ATP2B1

ATPase plasma membrane Ca2+ transporting 1

Summary

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants109 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254063191412:89,984,789G/A—uncertain significance
rs254063193312:89,984,792C/A—uncertain significance
rs254063361412:89,984,867T/C—uncertain significance
rs254063374512:89,984,874T/C—uncertain significance
rs100679389612:89,984,883G/T—uncertain significance
rs132958370712:89,984,885G/T—uncertain significance
rs37543500612:89,984,969A/G—uncertain significance
rs254063577312:89,984,971C/G—uncertain significance
rs6173687812:89,985,004C/A—benign
rs254063721412:89,985,057C/A—uncertain significance
rs11774224712:89,991,313C/Tdownstream gene variant—
rs104161677512:89,993,007C/T—uncertain significance
rs1110533712:89,993,507A/Tintron variant—
rs254076369312:89,995,161G/C—likely pathogenic
rs213594224412:89,996,818A/C—likely pathogenic
rs254078450012:89,996,825C/G—uncertain significance
rs143958698212:89,996,845A/G—uncertain significance
rs77045824512:89,996,880G/T—uncertain significance
rs143345840912:89,996,908C/T—conflicting classifications of pathogenicity
rs187620542412:89,996,921C/A—likely pathogenic
rs37081071312:89,996,942C/A—likely pathogenic
rs254078673912:89,996,987G/C—uncertain significance
rs75483793312:89,997,495A/T—uncertain significance
rs254079645312:89,997,518A/C—uncertain significance
rs254079662312:89,997,531C/T—uncertain significance
rs254079736212:89,997,588A/G—uncertain significance
rs254079889212:89,997,696G/T—uncertain significance
rs103357759212:89,997,934G/A—pathogenic
rs254080365312:89,997,996T/C—pathogenic
rs3534973012:89,998,019A/G—benign
rs254080395212:89,998,030G/A—conflicting classifications of pathogenicity
rs254080398412:89,998,032C/T—uncertain significance
rs254080405212:89,998,033C/A—pathogenic
rs213594957012:89,998,096C/T—likely pathogenic
rs254087395912:90,003,730T/C—uncertain significance
rs254087464012:90,003,770C/T—uncertain significance
rs116106113412:90,003,791G/A—conflicting classifications of pathogenicity
rs254087515912:90,003,797C/A—uncertain significance
rs187769656512:90,003,803C/T—uncertain significance
rs90297627612:90,004,987G/A—pathogenic
rs77932645012:90,005,103C/T—uncertain significance
rs268147212:90,008,959A/Gintron variant—
rs37310445012:90,010,576C/T—uncertain significance
rs3541438512:90,010,594A/G—benign
rs254097187812:90,010,641C/T—uncertain significance
rs74550342912:90,010,651A/C—uncertain significance
rs254097331112:90,010,762G/A—uncertain significance
rs268149212:90,013,089T/Cregulatory region variant—
rs254101206212:90,013,789T/C—uncertain significance
rs187971177212:90,013,816G/A—pathogenic
rs254103158612:90,015,363C/G—uncertain significance
rs36940276612:90,015,375T/C—uncertain significance
rs187999305212:90,015,537T/C—likely pathogenic
rs254103463412:90,015,552T/C—uncertain significance
rs207075912:90,017,736G/Tintron variant—
rs213610636012:90,018,030G/T—likely pathogenic
rs90577092712:90,018,067T/C—uncertain significance
rs213610657112:90,018,069T/C—uncertain significance
rs254106863312:90,018,092C/G—uncertain significance
rs77217216412:90,018,157T/C—uncertain significance
rs1281894512:90,018,234C/Aintron variant—
rs5748106112:90,019,178C/A——
rs729720612:90,019,229C/Tintron variant—
rs1110534712:90,020,385G/T—benign
rs74692887212:90,021,472A/G—uncertain significance
rs102659223312:90,021,480A/T—uncertain significance
rs159279425312:90,024,382T/C—likely benign
rs213615872512:90,024,419G/A—likely pathogenic
rs1258100212:90,024,847A/Gintron variant—
rs268148512:90,025,622G/Aintron variant—
rs1110535212:90,026,462G/Aregulatory region variant—
rs76548952912:90,028,584G/C—uncertain significance
rs213619226712:90,028,626T/C—likely pathogenic
rs254126242612:90,028,655T/C—uncertain significance
rs37237844912:90,028,803G/A—uncertain significance
rs76501315812:90,028,810C/G—uncertain significance
rs213619386012:90,028,977C/T—likely pathogenic
rs188248922112:90,028,996C/G—uncertain significance
rs188249417912:90,029,011C/T—uncertain significance
rs96524275312:90,029,013G/C—uncertain significance
rs188364260612:90,035,934C/T—likely pathogenic
rs77121663912:90,035,944C/T—uncertain significance
rs254141296712:90,035,998C/T—uncertain significance
rs254141409612:90,036,066G/A—uncertain significance
rs116212675312:90,036,115C/T—uncertain significance
rs14973139712:90,037,398G/Aintron variant—
rs7451461012:90,043,472T/Aintron variant—
rs11238926312:90,043,679A/Gintron variant—
rs76385732012:90,049,515T/C—uncertain significance
rs148741943812:90,049,532A/C—uncertain significance
rs76669712512:90,049,545A/G—uncertain significance
rs141489966212:90,049,552T/C—uncertain significance
rs75832056412:90,049,561G/A—uncertain significance
rs74579930812:90,049,574C/A—likely benign
rs254163795812:90,049,599T/C—uncertain significance
rs93681298812:90,049,614G/T—uncertain significance
rs75647531412:90,049,659C/T—uncertain significance
rs11147894612:90,058,842G/Aintron variant—
rs1724975412:90,060,586G/Aintron variant—
rs1110536412:90,069,276T/Gintron variant—

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.