PON2

paraoxonase 2

Summary

This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants69 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77858467:95,033,841C/Tdownstream gene variant—
rs77864017:95,034,001G/Tdownstream gene variant—
rs133067027:95,034,046C/Gdownstream gene variant—
rs1997226987:95,034,638C/T—uncertain significance
rs74937:95,034,775G/Cmissense variantbenign
rs96411647:95,034,821A/T—benign
rs1910212417:95,035,437C/T—likely benign
rs7781967587:95,035,452C/T—likely benign
rs7718604117:95,035,453G/A—uncertain significance
rs7630754157:95,035,464G/A—likely benign
rs2013010427:95,035,505C/T—uncertain significance
rs37355867:95,035,582A/T—benign
rs1831738497:95,035,628T/Cintron variant—
rs127047947:95,036,133A/T—benign
rs7686846557:95,036,351T/C—uncertain significance
rs7588868337:95,036,368A/C—likely benign
rs3740479667:95,036,378T/C—uncertain significance
rs9875397:95,036,992C/Tintron variant—
rs3728703087:95,039,199A/G—benign
rs3720085677:95,039,206G/A—uncertain significance
rs2008977747:95,039,231T/C—likely benign
rs24845564397:95,039,248A/G—likely benign
rs24845569247:95,039,338T/G—uncertain significance
rs178761527:95,039,394C/G—benign
rs22862327:95,039,445C/T—benign
rs3735010207:95,040,988T/C—likely benign
rs1163970667:95,040,996G/A—likely benign
rs1165202267:95,041,003C/T—benign
rs120267:95,041,016G/Cmissense variantbenign
rs12507093507:95,041,084T/C—likely benign
rs7677221327:95,041,089C/T—uncertain significance
rs171668757:95,041,271C/T—benign
rs5524705937:95,041,444G/A——
rs5303092237:95,041,487C/A——
rs20686047:95,041,542G/T—benign
rs7625062897:95,041,632A/C—likely benign
rs1163974737:95,041,633T/C—likely benign
rs24845645547:95,041,647C/T—uncertain significance
rs13166267227:95,041,680C/A—uncertain significance
rs7697281997:95,041,681G/A—uncertain significance
rs3742627647:95,041,698C/T—uncertain significance
rs2015529957:95,041,704C/G—likely benign
rs133067017:95,041,718T/C—benign
rs24845652387:95,041,755G/A—uncertain significance
rs7477940967:95,041,763G/A—likely benign
rs3726434577:95,041,773C/G—uncertain significance
rs24845653947:95,041,789C/T—uncertain significance
rs1865861977:95,042,426A/Cupstream gene variant—
rs178761247:95,045,258C/G—benign
rs178761237:95,045,307C/A—benign
rs1158007487:95,045,560A/G—benign
rs10348097:95,051,652G/Aintron variant—
rs21588067:95,051,998A/Cintron variant—
rs171668797:95,053,415A/T——
rs24845989007:95,053,833C/T—uncertain significance
rs133066997:95,053,880G/T—uncertain significance
rs24845991347:95,053,901T/C—uncertain significance
rs127047957:95,054,007T/Gintron variantbenign
rs7790752597:95,054,306C/T——
rs119814337:95,054,340T/Cintron variant—
rs779053067:95,055,585A/Gintron variant—
rs119824867:95,055,598T/Cintron variant—
rs47291897:95,057,959T/C——
rs5777972797:95,063,816C/T——
rs11839010527:95,064,219C/G—likely benign
rs14793240227:95,064,236G/A—likely benign
rs178761837:95,064,268C/Tregulatory region variantbenign
rs10050174547:95,064,278G/A—uncertain significance
rs5689852737:95,064,315G/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.