CCR3
Chr 3C-C motif chemokine receptor 3
Also known as: C C CKR3, CC-CKR-3, CD193, CKR 3, CKR3, CMKBR3
The CCR3 protein is a G protein-coupled receptor that regulates migration and activation of eosinophils and other immune cells in response to chemokines including eotaxin. Mutations cause autosomal recessive severe congenital neutropenia with eosinophilia. This gene is highly tolerant to loss-of-function mutations in the general population, suggesting the pathogenic variants may have specific effects on protein function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
72 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 | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 53 | 1 | 0 | 54 |
Likely Benign | 0 | 4 | 2 | 2 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 57 | 11 | 2 | 70 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCR3 · 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
Germline Alterations of Tumor Susceptibility Genes in New York Cancer Patients
ACTIVE NOT RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGImpact of Diet and Lifestyle Modification on the Intestinal Barrier Integrity in Crohn's Disease
RECRUITINGThe CATALINA Study
RECRUITINGExternal Resources
Links to major genomics databases and tools