CCR2
Chr 3ARC-C motif chemokine receptor 2
Also known as: CC-CKR-2, CCR-2, CCR2A, CCR2B, CD192, CKR2, CKR2A, CKR2B
CCR2 encodes a G-protein coupled receptor that binds chemokines including CCL2 to mediate monocyte and macrophage chemotaxis and migration, playing key roles in immune cell recruitment and inflammatory responses. Autosomal recessive mutations cause polycystic lung disease and affect susceptibility to HIV infection. The gene shows low constraint to loss-of-function variants (pLI 0.02, LOEUF 0.976), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
68 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 4 | 7 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 38 | 1 | 0 | 39 |
Likely Benign | 0 | 2 | 0 | 4 | 6 |
Benign | 0 | 1 | 0 | 3 | 4 |
| Total | 1 | 45 | 9 | 7 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis
NOT YET RECRUITINGGenetic Polymorphism Associated With Coronary Heart Disease Susceptibility and Variability of Clopidogrel Response
ACTIVE NOT RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGGermline Alterations of Tumor Susceptibility Genes in New York Cancer Patients
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools