CCR2 Chromosome 3
C-C motif chemokine receptor 2
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|C-C motif chemokine receptors"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000121807
Associated Conditions (3)
Cystic disease of lung
Susceptibility to HIV infection
CCR2-related disorder
Key Variants
RS113340633
Pathogenic
Cystic disease of lung, Cystic disease of lung
Health Risk
RS1268159081
Pathogenic
Cystic disease of lung, Cystic disease of lung
Health Risk
RS2529520604
Pathogenic
Cystic disease of lung, Cystic disease of lung
Health Risk
RS2529521725
Pathogenic
Cystic disease of lung, Cystic disease of lung
Health Risk
RS752561542
Pathogenic
Cystic disease of lung, Cystic disease of lung
Health Risk
RS1799864
Benign; protective
Susceptibility to HIV infection, CCR2-related disorder, Susceptibility to HIV infection
Protective
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113340633 | Health Risk | Pathogenic | Cystic disease of lung, Cystic disease of lung |
| RS1268159081 | Health Risk | Pathogenic | Cystic disease of lung, Cystic disease of lung |
| RS2529520604 | Health Risk | Pathogenic | Cystic disease of lung, Cystic disease of lung |
| RS2529521725 | Health Risk | Pathogenic | Cystic disease of lung, Cystic disease of lung |
| RS752561542 | Health Risk | Pathogenic | Cystic disease of lung, Cystic disease of lung |
| RS1799864 | Protective | Benign; protective | Susceptibility to HIV infection, CCR2-related disorder, Susceptibility to HIV infection |