CCL2
C-C motif chemokine ligand 2
Summary
This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs969326231 | 17:32,578,058 | C/A | — | uncertain significance |
| rs1024610 | 17:32,580,231 | T/A | regulatory region variant | protective |
| rs3760396 | 17:32,581,441 | G/T | — | — |
| rs2857656 | 17:32,582,007 | G/C | regulatory region variant | — |
| rs28730833 | 17:32,582,494 | T/A | regulatory region variant | — |
| rs2857657 | 17:32,583,132 | G/C | upstream gene variant | protective |
| rs4586 | 17:32,583,269 | T/C | synonymous variant | benign |
| rs138768575 | 17:32,583,308 | C/T | — | likely benign |
| rs148937652 | 17:32,583,310 | C/T | — | uncertain significance |
| rs13900 | 17:32,583,911 | C/T | upstream gene variant | — |
| rs1024611 | 17:34,252,769 | A/G | upstream gene variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.