KCNB2
potassium voltage-gated channel subfamily B member 2
Summary
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs349358 | 8:73,451,475 | C/A | — | — |
| rs2451034 | 8:73,479,723 | G/A | — | benign |
| rs1806646657 | 8:73,480,013 | G/A | — | uncertain significance |
| rs2487564423 | 8:73,480,050 | T/C | — | likely benign |
| rs779425555 | 8:73,480,051 | A/T | — | uncertain significance |
| rs768079183 | 8:73,480,068 | C/G | — | uncertain significance |
| rs34259157 | 8:73,480,125 | G/T | — | benign |
| rs41272419 | 8:73,480,140 | C/G | — | benign |
| rs1806652237 | 8:73,480,178 | A/G | — | uncertain significance |
| rs747695999 | 8:73,480,285 | G/A | — | conflicting classifications of pathogenicity |
| rs2487565309 | 8:73,480,541 | C/T | — | uncertain significance |
| rs563763403 | 8:73,625,004 | C/A | — | — |
| rs2247572 | 8:73,633,028 | C/T | intron variant | — |
| rs180706181 | 8:73,663,884 | G/C | coding sequence variant | — |
| rs2919408 | 8:73,739,252 | G/A | — | risk factor |
| rs10504543 | 8:73,778,642 | G/A | intron variant | — |
| rs577685254 | 8:73,832,272 | G/T | — | — |
| rs3735829 | 8:73,848,139 | A/T | — | benign |
| rs142185006 | 8:73,848,450 | A/G | — | uncertain significance |
| rs764537038 | 8:73,848,457 | C/A | — | uncertain significance |
| rs867030236 | 8:73,848,509 | C/T | — | uncertain significance |
| rs1806905258 | 8:73,848,674 | G/A | — | uncertain significance |
| rs2487598161 | 8:73,848,795 | G/A | — | uncertain significance |
| rs770363006 | 8:73,849,034 | G/A | — | likely benign |
| rs754416306 | 8:73,849,241 | C/G | — | uncertain significance |
| rs1806919541 | 8:73,849,250 | T/C | — | uncertain significance |
| rs148143740 | 8:73,849,332 | G/A | — | uncertain significance |
| rs146297405 | 8:73,849,465 | C/T | — | benign |
| rs373737384 | 8:73,849,496 | G/T | — | uncertain significance |
| rs1480735255 | 8:73,849,511 | G/A | — | uncertain significance |
| rs769931537 | 8:73,849,533 | G/T | — | uncertain significance |
| rs763584250 | 8:73,849,534 | C/G | — | likely benign |
| rs767830715 | 8:73,849,539 | C/T | — | uncertain significance |
| rs16938507 | 8:73,849,560 | A/G | — | benign |
| rs758297898 | 8:73,849,587 | C/T | — | likely benign |
| rs775648356 | 8:73,849,644 | G/A | — | uncertain significance |
| rs753436324 | 8:73,849,652 | C/A | — | uncertain significance |
| rs1226298553 | 8:73,849,688 | C/T | — | uncertain significance |
| rs199530102 | 8:73,849,760 | G/A | — | uncertain significance |
| rs142525254 | 8:73,849,768 | C/A | — | benign |
| rs752480489 | 8:73,849,917 | C/T | — | uncertain significance |
| rs573131458 | 8:73,850,037 | T/C | — | uncertain significance |
| rs1272340113 | 8:73,850,049 | G/A | — | uncertain significance |
| rs755487896 | 8:73,850,073 | A/G | — | uncertain significance |
| rs748627225 | 8:73,850,078 | A/G | — | uncertain significance |
| rs756573146 | 8:73,850,080 | C/A | — | uncertain significance |
| rs138896608 | 8:73,850,157 | C/T | — | likely benign |
| rs11782118 | 8:73,850,203 | G/A | — | benign |
| rs767711810 | 8:73,850,264 | C/G | — | uncertain significance |
| rs779094874 | 8:73,850,291 | A/G | — | uncertain significance |
| rs2487603653 | 8:73,850,295 | G/C | — | uncertain significance |
| rs757976810 | 8:73,850,303 | C/T | — | uncertain significance |
| rs567445185 | 8:73,850,309 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.