CD226
CD226 molecule
Summary
This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34875178 | 18:67,522,821 | C/T | intron variant | — |
| rs7239671 | 18:67,523,260 | A/G | intron variant | — |
| rs1610554 | 18:67,524,356 | G/C | — | — |
| rs4891780 | 18:67,524,383 | C/T | intron variant | — |
| rs12606845 | 18:67,525,227 | G/T | downstream gene variant | — |
| rs1790961 | 18:67,525,286 | T/G | downstream gene variant | — |
| rs1808094 | 18:67,526,026 | T/A | — | — |
| rs1615504 | 18:67,526,644 | T/C | downstream gene variant | — |
| rs7244202 | 18:67,527,701 | T/C | downstream gene variant | — |
| rs1790946 | 18:67,528,430 | C/T | downstream gene variant | — |
| rs118083622 | 18:67,528,953 | T/A | downstream gene variant | — |
| rs727088 | 18:67,530,439 | G/C | — | — |
| rs34794968 | 18:67,531,026 | C/A | 3 prime UTR variant | — |
| rs141282007 | 18:67,531,573 | G/A | missense variant | — |
| rs763361 | 18:67,531,642 | T/G | missense variant | — |
| rs1983008984 | 18:67,531,651 | T/C | — | uncertain significance |
| rs758955798 | 18:67,531,668 | T/C | — | uncertain significance |
| rs1788105 | 18:67,532,292 | A/T | — | — |
| rs1788229 | 18:67,533,961 | T/A | — | — |
| rs533971919 | 18:67,534,630 | C/T | — | likely benign |
| rs12969657 | 18:67,536,496 | C/T | intron variant | — |
| rs8099412 | 18:67,536,617 | T/C | intron variant | — |
| rs12956324 | 18:67,537,270 | C/T | — | — |
| rs17207042 | 18:67,537,351 | T/C | intron variant | — |
| rs1865761 | 18:67,539,392 | T/C | intron variant | — |
| rs202015188 | 18:67,540,462 | T/A | — | uncertain significance |
| rs1788098 | 18:67,542,798 | C/T | intron variant | — |
| rs1788097 | 18:67,543,688 | C/T | intron variant | — |
| rs2469434 | 18:67,544,046 | T/C | intron variant | — |
| rs201586042 | 18:67,562,988 | C/T | — | uncertain significance |
| rs144496656 | 18:67,563,026 | G/C | — | uncertain significance |
| rs748967734 | 18:67,563,033 | C/T | — | likely benign |
| rs148019790 | 18:67,563,048 | C/T | — | uncertain significance |
| rs371645451 | 18:67,563,155 | G/A | — | uncertain significance |
| rs753412573 | 18:67,563,227 | T/C | — | uncertain significance |
| rs75828748 | 18:67,569,564 | T/C | intron variant | — |
| rs73464743 | 18:67,573,655 | A/C | intron variant | — |
| rs28418405 | 18:67,597,086 | C/A | intron variant | — |
| rs1823778 | 18:67,601,636 | G/C | intron variant | — |
| rs12970649 | 18:67,605,807 | C/G | — | — |
| rs2511741465 | 18:67,614,002 | G/A | — | uncertain significance |
| rs763900514 | 18:67,614,009 | G/T | — | uncertain significance |
| rs748881338 | 18:67,614,095 | A/G | — | uncertain significance |
| rs1320655737 | 18:67,614,204 | A/T | — | uncertain significance |
| rs193218979 | 18:67,614,261 | C/T | — | likely benign |
| rs200385598 | 18:67,614,618 | C/G | — | uncertain significance |
| rs56796157 | 18:67,627,511 | T/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.