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Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene.
[5]
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.[6]
^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. PMID23377640.
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. PMID21866343.
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. PMID23400010.
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. PMC3574042. PMID23259602.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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. PMID23319000.
