PIEZO2
| Piezo-type mechanosensitive ion channel component 2 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | PIEZO2 ; C18orf30; C18orf58; FAM38B; FAM38B2; HsT748; HsT771 | ||||||||||||
| External IDs | OMIM: 613629 HomoloGene: 49695 GeneCards: PIEZO2 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 63895 | 667742 | |||||||||||
| Ensembl | ENSG00000154864 | ENSMUSG00000041482 | |||||||||||
| UniProt | Q9H5I5 | Q8CD54 | |||||||||||
| RefSeq (mRNA) | NM_022068 | NM_001039485 | |||||||||||
| RefSeq (protein) | NP_071351 | NP_001034574 | |||||||||||
| Location (UCSC) | Chr 18: 10.67 – 11.15 Mb | Chr 18: 63.01 – 63.39 Mb | |||||||||||
| PubMed search | |||||||||||||
Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene. [1]
Function
Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The PIEZO2 protein has a role in rapidly adapting mechanically activated (MA) currents in somatosensory neurons (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010].
Pathology
- Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.[2]
- PIEZO2 mutations link Gordon syndrome (distal arthrogryposis type 3), Marden-Walker syndrome and Arthrogryposis (Distal Arthrogryposis Type 5).[3]
References
- ↑ "Entrez Gene: Piezo-type mechanosensitive ion channel component 2". Retrieved 2013-08-06.
- ↑ Coste, B.; Houge, G.; Murray, M. F.; Stitziel, N.; Bandell, M.; Giovanni, M. A.; Philippakis, A.; Hoischen, A.; Riemer, G.; Steen, U.; Steen, V. M.; Mathur, J.; Cox, J.; Lebo, M.; Rehm, H.; Weiss, S. T.; Wood, J. N.; Maas, R. L.; Sunyaev, S. R.; Patapoutian, A. (2013). "Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis". Proceedings of the National Academy of Sciences 110 (12): 4667–4672. doi:10.1073/pnas.1221400110. PMC 3607045. PMID 23487782.
- ↑ McMillin, M. J.; Beck, A. E.; Chong, J. X.; Shively, K. M.; Buckingham, K. J.; Gildersleeve, H. I. S.; Aracena, M. I.; Aylsworth, A. S.; Bitoun, P.; Carey, J. C.; Clericuzio, C. L.; Crow, Y. J.; Curry, C. J.; Devriendt, K.; Everman, D. B.; Fryer, A.; Gibson, K.; Giovannucci Uzielli, M. L.; Graham, J. M.; Hall, J. G.; Hecht, J. T.; Heidenreich, R. A.; Hurst, J. A.; Irani, S.; Krapels, I. P. C.; Leroy, J. G.; Mowat, D.; Plant, G. T.; Robertson, S. P. et al. (2014). "Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5". The American Journal of Human Genetics. doi:10.1016/j.ajhg.2014.03.015.
Further reading
- Gendep, I.; Mars, I.; Stard, I. (2013). "Common Genetic Variation and Antidepressant Efficacy in Major Depressive Disorder: A Meta-Analysis of Three Genome-Wide Pharmacogenetic Studies". American Journal of Psychiatry 170 (2): 207–217. doi:10.1176/appi.ajp.2012.12020237. PMID 23377640.
- Ahn, M. J.; Won, H. H.; Lee, J.; Lee, S. T.; Sun, J. M.; Park, Y. H.; Ahn, J. S.; Kwon, O. J.; Kim, H.; Shim, Y. M.; Kim, J.; Kim, K.; Kim, Y. H.; Park, J. Y.; Kim, J. W.; Park, K. (2011). "The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations". Human Genetics 131 (3): 365–372. doi:10.1007/s00439-011-1080-z. PMID 21866343.
- Del-Aguila, J. L.; Beitelshees, A. L.; Cooper-Dehoff, R. M.; Chapman, A. B.; Gums, J. G.; Bailey, K.; Gong, Y.; Turner, S. T.; Johnson, J. A.; Boerwinkle, E. (2013). "Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans". The Pharmacogenomics Journal 14 (1): 35–40. doi:10.1038/tpj.2013.3. PMID 23400010.
- Coste, B.; Houge, G.; Murray, M. F.; Stitziel, N.; Bandell, M.; Giovanni, M. A.; Philippakis, A.; Hoischen, A.; Riemer, G.; Steen, U.; Steen, V. M.; Mathur, J.; Cox, J.; Lebo, M.; Rehm, H.; Weiss, S. T.; Wood, J. N.; Maas, R. L.; Sunyaev, S. R.; Patapoutian, A. (2013). "Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis". Proceedings of the National Academy of Sciences 110 (12): 4667–4672. doi:10.1073/pnas.1221400110. PMC 3607045. PMID 23487782.
- Wang, X.; Shaffer, J. R.; Zeng, Z.; Begum, F.; Vieira, A. R.; Noel, J.; Anjomshoaa, I.; Cuenco, K. T.; Lee, M. K.; Beck, J.; Boerwinkle, E.; Cornelis, M. C.; Hu, F. B.; Crosslin, D. R.; Laurie, C. C.; Nelson, S. C.; Doheny, K. F.; Pugh, E. W.; Polk, D. E.; Weyant, R. J.; Crout, R.; McNeil, D. W.; Weeks, D. E.; Feingold, E.; Marazita, M. L. (2012). "Genome-wide association Scan of dental caries in the permanent dentition". BMC Oral Health 12: 57. doi:10.1186/1472-6831-12-57. PMC 3574042. PMID 23259602.
- Xiao, R.; Xu, X. Z. S. (2010). "Mechanosensitive Channels: In Touch with Piezo". Current Biology 20 (21): R936–R938. doi:10.1016/j.cub.2010.09.053. PMC 3018681. PMID 21056836.
- Coste, B. (2011). "Détecter la pression ?". Médecine/sciences 27 (1): 17–19. doi:10.1051/medsci/201127117. PMID 21299953.
- Dubin, A. E.; Schmidt, M.; Mathur, J.; Petrus, M. J.; Xiao, B.; Coste, B.; Patapoutian, A. (2012). "Inflammatory Signals Enhance Piezo2-Mediated Mechanosensitive Currents". Cell Reports 2 (3): 511–517. doi:10.1016/j.celrep.2012.07.014. PMC 3462303. PMID 22921401.
- Luykx, J. J.; Bakker, S. C.; Lentjes, E.; Neeleman, M.; Strengman, E.; Mentink, L.; Deyoung, J.; De Jong, S.; Sul, J. H.; Eskin, E.; Van Eijk, K.; Van Setten, J.; Buizer-Voskamp, J. E.; Cantor, R. M.; Lu, A.; Van Amerongen, M.; Van Dongen, E. P. A.; Keijzers, P.; Kappen, T.; Borgdorff, P.; Bruins, P.; Derks, E. M.; Kahn, R. S.; Ophoff, R. A. (2013). "Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid". Molecular Psychiatry 19 (2): 228–34. doi:10.1038/mp.2012.183. PMID 23319000.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.