RIMS2
regulating synaptic membrane exocytosis 2
Summary
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
Known Variants115 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs78505067 | 8:104,513,156 | C/A | — | benign |
| rs374524431 | 8:104,513,191 | T/C | — | uncertain significance |
| rs757566917 | 8:104,513,209 | T/C | — | uncertain significance |
| rs2549365523 | 8:104,513,258 | G/T | — | uncertain significance |
| rs75686122 | 8:104,573,789 | C/T | — | — |
| rs10093101 | 8:104,587,913 | C/T | — | — |
| rs769908030 | 8:104,709,427 | A/T | — | uncertain significance |
| rs756415450 | 8:104,778,475 | G/T | — | uncertain significance |
| rs1427670847 | 8:104,778,522 | A/G | — | uncertain significance |
| rs776169751 | 8:104,778,539 | A/G | — | uncertain significance |
| rs1223959483 | 8:104,778,561 | A/T | — | uncertain significance |
| rs371067340 | 8:104,778,602 | A/C | — | uncertain significance |
| rs745949957 | 8:104,778,605 | A/C | — | uncertain significance |
| rs61729653 | 8:104,778,627 | C/T | — | benign |
| rs370162871 | 8:104,778,656 | T/C | — | uncertain significance |
| rs754227465 | 8:104,778,682 | A/G | — | likely benign |
| rs751676338 | 8:104,778,720 | G/T | — | uncertain significance |
| rs188770151 | 8:104,778,752 | A/G | — | likely benign |
| rs746511179 | 8:104,897,521 | C/T | — | likely benign |
| rs201322998 | 8:104,897,539 | T/C | — | uncertain significance |
| rs190433281 | 8:104,897,542 | G/T | — | likely benign |
| rs764120867 | 8:104,897,569 | G/A | — | uncertain significance |
| rs34681663 | 8:104,897,619 | C/T | — | benign |
| rs559067260 | 8:104,897,635 | C/T | — | uncertain significance |
| rs35925435 | 8:104,897,687 | A/T | — | conflicting classifications of pathogenicity |
| rs200264682 | 8:104,897,806 | G/A | — | uncertain significance |
| rs202004651 | 8:104,897,928 | G/A | — | likely benign |
| rs1399560927 | 8:104,897,969 | C/A | — | uncertain significance |
| rs377106907 | 8:104,898,008 | A/C | — | uncertain significance |
| rs745754491 | 8:104,898,031 | G/C | — | uncertain significance |
| rs199608093 | 8:104,898,074 | G/A | — | uncertain significance |
| rs776368899 | 8:104,898,131 | C/T | — | uncertain significance |
| rs750540599 | 8:104,898,176 | G/T | — | uncertain significance |
| rs2099199060 | 8:104,898,290 | C/G | — | pathogenic |
| rs2099199231 | 8:104,898,338 | G/C | — | uncertain significance |
| rs866392810 | 8:104,898,388 | T/C | — | uncertain significance |
| rs546030108 | 8:104,920,042 | C/T | — | — |
| rs771568571 | 8:104,922,353 | C/T | — | likely benign |
| rs752684485 | 8:104,922,419 | C/A | — | uncertain significance |
| rs369153281 | 8:104,922,439 | G/A | — | likely benign |
| rs141316868 | 8:104,924,317 | C/T | — | benign |
| rs201351103 | 8:104,924,318 | G/A | — | uncertain significance |
| rs752898404 | 8:104,924,330 | G/T | — | uncertain significance |
| rs375138135 | 8:104,924,348 | G/A | — | uncertain significance |
| rs200160054 | 8:104,924,365 | G/C | — | uncertain significance |
| rs200587950 | 8:104,924,386 | A/G | — | uncertain significance |
| rs200151905 | 8:104,924,389 | C/T | — | uncertain significance |
| rs201686148 | 8:104,927,747 | T/A | — | uncertain significance |
| rs758249996 | 8:104,927,796 | C/T | — | uncertain significance |
