ATP1B3
ATPase Na+/K+ transporting subunit beta 3
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 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs566342270 | 3:141,595,671 | A/C | — | uncertain significance |
| rs11721024 | 3:141,602,770 | G/A | — | — |
| rs79390223 | 3:141,611,526 | C/T | intron variant | — |
| rs775908015 | 3:141,622,522 | C/T | — | uncertain significance |
| rs149675336 | 3:141,622,570 | G/A | — | uncertain significance |
| rs377366509 | 3:141,626,081 | C/A | — | likely benign |
| rs3804772 | 3:141,634,056 | G/A | regulatory region variant | — |
| rs375814352 | 3:141,640,829 | T/C | — | likely benign |
| rs9880808 | 3:141,642,781 | C/A | — | — |
| rs2472609158 | 3:141,644,428 | C/G | — | uncertain significance |
| rs141791067 | 3:141,644,512 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.