KCNN2
potassium calcium-activated channel subfamily N member 2
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. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13175113 | 5:113,543,736 | T/G | intergenic variant | — |
| rs4705650 | 5:113,584,688 | A/G | upstream gene variant | — |
| rs6860867 | 5:113,657,556 | G/A | intergenic variant | — |
| rs535426653 | 5:113,681,761 | G/A | — | — |
| rs2531548394 | 5:113,697,690 | C/T | — | uncertain significance |
| rs1039632660 | 5:113,697,752 | G/C | — | likely benign |
| rs1031967468 | 5:113,698,150 | C/T | — | uncertain significance |
| rs1030491898 | 5:113,698,165 | C/T | — | likely benign |
| rs2531550732 | 5:113,698,167 | T/G | — | uncertain significance |
| rs544525765 | 5:113,698,189 | C/T | — | uncertain significance |
| rs942248561 | 5:113,698,190 | G/T | — | likely benign |
| rs373945997 | 5:113,698,264 | A/C | — | uncertain significance |
| rs1561586662 | 5:113,698,321 | G/C | — | uncertain significance |
| rs1296103242 | 5:113,698,473 | A/G | — | uncertain significance |
| rs766194128 | 5:113,698,506 | C/G | — | uncertain significance |
| rs1211833036 | 5:113,698,510 | C/T | — | uncertain significance |
| rs756620223 | 5:113,698,534 | G/T | — | uncertain significance |
| rs772670260 | 5:113,698,554 | G/C | — | uncertain significance |
| rs1554083355 | 5:113,698,560 | G/C | — | uncertain significance |
| rs750469115 | 5:113,698,579 | C/T | — | uncertain significance |
| rs574107960 | 5:113,698,618 | C/G | — | uncertain significance |
| rs368550277 | 5:113,698,674 | G/T | — | uncertain significance |
| rs967646810 | 5:113,698,678 | C/T | — | uncertain significance |
| rs1164671951 | 5:113,698,702 | A/G | — | uncertain significance |
| rs374137805 | 5:113,698,740 | A/C | — | uncertain significance |
| rs1310126652 | 5:113,698,755 | G/A | — | uncertain significance |
| rs1313156829 | 5:113,698,770 | G/C | — | uncertain significance |
| rs759730265 | 5:113,698,776 | G/C | — | uncertain significance |
| rs2531554809 | 5:113,698,807 | A/G | — | uncertain significance |
| rs767264485 | 5:113,698,831 | A/G | — | uncertain significance |
| rs1307425316 | 5:113,698,836 | G/A | — | uncertain significance |
| rs1314537590 | 5:113,698,840 | A/G | — | uncertain significance |
| rs753859198 | 5:113,698,851 | C/T | — | likely benign |
| rs2531554955 | 5:113,698,867 | A/G | — | uncertain significance |
| rs2531555021 | 5:113,698,890 | A/G | — | uncertain significance |
| rs774833524 | 5:113,698,952 | C/A | — | pathogenic |
| rs2531557593 | 5:113,699,673 | T/C | — | uncertain significance |
| rs144098012 | 5:113,699,683 | C/T | — | likely benign |
| rs138572352 | 5:113,699,687 | A/G | — | uncertain significance |
| rs716845 | 5:113,736,416 | G/A | intron variant | — |
| rs139630306 | 5:113,740,151 | A/G | — | uncertain significance |
| rs1253410807 | 5:113,740,215 | A/G | — | uncertain significance |
| rs2531642978 | 5:113,740,240 | C/T | — | uncertain significance |
| rs2531642984 | 5:113,740,241 | C/T | — | uncertain significance |
| rs2531643219 | 5:113,740,307 | C/G | — | uncertain significance |
| rs2531643404 | 5:113,740,415 | T/C | — | conflicting classifications of pathogenicity |
| rs337711 | 5:113,748,571 | C/T | regulatory region variant | — |
| rs2531800614 | 5:113,798,816 | T/C | — | uncertain significance |
| rs1761282406 | 5:113,798,821 | T/G | — | conflicting classifications of pathogenicity |
| rs1761282515 | 5:113,798,826 | A/G | — | likely pathogenic |
| rs1761282724 | 5:113,798,828 | G/A | — | pathogenic |
| rs1185872337 | 5:113,798,856 | G/A | — | uncertain significance |
| rs2150115220 | 5:113,798,879 | G/C | — | likely pathogenic |
| rs17136627 | 5:113,798,986 | C/T | intron variant | — |
| rs1761822790 | 5:113,808,769 | C/G | — | pathogenic |
| rs1233079885 | 5:113,808,802 | C/A | — | uncertain significance |
| rs1761825165 | 5:113,808,863 | T/C | — | likely pathogenic |
| rs1747594790 | 5:113,822,787 | T/C | — | pathogenic |
| rs2531615352 | 5:113,822,826 | A/G | — | uncertain significance |
| rs74533652 | 5:113,822,832 | A/G | — | uncertain significance |
| rs2531615398 | 5:113,822,844 | A/T | — | uncertain significance |
| rs370602863 | 5:113,831,705 | C/T | — | likely benign |
| rs80303410 | 5:113,831,756 | C/T | — | benign |
| rs764225522 | 5:113,831,770 | T/G | — | uncertain significance |
| rs377469782 | 5:113,831,811 | T/C | — | uncertain significance |
| rs774628560 | 5:113,831,815 | G/A | — | likely benign |
| rs375940501 | 5:113,831,835 | C/T | — | uncertain significance |
| rs1335410914 | 5:113,831,847 | A/G | — | conflicting classifications of pathogenicity |
| rs2531646617 | 5:113,831,865 | T/C | — | uncertain significance |
| rs1364934 | 5:113,832,263 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.