ADGRE3
adhesion G protein-coupled receptor E3
Summary
This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7254215 | 19:14,713,493 | G/A | intron variant | — |
| rs751299196 | 19:14,736,388 | C/A | — | uncertain significance |
| rs374894225 | 19:14,736,393 | T/C | — | uncertain significance |
| rs747383330 | 19:14,740,854 | C/A | — | uncertain significance |
| rs779680624 | 19:14,740,891 | C/G | — | uncertain significance |
| rs568667077 | 19:14,740,899 | G/T | — | uncertain significance |
| rs140590698 | 19:14,740,960 | C/T | — | uncertain significance |
| rs1439620698 | 19:14,743,758 | C/T | — | uncertain significance |
| rs376096757 | 19:14,744,055 | A/G | — | uncertain significance |
| rs371645604 | 19:14,748,937 | G/C | — | uncertain significance |
| rs1303815438 | 19:14,748,943 | C/G | — | uncertain significance |
| rs764409272 | 19:14,749,097 | G/C | — | uncertain significance |
| rs769730847 | 19:14,752,235 | G/T | — | uncertain significance |
| rs1437064843 | 19:14,752,238 | T/C | — | uncertain significance |
| rs757917921 | 19:14,752,287 | A/G | — | uncertain significance |
| rs200188037 | 19:14,752,292 | G/A | — | uncertain significance |
| rs768705620 | 19:14,752,340 | A/G | — | uncertain significance |
| rs562575959 | 19:14,752,383 | C/T | — | uncertain significance |
| rs1278973185 | 19:14,752,422 | C/A | — | uncertain significance |
| rs777989326 | 19:14,752,423 | C/G | — | uncertain significance |
| rs1159572018 | 19:14,754,937 | T/A | — | uncertain significance |
| rs2512684588 | 19:14,755,053 | T/G | — | uncertain significance |
| rs375117467 | 19:14,757,998 | C/T | — | uncertain significance |
| rs774415927 | 19:14,758,033 | G/C | — | uncertain significance |
| rs760970194 | 19:14,758,051 | C/G | — | uncertain significance |
| rs150299594 | 19:14,758,088 | C/T | — | uncertain significance |
| rs1971439138 | 19:14,758,165 | A/G | — | uncertain significance |
| rs1406520472 | 19:14,761,909 | C/T | — | uncertain significance |
| rs113225443 | 19:14,761,923 | C/T | — | likely benign |
| rs763354843 | 19:14,761,962 | T/C | — | likely benign |
| rs1372935210 | 19:14,761,987 | A/G | — | uncertain significance |
| rs753290906 | 19:14,762,001 | G/A | — | likely benign |
| rs183697632 | 19:14,765,958 | T/C | — | uncertain significance |
| rs138910897 | 19:14,765,969 | C/A | — | uncertain significance |
| rs1224120025 | 19:14,772,869 | A/T | — | uncertain significance |
| rs1319243148 | 19:14,772,923 | A/C | — | uncertain significance |
| rs2512722140 | 19:14,774,251 | A/G | — | uncertain significance |
| rs754794750 | 19:14,774,263 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.