TRPM5

transient receptor potential cation channel subfamily M member 5

Summary

This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]

Known Variants130 total

rsidPosition (GRCh37)AllelesClassClinVar
rs793472911:2,426,100G/Adownstream gene variant—
rs95527714111:2,426,177G/A—uncertain significance
rs37511642711:2,426,196C/T—uncertain significance
rs20180029811:2,426,219C/G—uncertain significance
rs14107483211:2,426,238C/G—uncertain significance
rs7952625811:2,426,259C/T—benign
rs14346420311:2,426,760G/A—likely benign
rs37323628711:2,426,768C/T—conflicting classifications of pathogenicity
rs132884928211:2,426,780A/T—uncertain significance
rs36943971511:2,426,787C/G—uncertain significance
rs74762257611:2,426,789G/A—uncertain significance
rs230169611:2,426,984G/Cdownstream gene variant—
rs78087217511:2,427,264C/G—uncertain significance
rs54688446811:2,427,271C/T—uncertain significance
rs14237228811:2,427,272G/A—uncertain significance
rs75940049811:2,427,292C/T—uncertain significance
rs56733518411:2,427,480C/G——
rs20206977911:2,427,907G/A—uncertain significance
rs77047034911:2,427,936C/T—uncertain significance
rs37513745711:2,428,393C/A—uncertain significance
rs75019965611:2,428,417A/G—uncertain significance
rs147846315011:2,428,473G/A—likely benign
rs19974149811:2,428,495A/C—uncertain significance
rs37193063211:2,428,496T/C—uncertain significance
rs52906773511:2,428,502C/T—uncertain significance
rs77229215611:2,428,999C/T—uncertain significance
rs14587147411:2,429,032C/A—uncertain significance
rs20155656111:2,429,080G/A—uncertain significance
rs134710241811:2,429,085G/A—uncertain significance
rs13845271111:2,429,117G/A—likely benign
rs14400650211:2,429,125A/G—uncertain significance
rs80034411:2,429,653A/C——
rs80034511:2,429,733T/A——
rs80034711:2,430,597G/Adownstream gene variant—
rs80034811:2,430,865C/G——
rs20171039711:2,432,686G/A—uncertain significance
rs75408853111:2,432,732A/G—uncertain significance
rs14609699211:2,432,744A/C—uncertain significance
rs77553611811:2,432,870G/A—uncertain significance
rs249663883111:2,432,885T/C—uncertain significance
rs207423411:2,432,964T/Csynonymous variant—
rs74829948511:2,433,405T/C—uncertain significance
rs37676620511:2,433,465C/G—uncertain significance
rs14674969911:2,433,989G/A—uncertain significance
rs14383093611:2,434,109C/T—uncertain significance
rs76098228011:2,434,124C/T—uncertain significance
rs75847382611:2,434,171C/T—uncertain significance
rs76538191211:2,434,213G/A—uncertain significance
rs75449009211:2,434,415T/C—uncertain significance
rs37182000611:2,434,727T/C—uncertain significance
rs14994962411:2,434,731C/T—likely benign
rs37373084411:2,434,761G/C—uncertain significance
rs36761008611:2,434,782C/T—likely benign
rs55242602011:2,435,299C/T—uncertain significance
rs7559644611:2,435,333G/A—benign
rs185051608511:2,435,350A/G—uncertain significance
rs76852608811:2,435,370C/T—uncertain significance
rs77589504011:2,435,392C/T—uncertain significance
rs14147574111:2,435,401G/A—uncertain significance
rs19316362511:2,435,967C/T—benign
rs57440987411:2,435,968G/T—uncertain significance
rs54983448011:2,435,977G/A—likely benign
rs74610116911:2,436,023T/G—uncertain significance
rs20129852811:2,436,158C/T—uncertain significance
rs75525021311:2,436,168C/A—uncertain significance
rs14199538011:2,436,258C/T—likely benign
rs88619590411:2,436,354C/A—uncertain significance
rs76445657511:2,436,361C/T—uncertain significance
rs76772205311:2,436,367C/G—uncertain significance
rs75037682411:2,436,373C/G—uncertain significance
rs36838018911:2,436,401C/T—uncertain significance
rs100350822111:2,436,405C/G—likely benign
rs98951607111:2,436,427C/A—uncertain significance
rs3455125311:2,436,464C/Tmissense variant—
rs20080195911:2,436,465G/A—likely benign
rs36960810611:2,436,476G/A—uncertain significance
rs37363142711:2,436,479C/T—uncertain significance
rs20107695411:2,436,490C/T—uncertain significance
rs75119861711:2,436,511C/T—uncertain significance
rs117114562211:2,436,524G/C—uncertain significance
rs77940043811:2,436,529C/T—uncertain significance
rs74847620211:2,436,530G/A—uncertain significance
rs8032611911:2,436,559C/T—benign
rs76269331511:2,436,566C/T—uncertain significance
rs75873143811:2,436,593C/T—uncertain significance
rs37453678611:2,436,615G/T—uncertain significance
rs11450483711:2,436,624G/A—benign
rs76600099511:2,436,629C/T—uncertain significance
rs55414557111:2,436,650C/T—uncertain significance
rs37540319111:2,436,671C/T—uncertain significance
rs77807014511:2,437,155T/C—uncertain significance
rs148701547011:2,437,243G/C—uncertain significance
rs230169811:2,437,425T/Gregulatory region variant—
rs15041135811:2,439,024G/A—likely benign
rs13819788811:2,439,033G/T—conflicting classifications of pathogenicity
rs74948667111:2,439,406C/G—uncertain significance
rs94963278411:2,439,500T/C—uncertain significance
rs20063764211:2,439,507G/A—likely benign
rs77320593111:2,439,525C/T—uncertain significance
rs76257943711:2,439,536G/C—uncertain significance

Showing 100 of 130 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.