SELE
selectin E
Summary
The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2205850 | 1:169,691,439 | G/T | — | — |
| rs5359 | 1:169,692,522 | T/C | intron variant | — |
| rs3917434 | 1:169,694,695 | C/T | intron variant | — |
| rs201045157 | 1:169,694,935 | G/C | — | uncertain significance |
| rs773892709 | 1:169,695,858 | G/A | — | uncertain significance |
| rs5355 | 1:169,695,870 | G/A | missense variant | benign |
| rs1183533495 | 1:169,695,905 | G/C | — | uncertain significance |
| rs3917429 | 1:169,695,945 | G/A | — | uncertain significance |
| rs576054652 | 1:169,696,552 | C/T | — | uncertain significance |
| rs763174875 | 1:169,696,645 | G/A | — | uncertain significance |
| rs5368 | 1:169,696,946 | G/A | missense variant | uncertain significance |
| rs2526008356 | 1:169,696,958 | C/G | — | uncertain significance |
| rs183505221 | 1:169,696,969 | C/G | — | uncertain significance |
| rs2526008594 | 1:169,697,033 | C/T | — | uncertain significance |
| rs750123573 | 1:169,697,053 | G/C | — | uncertain significance |
| rs5366 | 1:169,697,217 | C/G | — | benign |
| rs5365 | 1:169,697,218 | G/A | — | benign |
| rs140351789 | 1:169,697,231 | C/G | — | uncertain significance |
| rs749807908 | 1:169,697,250 | G/A | — | uncertain significance |
| rs141518098 | 1:169,697,268 | A/G | — | benign |
| rs776079701 | 1:169,697,354 | C/T | — | uncertain significance |
| rs779702893 | 1:169,698,386 | G/T | — | uncertain significance |
| rs79478039 | 1:169,698,442 | G/T | — | uncertain significance |
| rs146377589 | 1:169,698,450 | C/T | — | uncertain significance |
| rs754605515 | 1:169,698,485 | T/C | — | uncertain significance |
| rs770740485 | 1:169,698,620 | C/A | — | uncertain significance |
| rs41272475 | 1:169,698,643 | T/G | — | likely benign |
| rs5364 | 1:169,698,647 | C/T | — | benign |
| rs3917455 | 1:169,698,657 | A/G | — | benign |
| rs1373695866 | 1:169,698,665 | A/G | — | uncertain significance |
| rs201112265 | 1:169,698,694 | A/G | — | uncertain significance |
| rs958543861 | 1:169,698,701 | C/T | — | uncertain significance |
| rs914057721 | 1:169,698,785 | C/A | — | uncertain significance |
| rs2076059 | 1:169,698,921 | C/T | intron variant | — |
| rs1558014895 | 1:169,699,620 | T/A | — | uncertain significance |
| rs748274881 | 1:169,699,632 | A/G | — | likely benign |
| rs1343364047 | 1:169,699,642 | G/T | — | uncertain significance |
| rs202228237 | 1:169,699,650 | C/T | — | uncertain significance |
| rs746383296 | 1:169,699,664 | G/A | — | likely benign |
| rs1172747844 | 1:169,699,692 | T/C | — | uncertain significance |
| rs750762267 | 1:169,701,011 | C/T | — | uncertain significance |
| rs547304288 | 1:169,701,032 | A/G | — | uncertain significance |
| rs5361 | 1:169,701,060 | T/A | missense variant | — |
| rs765715697 | 1:169,701,773 | A/G | — | uncertain significance |
| rs367882577 | 1:169,701,905 | G/C | — | uncertain significance |
| rs2526023163 | 1:169,701,950 | T/C | — | uncertain significance |
| rs1471659313 | 1:169,702,035 | C/T | — | uncertain significance |
| rs372754267 | 1:169,702,077 | C/G | — | uncertain significance |
| rs3917406 | 1:169,702,278 | A/G | intron variant | benign |
| rs1415766610 | 1:169,702,723 | T/C | — | uncertain significance |
| rs1805193 | 1:169,702,772 | C/A | intron variant | — |
| rs3917390 | 1:169,704,554 | G/A | — | — |
| rs764667895 | 1:169,705,043 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.