KCNIP2
potassium voltage-gated channel interacting protein 2
Summary
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2539505884 | 10:103,587,448 | T/G | — | uncertain significance |
| rs2539506399 | 10:103,587,505 | T/C | — | uncertain significance |
| rs149050202 | 10:103,587,686 | C/T | — | uncertain significance |
| rs2065803507 | 10:103,587,750 | C/T | — | uncertain significance |
| rs2539516889 | 10:103,588,209 | G/C | — | uncertain significance |
| rs72546683 | 10:103,588,870 | G/A | — | uncertain significance |
| rs1219942084 | 10:103,589,676 | C/G | — | uncertain significance |
| rs2539557609 | 10:103,590,881 | G/T | — | uncertain significance |
| rs78142636 | 10:103,601,727 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.