ITPR2
inositol 1,4,5-trisphosphate receptor type 2
Summary
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
Known Variants167 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1049380 | 12:26,489,544 | G/T | downstream gene variant | — |
| rs1049376 | 12:26,491,475 | T/A | — | — |
| rs370471674 | 12:26,492,349 | T/A | — | uncertain significance |
| rs779028166 | 12:26,493,132 | G/C | — | uncertain significance |
| rs200691111 | 12:26,493,155 | G/A | — | uncertain significance |
| rs540971850 | 12:26,493,201 | C/T | — | uncertain significance |
| rs117588584 | 12:26,510,514 | C/T | intron variant | — |
| rs117398064 | 12:26,523,628 | G/C | downstream gene variant | — |
| rs10771279 | 12:26,530,543 | T/A | — | — |
| rs779230220 | 12:26,540,461 | T/C | — | uncertain significance |
| rs1455973795 | 12:26,540,500 | T/C | — | uncertain significance |
| rs2540192735 | 12:26,551,860 | T/C | — | uncertain significance |
| rs2540192778 | 12:26,551,916 | A/T | — | uncertain significance |
| rs786204832 | 12:26,553,099 | C/T | missense variant | pathogenic |
| rs1940129738 | 12:26,553,159 | T/A | — | uncertain significance |
| rs2540211071 | 12:26,564,277 | G/C | — | uncertain significance |
| rs369918783 | 12:26,564,324 | A/C | — | uncertain significance |
| rs971365539 | 12:26,572,088 | C/T | — | uncertain significance |
| rs369243791 | 12:26,572,126 | A/G | — | likely benign |
| rs181133917 | 12:26,580,958 | A/G | — | uncertain significance |
| rs141830513 | 12:26,581,013 | A/G | — | uncertain significance |
| rs7955200 | 12:26,585,829 | C/T | intron variant | — |
| rs16930692 | 12:26,586,006 | A/C | intron variant | — |
| rs61914392 | 12:26,586,829 | A/G | intron variant | — |
| rs10771283 | 12:26,587,578 | G/A | regulatory region variant | — |
| rs191665433 | 12:26,589,231 | C/T | — | uncertain significance |
| rs2540251339 | 12:26,589,271 | C/T | — | uncertain significance |
| rs762358283 | 12:26,592,090 | T/C | — | uncertain significance |
| rs184496919 | 12:26,592,152 | G/C | — | likely benign |
| rs369435750 | 12:26,592,182 | C/T | — | uncertain significance |
| rs188149148 | 12:26,592,235 | C/T | — | likely benign |
| rs11048525 | 12:26,598,990 | A/C | intron variant | — |
| rs11048526 | 12:26,602,264 | G/A | intron variant | — |
| rs200479256 | 12:26,628,235 | G/C | — | likely benign |
| rs2540340070 | 12:26,628,251 | T/A | — | uncertain significance |
| rs376442300 | 12:26,628,262 | A/G | — | likely benign |
| rs746267205 | 12:26,628,299 | T/A | — | uncertain significance |
| rs189362129 | 12:26,634,060 | C/T | — | benign |
| rs2540351726 | 12:26,634,084 | C/T | — | uncertain significance |
| rs180906254 | 12:26,634,091 | G/A | — | likely benign |
| rs2306677 | 12:26,636,386 | A/C | — | — |
| rs1271921653 | 12:26,636,695 | G/A | — | likely benign |
| rs139925842 | 12:26,636,769 | A/G | — | likely benign |
| rs1329200405 | 12:26,639,115 | C/T | — | uncertain significance |
| rs750385034 | 12:26,639,132 | C/T | — | uncertain significance |
| rs201087470 | 12:26,639,140 | T/G | — | uncertain significance |
| rs2230382 | 12:26,639,155 | G/A | — | benign |
| rs771493134 | 12:26,639,183 | T/C | — | uncertain significance |
| rs61751235 | 12:26,639,265 | C/G | — | uncertain significance |
| rs759445821 | 12:26,640,005 | C/T | — | uncertain significance |
