KCNH4
potassium voltage-gated channel subfamily H member 4
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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28800269 | 17:40,310,861 | T/C | — | — |
| rs2544116277 | 17:40,312,062 | T/C | — | uncertain significance |
| rs755934067 | 17:40,312,068 | G/A | — | uncertain significance |
| rs141329225 | 17:40,312,159 | C/G | — | uncertain significance |
| rs764618108 | 17:40,312,167 | T/C | — | uncertain significance |
| rs936721818 | 17:40,312,189 | T/C | — | uncertain significance |
| rs138917401 | 17:40,312,349 | G/A | — | benign |
| rs1396982344 | 17:40,312,399 | T/C | — | uncertain significance |
| rs760437588 | 17:40,312,408 | G/A | — | uncertain significance |
| rs2544116731 | 17:40,312,437 | T/A | — | uncertain significance |
| rs778322670 | 17:40,315,266 | C/T | — | uncertain significance |
| rs775778561 | 17:40,315,652 | T/C | — | uncertain significance |
| rs763026311 | 17:40,315,657 | A/C | — | uncertain significance |
| rs150770534 | 17:40,315,660 | G/A | — | uncertain significance |
| rs750965904 | 17:40,315,682 | G/A | — | uncertain significance |
| rs377053126 | 17:40,315,706 | G/C | — | uncertain significance |
| rs777823166 | 17:40,315,709 | G/C | — | uncertain significance |
| rs548584265 | 17:40,315,747 | G/C | — | uncertain significance |
| rs558665716 | 17:40,315,837 | C/T | — | uncertain significance |
| rs2079766881 | 17:40,315,847 | C/T | — | uncertain significance |
| rs746028334 | 17:40,315,939 | G/A | — | uncertain significance |
| rs377112664 | 17:40,316,158 | C/T | — | uncertain significance |
| rs201984974 | 17:40,316,159 | G/A | — | uncertain significance |
| rs753817153 | 17:40,317,522 | C/T | — | uncertain significance |
| rs1177175576 | 17:40,317,703 | C/G | — | uncertain significance |
| rs146559611 | 17:40,318,398 | C/T | — | uncertain significance |
| rs762935659 | 17:40,318,528 | T/C | — | uncertain significance |
| rs201523967 | 17:40,321,553 | C/T | — | uncertain significance |
| rs148024957 | 17:40,321,568 | C/T | — | uncertain significance |
| rs757174422 | 17:40,321,587 | G/A | — | uncertain significance |
| rs2544123850 | 17:40,321,629 | A/G | — | uncertain significance |
| rs766105686 | 17:40,321,680 | C/T | — | uncertain significance |
| rs2544124302 | 17:40,322,124 | C/T | — | uncertain significance |
| rs368992196 | 17:40,322,139 | G/A | — | uncertain significance |
| rs2544124328 | 17:40,322,142 | C/A | — | uncertain significance |
| rs369685674 | 17:40,322,247 | C/T | — | uncertain significance |
| rs2544125164 | 17:40,323,820 | A/C | — | uncertain significance |
| rs201966056 | 17:40,323,913 | G/A | — | uncertain significance |
| rs2079830386 | 17:40,323,974 | G/A | — | uncertain significance |
| rs141831518 | 17:40,328,119 | C/T | — | uncertain significance |
| rs537747952 | 17:40,328,122 | G/A | — | uncertain significance |
| rs540691706 | 17:40,328,211 | G/A | — | likely benign |
| rs141418259 | 17:40,328,231 | C/T | — | uncertain significance |
| rs1451729582 | 17:40,330,135 | C/T | — | likely benign |
| rs555278285 | 17:40,330,170 | C/T | — | uncertain significance |
| rs754131743 | 17:40,330,224 | C/A | — | uncertain significance |
| rs1376152961 | 17:40,330,447 | A/G | — | uncertain significance |
| rs367737130 | 17:40,330,489 | G/A | — | uncertain significance |
| rs200825480 | 17:40,330,841 | G/C | — | uncertain significance |
| rs1031972838 | 17:40,330,924 | C/T | — | uncertain significance |
| rs780307377 | 17:40,330,939 | A/G | — | uncertain significance |
| rs1324370058 | 17:40,331,009 | G/A | — | uncertain significance |
| rs755243608 | 17:40,331,021 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.