ELMO1
engulfment and cell motility 1
Summary
This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765898655 | 7:36,895,224 | T/C | — | uncertain significance |
| rs201616410 | 7:36,895,292 | C/T | — | uncertain significance |
| rs767784847 | 7:36,895,343 | G/A | — | uncertain significance |
| rs141508815 | 7:36,901,274 | T/C | — | uncertain significance |
| rs761554084 | 7:36,910,078 | G/A | — | uncertain significance |
| rs741301 | 7:36,917,995 | C/T | intron variant | — |
| rs750912430 | 7:36,934,463 | T/C | — | uncertain significance |
| rs1258087833 | 7:36,934,481 | C/T | — | uncertain significance |
| rs765537908 | 7:36,934,618 | A/G | — | uncertain significance |
| rs11769038 | 7:36,943,314 | G/T | intron variant | — |
| rs10488023 | 7:36,952,021 | A/G | intron variant | — |
| rs1882080 | 7:36,955,841 | G/C | — | — |
| rs13230047 | 7:36,961,320 | C/T | upstream gene variant | — |
| rs10488029 | 7:37,067,395 | A/G | regulatory region variant | — |
| rs10488031 | 7:37,076,854 | G/A | intron variant | — |
| rs137862825 | 7:37,136,280 | C/T | — | uncertain significance |
| rs1392445899 | 7:37,172,821 | T/C | — | uncertain significance |
| rs1345365 | 7:37,200,613 | G/A | regulatory region variant | — |
| rs10951509 | 7:37,213,483 | G/A | upstream gene variant | — |
| rs10224438 | 7:37,236,581 | A/G | intron variant | — |
| rs144700377 | 7:37,251,034 | C/T | — | uncertain significance |
| rs1174488092 | 7:37,251,094 | C/A | — | uncertain significance |
| rs746393646 | 7:37,252,968 | A/G | — | uncertain significance |
| rs1448608892 | 7:37,256,266 | C/A | — | uncertain significance |
| rs142606801 | 7:37,262,212 | C/G | — | benign |
| rs1793662129 | 7:37,262,288 | C/T | — | uncertain significance |
| rs200982685 | 7:37,264,598 | G/A | — | uncertain significance |
| rs4723619 | 7:37,266,352 | T/C | intron variant | — |
| rs780651615 | 7:37,272,713 | G/A | — | uncertain significance |
| rs201643830 | 7:37,272,717 | C/T | — | uncertain significance |
| rs2546820591 | 7:37,272,746 | T/C | — | uncertain significance |
| rs762877369 | 7:37,272,770 | G/A | — | uncertain significance |
| rs1043529201 | 7:37,298,793 | C/T | — | uncertain significance |
| rs2546880562 | 7:37,298,823 | T/C | — | uncertain significance |
| rs971451065 | 7:37,298,924 | A/G | — | uncertain significance |
| rs537305606 | 7:37,365,132 | G/A | — | — |
| rs2392492 | 7:37,365,196 | G/A | intron variant | — |
| rs6974491 | 7:37,374,510 | G/A | intron variant | — |
| rs1962401 | 7:37,377,172 | G/C | intron variant | — |
| rs73112675 | 7:37,379,030 | A/G | intron variant | — |
| rs1391209484 | 7:37,382,230 | A/G | — | uncertain significance |
| rs17259544 | 7:37,388,813 | G/A | upstream gene variant | — |
| rs2700984 | 7:37,391,820 | C/T | downstream gene variant | — |
| rs2700982 | 7:37,394,820 | C/G | downstream gene variant | — |
| rs60343814 | 7:37,395,851 | G/A | intron variant | — |
| rs111796602 | 7:37,402,490 | T/C | intron variant | — |
| rs77972791 | 7:37,403,647 | A/G | intron variant | — |
| rs77778931 | 7:37,404,978 | C/T | — | — |
| rs6965930 | 7:37,405,874 | T/C | intron variant | — |
| rs74830391 | 7:37,427,289 | C/T | intron variant | — |
| rs75351767 | 7:37,427,351 | T/C | intron variant | — |
| rs10230459 | 7:37,431,559 | C/A | — | — |
| rs11984075 | 7:37,436,854 | A/G | intron variant | — |
| rs13241143 | 7:37,440,628 | A/C | intron variant | — |
| rs13236163 | 7:37,442,613 | T/A | — | — |
| rs36028514 | 7:37,450,162 | C/T | intron variant | — |
| rs11771053 | 7:37,452,113 | G/A | — | — |
| rs78225312 | 7:37,463,652 | T/C | downstream gene variant | — |
| rs28628397 | 7:37,468,889 | C/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.