Biology:PIEZO2
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Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene.[1] It has a homotrimeric structure, with three blades curving into a nano-dome, with a diameter of 28 nanometers.[2]
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.[3] Its structure is resolved via a mouse version in 2019, showing the predicted homotrimeric propeller.[4]
PIEZO2 is typically found in tissues that respond to physical touch, such as Merkel cells,[5] and is thought to regulate light touch response.[6]
Pathology
- Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.[7]
- Mice without PIEZO2 in their proprioceptive neurons show uncoordinated body movements, indicating that PIEZO2 plays a role in mammalian proprioception.[8]
- PIEZO2 mutations link Gordon syndrome (distal arthrogryposis type 3), Marden-Walker syndrome and Arthrogryposis (Distal Arthrogryposis Type 5).[9]
See also
References
- ↑ "Entrez Gene: Piezo-type mechanosensitive ion channel component 2". https://www.ncbi.nlm.nih.gov/gene/63895.
- ↑ "Structure and mechanogating of the mammalian tactile channel PIEZO2". Nature 573 (7773): 225–229. September 2019. doi:10.1038/s41586-019-1505-8. PMID 31435011.
- ↑ "Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels". Science 330 (6000): 55–60. October 2010. doi:10.1126/science.1193270. PMID 20813920.
- ↑ "Structure and mechanogating of the mammalian tactile channel PIEZO2". Nature 573 (7773): 225–229. September 2019. doi:10.1038/s41586-019-1505-8. PMID 31435011.
- ↑ "Touch, Tension, and Transduction - The Function and Regulation of Piezo Ion Channels". Trends in Biochemical Sciences 42 (1): 57–71. January 2017. doi:10.1016/j.tibs.2016.09.004. PMID 27743844.
- ↑ "piezo2b regulates vertebrate light touch response". The Journal of Neuroscience 33 (43): 17089–94. October 2013. doi:10.1523/jneurosci.0522-13.2013. PMID 24155313.
- ↑ "Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis". Proceedings of the National Academy of Sciences of the United States of America 110 (12): 4667–72. March 2013. doi:10.1073/pnas.1221400110. PMID 23487782.
- ↑ "Piezo2 is the principal mechanotransduction channel for proprioception". Nature Neuroscience 18 (12): 1756–62. December 2015. doi:10.1038/nn.4162. PMID 26551544.
- ↑ "Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5". American Journal of Human Genetics 94 (5): 734–44. May 2014. doi:10.1016/j.ajhg.2014.03.015. PMID 24726473.
Further reading
- "Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies". The American Journal of Psychiatry 170 (2): 207–17. February 2013. doi:10.1176/appi.ajp.2012.12020237. PMID 23377640.
- "The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations". Human Genetics 131 (3): 365–72. March 2012. doi:10.1007/s00439-011-1080-z. PMID 21866343.
- "Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans". The Pharmacogenomics Journal 14 (1): 35–40. February 2014. doi:10.1038/tpj.2013.3. PMID 23400010.
- "Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis". Proceedings of the National Academy of Sciences of the United States of America 110 (12): 4667–72. March 2013. doi:10.1073/pnas.1221400110. PMID 23487782.
- "Genome-wide association scan of dental caries in the permanent dentition". BMC Oral Health 12: 57. December 2012. doi:10.1186/1472-6831-12-57. PMID 23259602.
- "Mechanosensitive channels: in touch with Piezo". Current Biology 20 (21): R936-8. November 2010. doi:10.1016/j.cub.2010.09.053. PMID 21056836.
- "[Feeling the pressure? Identification of two proteins activated by mechanical forces]". Médecine/Sciences 27 (1): 17–9. January 2011. doi:10.1051/medsci/201127117. PMID 21299953.
- "Inflammatory signals enhance piezo2-mediated mechanosensitive currents". Cell Reports 2 (3): 511–7. September 2012. doi:10.1016/j.celrep.2012.07.014. PMID 22921401.
- "Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid". Molecular Psychiatry 19 (2): 228–34. February 2014. 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.
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