CCR2
C-C motif chemokine receptor 2
Summary
The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs746791976 | 3:46,399,090 | T/A | — | uncertain significance |
| rs369390916 | 3:46,399,093 | T/A | — | uncertain significance |
| rs749834579 | 3:46,399,160 | C/T | — | uncertain significance |
| rs3918367 | 3:46,399,174 | G/T | — | benign |
| rs752561542 | 3:46,399,200 | T/G | — | pathogenic |
| rs113016448 | 3:46,399,207 | C/T | — | likely benign |
| rs1799864 | 3:46,399,208 | G/A | missense variant | benign |
| rs113340633 | 3:46,399,374 | T/G | — | pathogenic |
| rs759124459 | 3:46,399,396 | C/T | — | likely benign |
| rs1190295120 | 3:46,399,415 | C/T | — | uncertain significance |
| rs1212756427 | 3:46,399,488 | G/A | — | uncertain significance |
| rs372424162 | 3:46,399,605 | G/A | — | uncertain significance |
| rs201670838 | 3:46,399,633 | G/A | — | uncertain significance |
| rs776605382 | 3:46,399,646 | G/A | — | uncertain significance |
| rs760736040 | 3:46,399,666 | C/T | — | likely benign |
| rs921975876 | 3:46,399,673 | G/A | — | likely benign |
| rs758002439 | 3:46,399,706 | C/T | — | uncertain significance |
| rs200491743 | 3:46,399,764 | T/C | missense variant | — |
| rs1799865 | 3:46,399,798 | T/C | — | benign |
| rs2529521310 | 3:46,399,799 | A/G | — | uncertain significance |
| rs373111136 | 3:46,399,867 | G/T | — | likely benign |
| rs2529521725 | 3:46,399,905 | C/A | — | pathogenic |
| rs779248623 | 3:46,400,061 | C/T | — | uncertain significance |
| rs3092960 | 3:46,400,062 | G/A | — | benign |
| rs368150580 | 3:46,401,280 | G/A | — | uncertain significance |
| rs3918387 | 3:46,401,290 | G/A | — | benign |
| rs766409398 | 3:46,401,299 | A/G | — | uncertain significance |
| rs2529526783 | 3:46,401,319 | G/A | — | uncertain significance |
| rs1361190411 | 3:46,401,344 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.