PIEZO2

PIEZO2
Identifiers
AliasesPIEZO2, C18orf30, C18orf58, DA3, DA5, FAM38B, FAM38B2, HsT748, HsT771, MWKS, piezo type mechanosensitive ion channel component 2, DAIPT
External IDsMGI: 1918781 HomoloGene: 49695 GeneCards: PIEZO2
Gene location (Human)
Chr.Chromosome 18 (human)[1]
Band18p11.22-p11.21Start10,666,483 bp[1]
End11,148,762 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

63895

667742

Ensembl

ENSG00000154864

ENSMUSG00000041482

UniProt

Q9H5I5

Q8CD54

RefSeq (mRNA)

NM_022068
NM_173817

NM_001039485
NM_172629

RefSeq (protein)

NP_071351

NP_001034574

Location (UCSC)Chr 18: 10.67 – 11.15 MbChr 18: 63.01 – 63.39 Mb
PubMed search[3][4]
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.[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.[6]

Pathology

  • Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.[7]
  • Recent studies show that the congenital atrophy in PIEZO2 leads to not having self perception of extremities, and so the distortion in the response to touch (where the response was linked to an emotional response rather than a physical one). It was performed with two patients who would not be able to attempt to coordinate their movements without visually doing it, nor could they know where their extremities were at.
  • PIEZO2 mutations link Gordon syndrome (distal arthrogryposis type 3), Marden-Walker syndrome and Arthrogryposis (Distal Arthrogryposis Type 5).[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000154864 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041482 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: Piezo-type mechanosensitive ion channel component 2". Retrieved 2013-08-06.
  6. ↑ Coste B, Mathur J, Schmidt M, Earley TJ, Ranade S, Petrus MJ, Dubin AE, Patapoutian A (October 2010). "Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels". Science. 330 (6000): 55–60. doi:10.1126/science.1193270. PMC 3062430. PMID 20813920.
  7. ↑ Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A (March 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 of the United States of America. 110 (12): 4667–72. doi:10.1073/pnas.1221400110. PMC 3607045. PMID 23487782.
  8. ↑ McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ (May 2014). "Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5". American Journal of Human Genetics. 94 (5): 734–44. doi:10.1016/j.ajhg.2014.03.015. PMC 4067551. 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.
  • Ahn MJ, Won HH, Lee J, Lee ST, Sun JM, Park YH, Ahn JS, Kwon OJ, Kim H, Shim YM, Kim J, Kim K, Kim YH, Park JY, Kim JW, Park K (March 2012). "The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations". Human Genetics. 131 (3): 365–72. doi:10.1007/s00439-011-1080-z. PMID 21866343.
  • Del-Aguila JL, Beitelshees AL, Cooper-Dehoff RM, Chapman AB, Gums JG, Bailey K, Gong Y, Turner ST, Johnson JA, Boerwinkle E (February 2014). "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. PMC 3812324. PMID 23400010.
  • Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A (March 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 of the United States of America. 110 (12): 4667–72. doi:10.1073/pnas.1221400110. PMC 3607045. PMID 23487782.
  • Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB, Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE, Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E, Marazita ML (December 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 XZ (November 2010). "Mechanosensitive channels: in touch with Piezo". Current Biology. 20 (21): R936–8. doi:10.1016/j.cub.2010.09.053. PMC 3018681. PMID 21056836.
  • Coste B (January 2011). "[Feeling the pressure? Identification of two proteins activated by mechanical forces]". Medecine Sciences. 27 (1): 17–9. doi:10.1051/medsci/201127117. PMID 21299953.
  • Dubin AE, Schmidt M, Mathur J, Petrus MJ, Xiao B, Coste B, Patapoutian A (September 2012). "Inflammatory signals enhance piezo2-mediated mechanosensitive currents". Cell Reports. 2 (3): 511–7. doi:10.1016/j.celrep.2012.07.014. PMC 3462303. PMID 22921401.
  • Luykx JJ, Bakker SC, Lentjes E, Neeleman M, Strengman E, Mentink L, DeYoung J, de Jong S, Sul JH, Eskin E, van Eijk K, van Setten J, Buizer-Voskamp JE, Cantor RM, Lu A, van Amerongen M, van Dongen EP, Keijzers P, Kappen T, Borgdorff P, Bruins P, Derks EM, Kahn RS, Ophoff RA (February 2014). "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.


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