KCNJ4
potassium inwardly rectifying channel subfamily J member 4
Summary
Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1063134 | 22:38,822,698 | C/T | 3 prime UTR variant | benign |
| rs749215036 | 22:38,822,906 | G/A | — | uncertain significance |
| rs779001054 | 22:38,822,914 | C/G | — | uncertain significance |
| rs756673649 | 22:38,822,951 | G/A | — | uncertain significance |
| rs879187515 | 22:38,822,954 | G/A | — | uncertain significance |
| rs757178172 | 22:38,822,967 | C/T | — | uncertain significance |
| rs196059 | 22:38,823,136 | T/C | — | benign |
| rs766421750 | 22:38,823,169 | G/C | — | uncertain significance |
| rs2145929841 | 22:38,823,273 | T/A | — | uncertain significance |
| rs1448638523 | 22:38,823,426 | C/T | — | uncertain significance |
| rs193920820 | 22:38,823,552 | G/A | — | uncertain significance |
| rs772182963 | 22:38,823,555 | C/A | — | uncertain significance |
| rs1312744628 | 22:38,823,813 | C/T | — | uncertain significance |
| rs200014823 | 22:38,823,828 | C/T | — | uncertain significance |
| rs750087094 | 22:38,823,851 | G/A | — | uncertain significance |
| rs2267386 | 22:38,832,112 | G/A | regulatory region variant | — |
| rs196064 | 22:38,851,392 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.