PIEZO2

PIEZO2
Identifiers
Aliases PIEZO2, C18orf30, C18orf58, DA3, DA5, FAM38B, FAM38B2, HsT748, HsT771, MWKS, piezo type mechanosensitive ion channel component 2
External IDs MGI: 1918781 HomoloGene: 49695 GeneCards: PIEZO2
Orthologs
Species Human Mouse
Entrez

63895

667742

Ensembl

ENSG00000154864

ENSMUSG00000041482

UniProt

Q9H5I5

Q8CD54

RefSeq (mRNA)

NM_022068
NM_173817

NM_001039485
NM_172629

RefSeq (protein)

NP_071351.2

NP_001034574.4

Location (UCSC) Chr 18: 10.67 – 11.15 Mb Chr 18: 63.01 – 63.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene. [3]

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

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. "Entrez Gene: Piezo-type mechanosensitive ion channel component 2". Retrieved 2013-08-06.
  4. 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 3607045Freely accessible. PMID 23487782.
  5. 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

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


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