ADGRE5
adhesion G protein-coupled receptor E5
Summary
This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2302996 | 19:14,492,272 | T/G | — | — |
| rs1413265636 | 19:14,499,301 | A/G | — | uncertain significance |
| rs1328085839 | 19:14,499,531 | C/T | — | uncertain significance |
| rs144446999 | 19:14,499,544 | C/T | — | uncertain significance |
| rs150665764 | 19:14,499,614 | G/A | synonymous variant | — |
| rs139113505 | 19:14,499,616 | C/T | missense variant | — |
| rs141563774 | 19:14,501,757 | C/T | — | uncertain significance |
| rs372021393 | 19:14,501,813 | G/A | — | uncertain significance |
| rs757930051 | 19:14,507,162 | G/A | — | uncertain significance |
| rs377256419 | 19:14,507,198 | G/A | — | likely benign |
| rs746260211 | 19:14,507,913 | A/C | — | uncertain significance |
| rs563311457 | 19:14,507,919 | C/T | — | uncertain significance |
| rs202133027 | 19:14,507,951 | G/C | — | uncertain significance |
| rs568383810 | 19:14,507,979 | C/T | — | uncertain significance |
| rs369840270 | 19:14,508,026 | G/A | — | likely benign |
| rs2512755857 | 19:14,508,487 | T/A | — | uncertain significance |
| rs2146363247 | 19:14,508,511 | T/A | — | uncertain significance |
| rs753105785 | 19:14,508,550 | C/T | — | uncertain significance |
| rs548656990 | 19:14,508,557 | G/A | — | uncertain significance |
| rs752522386 | 19:14,508,726 | G/A | — | likely benign |
| rs2512756346 | 19:14,508,734 | G/C | — | uncertain significance |
| rs931941016 | 19:14,508,907 | C/G | — | uncertain significance |
| rs548522050 | 19:14,508,920 | C/A | — | uncertain significance |
| rs778057042 | 19:14,512,268 | G/A | — | uncertain significance |
| rs747173884 | 19:14,512,276 | A/T | — | uncertain significance |
| rs1043275920 | 19:14,512,322 | T/G | — | uncertain significance |
| rs376677729 | 19:14,512,343 | G/A | — | uncertain significance |
| rs759273933 | 19:14,512,346 | C/T | — | uncertain significance |
| rs61733711 | 19:14,512,502 | C/T | — | benign |
| rs1387005026 | 19:14,512,520 | C/G | — | uncertain significance |
| rs374807034 | 19:14,512,524 | G/A | — | uncertain significance |
| rs145167749 | 19:14,512,530 | A/G | — | uncertain significance |
| rs746549606 | 19:14,512,542 | T/C | — | uncertain significance |
| rs73924180 | 19:14,512,582 | G/A | — | benign |
| rs2512763042 | 19:14,513,505 | A/G | — | uncertain significance |
| rs759817850 | 19:14,513,528 | C/T | — | uncertain significance |
| rs371441293 | 19:14,513,529 | G/A | — | uncertain significance |
| rs763257495 | 19:14,513,544 | G/A | — | uncertain significance |
| rs754724948 | 19:14,513,558 | G/A | — | uncertain significance |
| rs778656409 | 19:14,513,562 | A/G | — | uncertain significance |
| rs150091194 | 19:14,513,586 | A/C | — | uncertain significance |
| rs932482748 | 19:14,513,604 | C/G | — | uncertain significance |
| rs745928566 | 19:14,513,616 | T/C | — | uncertain significance |
| rs373800132 | 19:14,513,642 | G/C | — | uncertain significance |
| rs199774805 | 19:14,513,644 | T/G | — | uncertain significance |
| rs142898808 | 19:14,515,213 | C/T | — | uncertain significance |
| rs753979664 | 19:14,515,252 | G/A | — | likely benign |
| rs138198401 | 19:14,515,328 | G/A | — | likely benign |
| rs2512766085 | 19:14,515,351 | C/G | — | uncertain significance |
| rs778091876 | 19:14,515,360 | C/T | — | uncertain significance |
| rs781476679 | 19:14,516,586 | G/C | — | uncertain significance |
| rs780564222 | 19:14,516,600 | T/A | — | uncertain significance |
| rs548189622 | 19:14,516,666 | G/A | — | uncertain significance |
| rs2512768719 | 19:14,516,673 | C/T | — | likely benign |
| rs757594719 | 19:14,516,676 | A/G | — | uncertain significance |
| rs769576560 | 19:14,516,731 | A/G | — | uncertain significance |
| rs768684495 | 19:14,516,735 | A/C | — | uncertain significance |
| rs1884605467 | 19:14,516,742 | A/C | — | uncertain significance |
| rs1250205096 | 19:14,517,201 | T/C | — | uncertain significance |
| rs112374262 | 19:14,517,226 | G/A | — | benign |
| rs776767113 | 19:14,517,229 | G/T | — | uncertain significance |
| rs146888178 | 19:14,517,319 | C/G | — | likely benign |
| rs1274107996 | 19:14,517,571 | T/A | — | uncertain significance |
| rs2512771991 | 19:14,517,922 | T/A | — | uncertain significance |
| rs763087049 | 19:14,517,942 | C/G | — | uncertain significance |
| rs756827351 | 19:14,517,971 | A/G | — | uncertain significance |
| rs1254721326 | 19:14,518,009 | C/T | — | uncertain significance |
| rs1294176973 | 19:14,518,027 | C/G | — | uncertain significance |
| rs755825807 | 19:14,518,720 | G/A | — | uncertain significance |
| rs369617596 | 19:14,518,723 | C/T | — | uncertain significance |
| rs772097638 | 19:14,518,730 | A/T | — | uncertain significance |
| rs763494177 | 19:14,518,759 | G/A | — | uncertain significance |
| rs377266346 | 19:14,518,760 | G/C | — | uncertain significance |
| rs766069037 | 19:14,518,768 | A/C | — | uncertain significance |
| rs770104603 | 19:14,518,811 | A/G | — | uncertain significance |
| rs201291607 | 19:14,518,820 | G/A | — | uncertain significance |
| rs143619017 | 19:14,518,925 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.