KCNMB2
potassium calcium-activated channel subfamily M regulatory beta subunit 2
Summary
MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9637454 | 3:178,257,562 | G/A | intron variant | — |
| rs2054396 | 3:178,262,690 | G/C | — | — |
| rs6766905 | 3:178,314,124 | T/A | intron variant | — |
| rs191404410 | 3:178,320,355 | C/G | — | — |
| rs189923567 | 3:178,335,719 | C/T | intron variant | — |
| rs2054399 | 3:178,341,582 | G/A | intron variant | — |
| rs9855794 | 3:178,367,807 | T/C | intron variant | — |
| rs13100616 | 3:178,399,551 | A/G | intron variant | — |
| rs9290663 | 3:178,429,939 | A/T | intron variant | — |
| rs2473650120 | 3:178,543,384 | A/G | — | uncertain significance |
| rs145640012 | 3:178,545,980 | A/T | — | uncertain significance |
| rs575178662 | 3:178,546,090 | G/A | — | uncertain significance |
| rs2473676193 | 3:178,560,448 | A/G | — | uncertain significance |
| rs1335861573 | 3:178,560,462 | G/A | — | uncertain significance |
| rs6443583 | 3:178,560,581 | A/C | — | benign |
| rs760825316 | 3:178,560,721 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.