PKD2

polycystin 2, transient receptor potential cation channel

Summary

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

Known Variants753 total

rsidPosition (GRCh37)AllelesClassClinVar
rs99945254:88,928,535G/C—likely benign
rs5437744674:88,928,589G/A—likely benign
rs1474384164:88,928,765G/A—likely benign
rs5297797784:88,928,804G/A—uncertain significance
rs5478651634:88,928,818A/G—uncertain significance
rs8860596934:88,928,822C/T—uncertain significance
rs7700965574:88,928,839G/C—uncertain significance
rs5304445544:88,928,860C/T—uncertain significance
rs5521150974:88,928,872C/A—likely benign
rs12007965834:88,928,883G/A—likely benign
rs14775109944:88,928,887T/A—uncertain significance
rs24763563404:88,928,891G/A—likely benign
rs7733432454:88,928,894C/T—conflicting classifications of pathogenicity
rs17262216784:88,928,896C/A—uncertain significance
rs13079603654:88,928,902G/A—uncertain significance
rs24763563854:88,928,903C/G—likely benign
rs13667827914:88,928,904G/A—uncertain significance
rs21100800234:88,928,908A/G—uncertain significance
rs14599802174:88,928,920C/T—likely benign
rs12284305874:88,928,922G/C—uncertain significance
rs12719444164:88,928,924G/C—likely benign
rs24763564754:88,928,927C/T—likely benign
rs12415203334:88,928,931A/G—uncertain significance
rs13700428424:88,928,939G/C—likely benign
rs24763565204:88,928,940C/T—uncertain significance
rs24763565304:88,928,941C/T—uncertain significance
rs12132582364:88,928,944C/T—uncertain significance
rs13382613494:88,928,949C/A—uncertain significance
rs14506304384:88,928,950G/A—uncertain significance
rs21100800814:88,928,953C/T—uncertain significance
rs7862042214:88,928,955C/T—conflicting classifications of pathogenicity
rs24763566234:88,928,958G/C—uncertain significance
rs10377159514:88,928,961C/A—uncertain significance
rs14471029824:88,928,962C/T—uncertain significance
rs8993786354:88,928,963G/T—likely benign
rs24763566454:88,928,967C/T—uncertain significance
rs18050444:88,928,968G/C—benign
rs15781111484:88,928,970C/G—uncertain significance
rs13935266564:88,928,980G/A—uncertain significance
rs7592636384:88,928,988G/A—uncertain significance
rs7651765234:88,928,989C/A—uncertain significance
rs10079605234:88,928,994G/A—uncertain significance
rs11617528434:88,928,997G/A—uncertain significance
rs24763567784:88,928,999C/A—likely benign
rs12747843104:88,929,005C/T—likely benign
rs24763568054:88,929,006G/C—uncertain significance
rs14301338804:88,929,008C/T—likely benign
rs13022500194:88,929,017C/T—likely benign
rs15781112004:88,929,018G/A—uncertain significance
rs13476654724:88,929,021C/T—uncertain significance
rs17262286644:88,929,025G/T—uncertain significance
rs24763569484:88,929,029G/C—uncertain significance
rs10575189064:88,929,030C/Tstop gainedpathogenic
rs24763569674:88,929,031A/G—uncertain significance
rs13831831114:88,929,034G/C—uncertain significance
rs24763569924:88,929,035G/A—likely benign
rs13228016464:88,929,037G/T—uncertain significance
rs8860596944:88,929,039C/A—uncertain significance
rs17262293624:88,929,040T/C—uncertain significance
rs10192930304:88,929,046T/C—uncertain significance
rs14317205654:88,929,048G/A—uncertain significance
rs11757058564:88,929,055A/G—uncertain significance
rs12636746954:88,929,065G/A—likely benign
rs13553724744:88,929,066C/T—pathogenic
rs24763571414:88,929,067A/G—uncertain significance
rs5681631194:88,929,070C/T—uncertain significance
rs8860596954:88,929,074C/T—conflicting classifications of pathogenicity
rs7636293634:88,929,081G/C—uncertain significance
rs9883965054:88,929,083C/A—conflicting classifications of pathogenicity
rs14260112774:88,929,084C/T—uncertain significance
rs7512210934:88,929,088C/A—uncertain significance
rs12067587004:88,929,089G/A—likely benign
rs17262335334:88,929,093G/T—pathogenic
rs12849041374:88,929,103C/T—uncertain significance
rs15605919924:88,929,104C/T—likely benign
rs24763573894:88,929,109C/A—uncertain significance
rs5468605554:88,929,114C/T—uncertain significance
rs7809231384:88,929,115C/G—uncertain significance
rs24763574284:88,929,118C/T—uncertain significance
rs17262352294:88,929,120C/T—uncertain significance
rs5682492934:88,929,124C/T—uncertain significance
rs12394347214:88,929,130G/C—uncertain significance
rs13265561504:88,929,136G/A—uncertain significance
rs24763575024:88,929,137G/A—likely benign
rs24763575044:88,929,138C/T—pathogenic
rs24763575074:88,929,139A/G—uncertain significance
rs9079261484:88,929,141G/A—uncertain significance
rs15781113454:88,929,146G/A—pathogenic
rs17262369474:88,929,158C/T—likely benign
rs9407585174:88,929,159C/T—conflicting classifications of pathogenicity
rs15781113654:88,929,174G/C—uncertain significance
rs15781113784:88,929,180G/T—pathogenic
rs14102357684:88,929,188G/A—likely benign
rs15781114074:88,929,192G/A—uncertain significance
rs24763578264:88,929,209C/T—likely benign
rs24763578294:88,929,210G/T—pathogenic
rs17262408024:88,929,211G/T—uncertain significance
rs17262411844:88,929,216G/A—uncertain significance
rs24763578734:88,929,226T/G—uncertain significance
rs13483776404:88,929,240C/A—uncertain significance

Showing 100 of 753 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.