KCNN3
potassium calcium-activated channel subfamily N member 3
Summary
Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs573939130 | 1:154,670,793 | A/C | — | — |
| rs199920438 | 1:154,680,476 | C/T | — | likely benign |
| rs764160677 | 1:154,680,502 | C/A | — | uncertain significance |
| rs76925601 | 1:154,680,507 | A/G | — | conflicting classifications of pathogenicity |
| rs2101754196 | 1:154,680,541 | C/A | — | uncertain significance |
| rs2526969562 | 1:154,680,551 | G/A | — | likely benign |
| rs374192381 | 1:154,680,559 | C/G | — | likely benign |
| rs2101754269 | 1:154,680,568 | C/T | — | uncertain significance |
| rs2526969823 | 1:154,680,589 | G/A | — | uncertain significance |
| rs2526970302 | 1:154,680,676 | T/G | — | uncertain significance |
| rs532457510 | 1:154,687,083 | T/G | — | — |
| rs2526997374 | 1:154,687,395 | T/C | — | uncertain significance |
| rs1213266406 | 1:154,687,398 | C/T | — | uncertain significance |
| rs2526997515 | 1:154,687,442 | C/T | — | uncertain significance |
| rs2526997536 | 1:154,687,452 | G/A | — | uncertain significance |
| rs180695794 | 1:154,695,257 | G/T | intron variant | — |
| rs1700385787 | 1:154,695,333 | G/A | — | uncertain significance |
| rs1557944131 | 1:154,698,441 | G/A | — | uncertain significance |
| rs2101782564 | 1:154,698,487 | C/T | — | pathogenic |
| rs2101792603 | 1:154,705,498 | C/G | — | uncertain significance |
| rs557553959 | 1:154,705,524 | G/T | — | likely benign |
| rs112506792 | 1:154,709,540 | A/C | — | benign |
| rs2524731008 | 1:154,744,449 | A/G | — | uncertain significance |
| rs193920929 | 1:154,744,450 | C/A | — | uncertain significance |
| rs1648579950 | 1:154,744,463 | C/T | — | uncertain significance |
| rs148925371 | 1:154,744,467 | C/T | — | likely benign |
| rs2524731197 | 1:154,744,523 | G/C | — | uncertain significance |
| rs1648583329 | 1:154,744,528 | G/C | — | uncertain significance |
| rs1648584138 | 1:154,744,548 | T/C | — | uncertain significance |
| rs2524731280 | 1:154,744,550 | A/G | — | likely pathogenic |
| rs777143484 | 1:154,744,556 | C/T | — | uncertain significance |
| rs2524731301 | 1:154,744,562 | T/C | — | uncertain significance |
| rs1571259807 | 1:154,744,593 | T/A | — | pathogenic |
| rs1408630129 | 1:154,744,640 | C/T | — | uncertain significance |
| rs766922504 | 1:154,744,739 | G/A | — | uncertain significance |
| rs76610518 | 1:154,744,758 | C/G | — | likely benign |
| rs144038732 | 1:154,744,780 | G/A | — | likely benign |
| rs2524731938 | 1:154,744,799 | C/G | — | uncertain significance |
| rs1051614 | 1:154,744,807 | C/G | — | benign |
| rs761545559 | 1:154,744,823 | G/C | — | uncertain significance |
| rs1571260285 | 1:154,744,850 | C/T | — | pathogenic |
| rs1131820 | 1:154,744,852 | A/G | synonymous variant | benign |
| rs6426929 | 1:154,750,989 | G/A | regulatory region variant | — |
| rs6691316 | 1:154,754,194 | C/T | intron variant | — |
| rs189971968 | 1:154,756,057 | A/C | intron variant | — |
| rs883319 | 1:154,758,422 | C/T | intron variant | — |
| rs115466223 | 1:154,763,715 | A/C | regulatory region variant | — |
| rs1702176 | 1:154,777,157 | G/A | intron variant | — |
| rs757374968 | 1:154,794,632 | C/T | — | uncertain significance |
| rs765321692 | 1:154,794,641 | G/A | — | uncertain significance |
| rs1557993123 | 1:154,794,648 | A/G | — | uncertain significance |
| rs11264273 | 1:154,809,253 | C/T | intron variant | — |
| rs11588763 | 1:154,813,584 | C/T | intron variant | — |
| rs6666258 | 1:154,814,268 | G/T | — | — |
| rs13376333 | 1:154,814,353 | C/T | intron variant | — |
| rs2878411 | 1:154,823,545 | C/G | — | — |
| rs1218582 | 1:154,834,183 | G/A | regulatory region variant | — |
| rs760728518 | 1:154,841,531 | G/T | — | uncertain significance |
| rs1571353663 | 1:154,841,636 | T/C | — | pathogenic |
| rs771073279 | 1:154,841,754 | G/A | — | likely benign |
| rs776341018 | 1:154,841,759 | G/A | — | uncertain significance |
| rs775661147 | 1:154,841,770 | C/T | — | uncertain significance |
| rs1245831928 | 1:154,841,791 | G/A | — | uncertain significance |
| rs749672556 | 1:154,841,830 | T/C | — | uncertain significance |
| rs2525028154 | 1:154,841,840 | C/T | — | uncertain significance |
| rs2525028211 | 1:154,841,849 | G/C | — | uncertain significance |
| rs1653083052 | 1:154,841,850 | G/C | — | uncertain significance |
| rs764576115 | 1:154,841,937 | G/T | — | uncertain significance |
| rs750750797 | 1:154,841,952 | G/C | — | uncertain significance |
| rs1653087089 | 1:154,841,971 | T/G | — | uncertain significance |
| rs372419327 | 1:154,841,976 | G/T | — | likely benign |
| rs759272043 | 1:154,841,981 | G/A | — | uncertain significance |
| rs2525028762 | 1:154,842,002 | T/C | — | uncertain significance |
| rs143130189 | 1:154,842,107 | G/A | — | uncertain significance |
| rs1277660019 | 1:154,842,191 | G/A | — | uncertain significance |
| rs768411824 | 1:154,842,243 | A/C | — | likely benign |
| rs776143138 | 1:154,842,244 | A/T | — | likely benign |
| rs747696814 | 1:154,842,250 | G/T | — | likely benign |
| rs772796174 | 1:154,842,253 | G/T | — | likely benign |
| rs1437869897 | 1:154,842,268 | G/A | — | likely benign |
| rs189948752 | 1:154,842,302 | G/A | — | likely benign |
| rs1005929642 | 1:154,842,407 | C/G | — | uncertain significance |
| rs775784556 | 1:154,842,412 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.