PIEZO2

piezo type mechanosensitive ion channel component 2

Summary

The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

Known Variants886 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15025664618:10,671,541T/C—uncertain significance
rs203377647318:10,671,567G/A—conflicting classifications of pathogenicity
rs58777745418:10,671,568A/Gmissense variantpathogenic
rs87885313518:10,671,575——pathogenic
rs14939540518:10,671,587T/C—likely benign
rs100179764318:10,671,595A/G—uncertain significance
rs159833666418:10,671,617T/C—likely benign
rs58777745218:10,671,630C/Amissense variantpathogenic
rs75303456518:10,671,631G/A—uncertain significance
rs214337322918:10,671,642A/G—uncertain significance
rs127429978318:10,671,655A/G—likely benign
rs18945352418:10,671,666C/T—conflicting classifications of pathogenicity
rs76151421418:10,671,710C/T—likely benign
rs58777745018:10,671,726C/Tmissense variantpathogenic
rs58777745118:10,671,727G/Amissense variantpathogenic
rs203378715318:10,671,736T/C—uncertain significance
rs203378744818:10,671,738C/A—uncertain significance
rs37149013518:10,671,764T/C—likely benign
rs37347211418:10,671,786A/G—likely benign
rs119123918:10,672,040G/A—benign
rs7963770618:10,672,511C/T—likely benign
rs18576941918:10,672,589A/G—likely benign
rs75025691718:10,672,670G/T—likely benign
rs14640044718:10,672,692G/A—likely benign
rs117445559618:10,672,706C/A—uncertain significance
rs159833816018:10,672,712T/C—uncertain significance
rs37676194418:10,672,732T/C—uncertain significance
rs251021784418:10,672,744A/C—uncertain significance
rs13845486218:10,672,764C/T—likely benign
rs36794358318:10,672,765G/T—likely benign
rs14236410418:10,672,766G/C—uncertain significance
rs75371914218:10,672,772A/G—uncertain significance
rs134610295118:10,672,779G/C—uncertain significance
rs3413424218:10,672,782T/A—likely benign
rs130586887618:10,672,816T/A—uncertain significance
rs14260574818:10,672,851G/A—likely benign
rs95269941918:10,672,853T/A—uncertain significance
rs143792189118:10,672,859T/C—uncertain significance
rs5595461318:10,672,975G/A—benign
rs15058920318:10,675,043A/C—likely benign
rs6209393318:10,675,141A/G—likely benign
rs18418332818:10,675,190T/G—benign
rs7841117018:10,675,194T/C—likely benign
rs203394026518:10,675,201C/G—uncertain significance
rs14210303518:10,675,208G/T—uncertain significance
rs74660614218:10,675,210T/C—likely benign
rs78164842618:10,675,224T/C—benign
rs77032448418:10,675,227G/A—uncertain significance
rs95569074818:10,675,247G/A—uncertain significance
rs13915543518:10,675,248G/A—uncertain significance
rs214342104218:10,675,258A/T—pathogenic
rs37481533618:10,675,317G/T—likely benign
rs809971918:10,675,402A/G—benign
rs7339137318:10,675,432C/T—benign
rs203407382318:10,677,725T/G—uncertain significance
rs75155764218:10,677,727G/A—likely benign
rs91256041518:10,677,737C/G—uncertain significance
rs156793797318:10,677,752T/G—uncertain significance
rs14764183918:10,677,762T/C—conflicting classifications of pathogenicity
rs37071221618:10,677,765G/T—uncertain significance
rs75540726118:10,677,768C/T—likely benign
rs20052086118:10,677,790C/T—uncertain significance
rs37658283718:10,677,791G/A—likely benign
rs57682446418:10,677,802G/A—pathogenic
rs76856306118:10,677,829G/T—uncertain significance
rs77288200818:10,677,848C/T—benign
rs14766607218:10,677,856C/T—conflicting classifications of pathogenicity
rs7467434418:10,677,880G/A—likely benign
rs60041918:10,677,979T/C—benign
rs60043318:10,677,992G/T—benign
rs68917818:10,679,887A/G—benign
rs68914618:10,679,907G/A—benign
rs68871418:10,680,017T/C—benign
rs48600118:10,680,024C/A—benign
rs7946340318:10,680,031A/G—likely benign
rs194438318:10,680,104C/T—benign
rs68823718:10,680,132C/T—benign
rs68822218:10,680,142T/A—benign
rs48703718:10,680,163A/G—benign
rs129925599818:10,680,270A/C—uncertain significance
rs214348788818:10,680,328A/G—uncertain significance
rs214348803818:10,680,333T/A—uncertain significance
rs136487106118:10,680,340T/C—benign
rs203421048218:10,680,341C/A—pathogenic
rs251023446618:10,680,352A/G—uncertain significance
rs1296737218:10,680,642G/C—benign
rs11731283418:10,681,376T/C—likely benign
rs374842918:10,681,447C/A—benign
rs6209395718:10,681,555T/C—likely benign
rs74687907618:10,681,658G/C—likely benign
rs14329964918:10,681,679T/C—uncertain significance
rs155562322818:10,681,684A/C—uncertain significance
rs159834851918:10,681,708T/G—uncertain significance
rs374842818:10,681,711C/T—benign
rs11291468318:10,681,730G/T—likely benign
rs140774378218:10,681,750G/T—uncertain significance
rs54561818:10,681,929A/G—benign
rs145480016718:10,682,100C/G—likely pathogenic
rs36945193018:10,682,134G/A—likely benign
rs159834912818:10,682,139G/A—likely benign

Showing 100 of 886 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.