ATP1B2
ATPase Na+/K+ transporting subunit beta 2
Summary
The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72829446 | 17:7,552,123 | C/T | upstream gene variant | — |
| rs1624085 | 17:7,553,743 | G/T | — | — |
| rs1050528 | 17:7,554,536 | T/C | 5 prime UTR variant | — |
| rs191963994 | 17:7,555,668 | G/A | intron variant | — |
| rs755969286 | 17:7,556,806 | G/A | — | uncertain significance |
| rs2150978196 | 17:7,557,372 | T/A | — | uncertain significance |
| rs1052190576 | 17:7,557,375 | A/C | — | uncertain significance |
| rs757566775 | 17:7,557,411 | C/T | — | uncertain significance |
| rs139562417 | 17:7,557,429 | G/A | — | uncertain significance |
| rs542414922 | 17:7,557,495 | G/A | — | uncertain significance |
| rs142627831 | 17:7,557,511 | T/C | — | uncertain significance |
| rs764180280 | 17:7,557,561 | A/C | — | uncertain significance |
| rs1642764 | 17:7,557,834 | C/G | — | — |
| rs2508779636 | 17:7,557,947 | T/C | — | uncertain significance |
| rs765168793 | 17:7,557,959 | A/G | — | uncertain significance |
| rs375329674 | 17:7,558,858 | C/T | — | uncertain significance |
| rs754801136 | 17:7,558,869 | G/A | — | uncertain significance |
| rs921830582 | 17:7,559,178 | C/T | — | uncertain significance |
| rs1641512 | 17:7,559,462 | G/A | 3 prime UTR variant | — |
| rs1641511 | 17:7,559,677 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.