC) | Chr 16: 29.81 – 29.82 Mb | Chr 7: 127.02 – 127.02 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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]
See also
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
- 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.