Biology:PIEZO2

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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

  1. "Entrez Gene: Piezo-type mechanosensitive ion channel component 2". https://www.ncbi.nlm.nih.gov/gene/63895. 
  2. "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. 
  3. "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. 
  4. "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. 
  5. "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. 
  6. "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. 
  7. "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. 
  8. "Piezo2 is the principal mechanotransduction channel for proprioception". Nature Neuroscience 18 (12): 1756–62. December 2015. doi:10.1038/nn.4162. PMID 26551544. 
  9. "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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.