| rs771479483 | 12:26,640,009 | C/G | — | uncertain significance |
| rs2540363794 | 12:26,640,014 | A/T | — | likely benign |
| rs1436901924 | 12:26,640,042 | T/C | — | uncertain significance |
| rs777183769 | 12:26,647,135 | C/G | — | uncertain significance |
| rs2540378492 | 12:26,647,241 | C/T | — | uncertain significance |
| rs2540380563 | 12:26,648,132 | A/T | — | uncertain significance |
| rs11048556 | 12:26,668,668 | G/T | — | — |
| rs73087256 | 12:26,703,170 | A/T | — | benign |
| rs2540481876 | 12:26,703,260 | C/T | — | uncertain significance |
| rs191789657 | 12:26,709,168 | C/T | — | benign |
| rs905300445 | 12:26,709,172 | A/G | — | uncertain significance |
| rs375381119 | 12:26,709,173 | T/C | — | uncertain significance |
| rs770173131 | 12:26,709,201 | G/T | — | uncertain significance |
| rs774885630 | 12:26,714,756 | C/T | — | uncertain significance |
| rs762628150 | 12:26,714,757 | G/A | — | uncertain significance |
| rs374338330 | 12:26,714,819 | C/T | — | uncertain significance |
| rs200153745 | 12:26,714,876 | C/T | — | uncertain significance |
| rs753895236 | 12:26,714,885 | G/A | — | uncertain significance |
| rs11048585 | 12:26,721,182 | C/T | intron variant | — |
| rs16931011 | 12:26,728,515 | A/G | intron variant | — |
| rs760128808 | 12:26,731,686 | T/G | — | uncertain significance |
| rs755854075 | 12:26,731,710 | G/A | — | likely benign |
| rs1429437455 | 12:26,732,976 | T/C | — | uncertain significance |
| rs200346963 | 12:26,733,016 | T/A | — | conflicting classifications of pathogenicity |
| rs202218048 | 12:26,733,017 | C/A | — | conflicting classifications of pathogenicity |
| rs2230375 | 12:26,733,062 | T/C | — | benign |
| rs756802555 | 12:26,733,096 | G/A | — | likely benign |
| rs2230377 | 12:26,749,831 | G/A | — | benign |
| rs2540592845 | 12:26,749,851 | C/G | — | uncertain significance |
| rs781558920 | 12:26,749,865 | G/A | — | uncertain significance |
| rs2540593167 | 12:26,749,908 | C/A | — | uncertain significance |
| rs759162814 | 12:26,749,936 | C/G | — | likely benign |
| rs756318998 | 12:26,750,026 | A/C | — | uncertain significance |
| rs781094405 | 12:26,752,167 | G/A | — | uncertain significance |
| rs201711868 | 12:26,752,213 | G/A | — | benign |
| rs2540599408 | 12:26,752,246 | G/C | — | uncertain significance |
| rs191673689 | 12:26,752,256 | C/T | — | likely benign |
| rs12832680 | 12:26,752,897 | T/C | — | benign |
| rs2540601287 | 12:26,752,984 | C/G | — | uncertain significance |
| rs1033634268 | 12:26,753,015 | T/G | — | uncertain significance |
| rs539657227 | 12:26,753,018 | T/C | — | uncertain significance |
| rs1442513421 | 12:26,753,031 | C/A | — | uncertain significance |
| rs1367268265 | 12:26,753,035 | T/G | — | uncertain significance |
| rs2540606465 | 12:26,755,326 | G/T | — | uncertain significance |
| rs754335213 | 12:26,755,334 | A/G | — | uncertain significance |
| rs2540606865 | 12:26,755,377 | G/C | — | uncertain significance |
| rs766776857 | 12:26,755,386 | A/C | — | uncertain significance |
| rs79829928 | 12:26,755,391 | T/C | — | uncertain significance |
| rs755472790 | 12:26,755,393 | A/G | — | likely benign |
| rs370950302 | 12:26,755,547 | G/A | — | likely benign |
Showing 100 of 167 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.