ACKR2
atypical chemokine receptor 2
Summary
This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4683336 | 3:42,859,953 | C/A | — | — |
| rs1582882 | 3:42,874,934 | T/A | — | — |
| rs4683339 | 3:42,876,741 | C/T | intron variant | — |
| rs139285797 | 3:42,876,903 | C/T | intron variant | — |
| rs1007638 | 3:42,881,065 | G/A | regulatory region variant | — |
| rs11919717 | 3:42,883,002 | C/A | intron variant | — |
| rs4683345 | 3:42,886,642 | G/A | intron variant | — |
| rs143705145 | 3:42,887,149 | C/A | intron variant | — |
| rs761203874 | 3:42,890,359 | T/G | — | — |
| rs4683346 | 3:42,892,961 | T/C | regulatory region variant | — |
| rs150113830 | 3:42,893,342 | C/T | downstream gene variant | — |
| rs9872570 | 3:42,896,515 | T/A | downstream gene variant | — |
| rs2195224 | 3:42,901,000 | G/A | intron variant | — |
| rs4682867 | 3:42,905,465 | C/T | intron variant | — |
| rs4682868 | 3:42,905,515 | A/T | intron variant | — |
| rs2228467 | 3:42,906,116 | T/C | missense variant | — |
| rs2528587639 | 3:42,906,160 | A/G | — | uncertain significance |
| rs2528587665 | 3:42,906,170 | T/G | — | uncertain significance |
| rs2528588326 | 3:42,906,500 | G/C | — | uncertain significance |
| rs150050911 | 3:42,906,509 | C/G | — | uncertain significance |
| rs960929452 | 3:42,906,568 | G/A | — | uncertain significance |
| rs754502272 | 3:42,906,736 | G/A | — | uncertain significance |
| rs184802180 | 3:42,906,941 | G/T | — | uncertain significance |
| rs189203964 | 3:42,906,943 | C/T | — | uncertain significance |
| rs2228468 | 3:42,907,112 | A/T | missense variant | — |
| rs1366045 | 3:42,909,050 | T/C | downstream gene variant | — |
| rs3919627 | 3:42,909,160 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.