ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs730313 | 1:160,121,836 | G/A | — | benign |
| rs1420727048 | 1:160,121,837 | C/T | — | uncertain significance |
| rs745547071 | 1:160,121,862 | C/T | — | uncertain significance |
| rs146860131 | 1:160,121,885 | C/A | — | benign |
| rs760437076 | 1:160,121,976 | T/A | — | uncertain significance |
| rs150340260 | 1:160,122,971 | C/T | — | uncertain significance |
| rs754624697 | 1:160,122,989 | C/G | — | uncertain significance |
| rs755101148 | 1:160,124,845 | A/G | — | uncertain significance |
| rs774454907 | 1:160,124,872 | G/A | — | uncertain significance |
| rs1185885403 | 1:160,124,904 | A/C | — | uncertain significance |
| rs140019547 | 1:160,124,942 | C/T | — | benign |
| rs2524932595 | 1:160,125,004 | A/G | — | uncertain significance |
| rs772367102 | 1:160,125,862 | G/A | — | uncertain significance |
| rs368953880 | 1:160,128,788 | A/C | — | benign |
| rs759224176 | 1:160,128,808 | G/A | — | uncertain significance |
| rs1351430371 | 1:160,128,856 | A/G | — | uncertain significance |
| rs144774517 | 1:160,128,901 | G/A | — | uncertain significance |
| rs140151069 | 1:160,129,232 | C/G | — | uncertain significance |
| rs138774641 | 1:160,133,973 | C/T | — | uncertain significance |
| rs1338908224 | 1:160,134,043 | C/T | — | likely benign |
| rs190709956 | 1:160,136,297 | C/T | intron variant | — |
| rs143083729 | 1:160,136,351 | C/T | — | uncertain significance |
| rs367924298 | 1:160,136,352 | G/A | — | uncertain significance |
| rs369966942 | 1:160,136,382 | C/T | — | uncertain significance |
| rs149462135 | 1:160,136,430 | G/A | — | uncertain significance |
| rs142592649 | 1:160,136,456 | G/A | — | uncertain significance |
| rs187960925 | 1:160,136,483 | G/A | — | uncertain significance |
| rs138346909 | 1:160,136,493 | C/T | — | uncertain significance |
| rs373156290 | 1:160,136,803 | G/A | — | likely benign |
| rs759637220 | 1:160,137,101 | C/T | — | uncertain significance |
| rs144013520 | 1:160,137,157 | C/A | — | uncertain significance |
| rs2524965699 | 1:160,137,186 | C/A | — | uncertain significance |
| rs774564912 | 1:160,141,056 | C/T | — | uncertain significance |
| rs772331708 | 1:160,141,057 | G/A | — | likely benign |
| rs143272416 | 1:160,141,069 | C/T | — | uncertain significance |
| rs200739116 | 1:160,141,123 | G/A | — | uncertain significance |
| rs16831482 | 1:160,141,171 | T/G | — | benign |
| rs137950481 | 1:160,141,195 | A/G | — | uncertain significance |
| rs752449048 | 1:160,141,210 | G/T | — | uncertain significance |
| rs779267926 | 1:160,141,215 | G/T | — | uncertain significance |
| rs1019619217 | 1:160,141,438 | T/C | — | uncertain significance |
| rs79938119 | 1:160,141,525 | A/G | — | benign |
| rs376255645 | 1:160,141,531 | G/C | — | uncertain significance |
| rs2524983698 | 1:160,143,375 | T/C | — | uncertain significance |
| rs758538043 | 1:160,143,402 | C/T | — | uncertain significance |
| rs753890390 | 1:160,143,420 | A/C | — | uncertain significance |
| rs2524984271 | 1:160,143,450 | A/C | — | uncertain significance |
| rs769485753 | 1:160,143,467 | G/A | — | uncertain significance |
| rs144511687 | 1:160,143,473 | C/T | — | uncertain significance |
| rs573699765 | 1:160,143,991 | C/G | — | uncertain significance |
| rs779083308 | 1:160,144,048 | G/C | — | uncertain significance |
| rs541186408 | 1:160,144,381 | G/A | — | uncertain significance |
| rs1181656184 | 1:160,144,516 | A/G | — | uncertain significance |
| rs370915731 | 1:160,145,899 | A/G | — | uncertain significance |
| rs751487564 | 1:160,146,032 | A/C | — | uncertain significance |
| rs145873902 | 1:160,146,341 | A/T | — | uncertain significance |
| rs1249431699 | 1:160,146,369 | T/C | — | uncertain significance |
| rs1206202963 | 1:160,147,311 | A/T | — | uncertain significance |
| rs764662453 | 1:160,147,443 | G/A | — | uncertain significance |
| rs749257961 | 1:160,151,541 | T/C | — | uncertain significance |
| rs1242858276 | 1:160,151,579 | A/G | — | uncertain significance |
| rs367919964 | 1:160,151,730 | T/A | — | uncertain significance |
| rs1312715782 | 1:160,151,757 | C/T | — | likely benign |
| rs973717352 | 1:160,151,790 | A/T | — | uncertain significance |
| rs757109547 | 1:160,151,796 | G/A | — | uncertain significance |
| rs146097961 | 1:160,156,086 | C/A | — | uncertain significance |
| rs1171980450 | 1:160,156,482 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.