| rs117733379 | 8:104,928,774 | G/T | — | likely benign |
| rs73699005 | 8:104,930,663 | T/C | — | likely benign |
| rs762208463 | 8:104,930,686 | C/T | — | uncertain significance |
| rs767359476 | 8:104,930,703 | C/A | — | uncertain significance |
| rs138369781 | 8:104,933,910 | C/T | — | likely benign |
| rs530250614 | 8:104,933,932 | C/T | — | uncertain significance |
| rs1373870807 | 8:104,933,939 | C/T | — | uncertain significance |
| rs529276399 | 8:104,933,959 | A/G | — | uncertain significance |
| rs202126935 | 8:104,933,960 | T/C | — | uncertain significance |
| rs2548360431 | 8:104,933,963 | G/T | — | uncertain significance |
| rs1595189710 | 8:104,933,982 | T/C | — | likely benign |
| rs201336825 | 8:104,943,491 | A/G | — | uncertain significance |
| rs61753731 | 8:104,943,552 | A/C | — | likely benign |
| rs183274467 | 8:104,943,577 | G/T | — | uncertain significance |
| rs776940427 | 8:104,948,805 | C/T | — | uncertain significance |
| rs542037196 | 8:104,948,819 | T/C | — | likely benign |
| rs754719790 | 8:104,948,840 | A/G | — | uncertain significance |
| rs2548632626 | 8:104,948,886 | T/C | — | uncertain significance |
| rs1438474179 | 8:104,948,887 | G/A | — | uncertain significance |
| rs766328696 | 8:104,948,916 | G/A | — | uncertain significance |
| rs752348409 | 8:104,948,930 | G/A | — | uncertain significance |
| rs56146220 | 8:104,951,238 | G/A | intron variant | — |
| rs2548777243 | 8:104,955,014 | T/C | — | uncertain significance |
| rs202000083 | 8:104,955,109 | C/G | — | uncertain significance |
| rs1449861708 | 8:104,955,112 | C/T | — | pathogenic |
| rs746895436 | 8:104,955,142 | C/G | — | uncertain significance |
| rs2548783184 | 8:104,955,150 | G/T | — | uncertain significance |
| rs201192656 | 8:104,973,363 | T/C | — | likely pathogenic |
| rs777168435 | 8:104,987,587 | A/G | — | uncertain significance |
| rs766544538 | 8:104,987,601 | C/A | — | uncertain significance |
| rs199696831 | 8:104,987,618 | A/T | — | uncertain significance |
| rs2093332969 | 8:104,987,708 | G/A | — | pathogenic |
| rs34236346 | 8:104,987,711 | A/T | — | benign |
| rs12114906 | 8:104,988,784 | T/C | intron variant | — |
| rs187532798 | 8:105,001,543 | G/A | — | uncertain significance |
| rs201715496 | 8:105,001,597 | C/G | — | uncertain significance |
| rs199654709 | 8:105,001,620 | G/A | — | uncertain significance |
| rs182266368 | 8:105,010,471 | G/A | — | benign |
| rs542594833 | 8:105,025,792 | G/C | — | uncertain significance |
| rs547578476 | 8:105,025,824 | G/T | — | uncertain significance |
| rs770450570 | 8:105,026,738 | C/T | — | uncertain significance |
| rs2095850257 | 8:105,026,763 | C/G | — | uncertain significance |
| rs751622966 | 8:105,026,786 | G/A | — | uncertain significance |
| rs2095850849 | 8:105,026,792 | C/T | — | pathogenic |
| rs752574736 | 8:105,026,793 | G/C | — | uncertain significance |
| rs1057518581 | 8:105,026,802 | G/T | — | uncertain significance |
| rs1383969517 | 8:105,026,838 | A/C | — | uncertain significance |
| rs13259172 | 8:105,075,524 | T/G | intron variant | — |
| rs2551081839 | 8:105,105,773 | T/C | — | uncertain significance |
| rs181398801 | 8:105,150,253 | A/G | intron variant | — |
| rs182987047 | 8:105,249,272 | A/T | intron variant | — |
Showing 100 of 115 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.