KCNIP4
potassium voltage-gated channel interacting protein 4
Summary
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2322688 | 4:20,751,278 | A/G | — | benign |
| rs767393802 | 4:20,751,304 | T/C | — | uncertain significance |
| rs761557616 | 4:20,760,482 | G/T | — | uncertain significance |
| rs148511080 | 4:20,760,520 | A/G | — | benign |
| rs9799795 | 4:20,831,806 | C/A | regulatory region variant | — |
| rs3765121 | 4:20,852,166 | A/G | — | benign |
| rs3765122 | 4:20,852,244 | A/G | — | benign |
| rs756139264 | 4:20,852,285 | C/T | — | uncertain significance |
| rs2547296561 | 4:20,852,287 | C/T | — | uncertain significance |
| rs1158970 | 4:20,866,469 | C/T | intron variant | — |
| rs933408671 | 4:20,884,272 | A/G | — | uncertain significance |
| rs4414947 | 4:21,088,559 | T/A | — | — |
| rs1023721 | 4:21,206,490 | T/A | intron variant | — |
| rs73249524 | 4:21,261,163 | C/T | intron variant | — |
| rs16870989 | 4:21,386,764 | T/C | — | — |
| rs145489027 | 4:21,391,194 | G/A | intron variant | — |
| rs6448050 | 4:21,407,759 | C/T | intron variant | — |
| rs11942476 | 4:21,455,257 | C/G | intron variant | — |
| rs358592 | 4:21,476,990 | C/T | intron variant | — |
| rs16871289 | 4:21,511,383 | C/T | intron variant | — |
| rs1604805 | 4:21,571,087 | T/C | intron variant | — |
| rs148603992 | 4:21,618,352 | C/T | downstream gene variant | — |
| rs563607324 | 4:21,645,181 | G/C | — | — |
| rs1577866022 | 4:21,699,045 | T/A | — | uncertain significance |
| rs562019332 | 4:21,711,697 | C/T | — | — |
| rs28448822 | 4:21,787,065 | A/T | — | — |
| rs16871968 | 4:21,851,695 | T/C | intron variant | — |
| rs60799144 | 4:21,852,767 | A/T | — | — |
| rs6820986 | 4:21,913,425 | T/A | intron variant | — |
| rs2221929 | 4:21,925,022 | G/A | — | — |
| rs1913329 | 4:21,929,394 | T/G | — | — |
| rs4467547 | 4:21,945,933 | G/A | — | — |
| rs377005581 | 4:21,950,239 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.