SLC8A1
solute carrier family 8 member A1
Summary
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2466097774 | 2:40,342,424 | A/G | — | uncertain significance |
| rs369797074 | 2:40,342,469 | C/A | — | uncertain significance |
| rs2466099080 | 2:40,342,485 | T/C | — | uncertain significance |
| rs375243952 | 2:40,342,494 | G/A | — | uncertain significance |
| rs142336728 | 2:40,342,530 | G/T | — | benign |
| rs201920666 | 2:40,342,545 | C/T | — | uncertain significance |
| rs148215685 | 2:40,342,600 | G/T | — | benign |
| rs201804871 | 2:40,342,607 | G/A | — | uncertain significance |
| rs775979049 | 2:40,342,628 | T/A | — | uncertain significance |
| rs184171310 | 2:40,342,690 | C/T | — | benign |
| rs772700481 | 2:40,342,731 | A/G | — | uncertain significance |
| rs762266072 | 2:40,366,614 | G/C | — | uncertain significance |
| rs770080096 | 2:40,366,635 | G/A | — | likely benign |
| rs756917419 | 2:40,366,712 | C/T | — | uncertain significance |
| rs565060338 | 2:40,366,757 | C/A | — | uncertain significance |
| rs139842575 | 2:40,366,803 | G/C | — | uncertain significance |
| rs754394802 | 2:40,387,918 | G/A | — | likely benign |
| rs149826585 | 2:40,387,920 | T/C | — | uncertain significance |
| rs200171566 | 2:40,387,999 | A/T | — | likely benign |
| rs752904012 | 2:40,392,074 | G/A | — | uncertain significance |
| rs148845964 | 2:40,392,123 | G/A | — | likely benign |
| rs7607992 | 2:40,394,879 | C/G | intron variant | — |
| rs404005 | 2:40,396,078 | C/T | intron variant | — |
| rs5556 | 2:40,404,966 | C/T | — | likely benign |
| rs141503679 | 2:40,405,543 | C/G | — | uncertain significance |
| rs770480542 | 2:40,405,626 | T/C | — | uncertain significance |
| rs5830612 | 2:40,419,506 | T/A | — | — |
| rs191647943 | 2:40,435,267 | C/T | intron variant | — |
| rs113641606 | 2:40,444,081 | T/C | intron variant | — |
| rs1012311 | 2:40,475,022 | G/C | intron variant | — |
| rs3749056 | 2:40,484,945 | T/C | downstream gene variant | — |
| rs148836335 | 2:40,507,187 | G/C | intron variant | — |
| rs17025867 | 2:40,578,559 | G/A | intron variant | — |
| rs372069829 | 2:40,655,645 | A/C | — | uncertain significance |
| rs774752331 | 2:40,655,708 | G/A | — | likely benign |
| rs573962918 | 2:40,655,764 | T/C | — | uncertain significance |
| rs146455378 | 2:40,655,787 | G/C | — | uncertain significance |
| rs112664957 | 2:40,655,854 | A/G | — | uncertain significance |
| rs199581012 | 2:40,655,858 | G/A | — | benign |
| rs139164260 | 2:40,655,875 | A/T | — | uncertain significance |
| rs139267501 | 2:40,655,881 | G/T | — | uncertain significance |
| rs746331835 | 2:40,655,887 | C/T | — | uncertain significance |
| rs202132710 | 2:40,655,940 | T/C | — | uncertain significance |
| rs373167067 | 2:40,656,106 | T/C | — | uncertain significance |
| rs1313875125 | 2:40,656,180 | C/T | — | uncertain significance |
| rs377398630 | 2:40,656,205 | C/G | — | uncertain significance |
| rs146444558 | 2:40,656,219 | G/T | — | uncertain significance |
| rs1576422493 | 2:40,656,413 | C/T | — | likely benign |
| rs72558065 | 2:40,656,443 | C/A | — | uncertain significance |
| rs2467387741 | 2:40,656,459 | T/A | — | uncertain significance |
| rs758440605 | 2:40,656,505 | C/A | — | uncertain significance |
| rs2467390534 | 2:40,656,576 | C/A | — | uncertain significance |
| rs754267998 | 2:40,656,690 | A/G | — | uncertain significance |
| rs771516562 | 2:40,656,787 | T/C | — | uncertain significance |
| rs2467399957 | 2:40,657,038 | C/T | — | uncertain significance |
| rs140571640 | 2:40,657,138 | T/C | — | uncertain significance |
| rs199547343 | 2:40,657,398 | C/G | — | uncertain significance |
| rs747307904 | 2:40,657,414 | T/C | — | uncertain significance |
| rs115564742 | 2:40,657,416 | T/A | — | likely benign |
| rs190197089 | 2:40,659,665 | C/T | intron variant | — |
| rs4629203 | 2:40,662,546 | T/C | regulatory region variant | — |
| rs78124249 | 2:40,686,588 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.