ASIC2
acid sensing ion channel subunit 2
Summary
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28936 | 17:31,340,390 | T/C | 3 prime UTR variant | — |
| rs139534895 | 17:31,341,005 | G/A | — | uncertain significance |
| rs201100877 | 17:31,341,017 | G/A | — | uncertain significance |
| rs994779106 | 17:31,341,024 | G/C | — | uncertain significance |
| rs375691699 | 17:31,341,027 | G/A | — | uncertain significance |
| rs367596005 | 17:31,341,065 | G/T | — | uncertain significance |
| rs780407455 | 17:31,343,015 | C/T | — | uncertain significance |
| rs536901099 | 17:31,343,020 | T/C | — | uncertain significance |
| rs768371253 | 17:31,344,633 | T/C | — | uncertain significance |
| rs1337592623 | 17:31,344,643 | G/A | — | uncertain significance |
| rs2141899288 | 17:31,350,935 | G/C | — | uncertain significance |
| rs148985870 | 17:31,351,023 | G/A | — | uncertain significance |
| rs2508824562 | 17:31,352,994 | G/A | — | uncertain significance |
| rs193921140 | 17:31,355,269 | G/T | — | uncertain significance |
| rs1217794040 | 17:31,355,271 | A/G | — | uncertain significance |
| rs138351635 | 17:31,355,299 | T/C | — | uncertain significance |
| rs145022990 | 17:31,355,319 | A/G | — | uncertain significance |
| rs3025242 | 17:31,355,414 | C/T | — | benign |
| rs17808461 | 17:31,393,702 | C/G | — | — |
| rs2508903013 | 17:31,415,892 | G/A | — | uncertain significance |
| rs149305028 | 17:31,415,989 | T/G | — | benign |
| rs147403420 | 17:31,416,002 | G/A | — | uncertain significance |
| rs371777452 | 17:31,438,937 | G/C | — | uncertain significance |
| rs776377083 | 17:31,439,001 | C/T | — | uncertain significance |
| rs7211567 | 17:31,460,899 | C/G | — | — |
| rs73982435 | 17:31,473,455 | C/A | — | — |
| rs3930349 | 17:31,475,545 | C/G | — | — |
| rs59237168 | 17:31,479,035 | T/C | intron variant | — |
| rs11080208 | 17:31,550,443 | T/A | — | — |
| rs80343429 | 17:31,556,681 | G/C | — | — |
| rs870589 | 17:31,614,454 | T/A | intron variant | — |
| rs769532040 | 17:31,618,443 | G/A | — | uncertain significance |
| rs2508584648 | 17:31,618,481 | A/G | — | uncertain significance |
| rs769134070 | 17:31,618,595 | G/A | — | uncertain significance |
| rs773615120 | 17:31,618,615 | C/G | — | uncertain significance |
| rs763844311 | 17:31,618,631 | C/T | — | uncertain significance |
| rs2508359911 | 17:31,618,668 | G/A | — | uncertain significance |
| rs765959705 | 17:31,618,758 | G/T | — | uncertain significance |
| rs2508360997 | 17:31,618,863 | G/T | — | uncertain significance |
| rs555231528 | 17:31,618,874 | G/A | — | uncertain significance |
| rs768813059 | 17:31,618,947 | G/A | — | uncertain significance |
| rs1253695117 | 17:31,618,955 | G/A | — | uncertain significance |
| rs2508362360 | 17:31,619,013 | C/A | — | uncertain significance |
| rs1431914105 | 17:31,619,064 | G/C | — | uncertain significance |
| rs1245206703 | 17:31,619,069 | A/C | — | uncertain significance |
| rs1034870505 | 17:31,619,108 | A/C | — | uncertain significance |
| rs4365329 | 17:31,625,887 | A/C | — | — |
| rs320637 | 17:31,665,328 | C/A | — | — |
| rs1354492 | 17:31,737,421 | T/C | intron variant | — |
| rs1123025 | 17:31,775,823 | C/G | — | — |
| rs9905752 | 17:31,847,626 | G/C | regulatory region variant | — |
| rs11652874 | 17:31,970,483 | C/G | intron variant | — |
| rs565099877 | 17:32,023,804 | C/T | — | — |
| rs78720716 | 17:32,073,612 | C/T | — | — |
| rs181054738 | 17:32,112,664 | T/C | intron variant | — |
| rs967293 | 17:32,158,916 | G/T | — | — |
| rs75983146 | 17:32,229,217 | G/T | intron variant | — |
| rs915479 | 17:32,266,023 | C/T | upstream gene variant | — |
| rs11650066 | 17:32,287,449 | G/A | intron variant | — |
| rs117364231 | 17:32,306,423 | C/T | intron variant | — |
| rs572171526 | 17:32,385,222 | T/C | — | — |
| rs191435629 | 17:32,397,891 | G/A | intron variant | — |
| rs144858377 | 17:32,417,006 | C/G | intron variant | — |
| rs116908816 | 17:32,422,699 | G/C | — | — |
| rs9901756 | 17:32,464,154 | A/C | intron variant | — |
| rs766759249 | 17:32,483,115 | T/C | — | uncertain significance |
| rs565904010 | 17:32,483,140 | G/A | — | uncertain significance |
| rs1208204660 | 17:32,483,167 | C/T | — | uncertain significance |
| rs199748301 | 17:32,483,307 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.