CCR5 Chromosome 3
C-C motif chemokine receptor 5
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What This Gene Does
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"CD molecules|C-C motif chemokine receptors"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000160791
Associated Conditions (5)
Acquired immunodeficiency syndrome
delayed progression to
Susceptibility to HIV infection
CCR5 PROMOTER POLYMORPHISM
CCR5-related disorder
Key Variants
RS1799987
Conflicting classifications of pathogenicity; protective
Acquired immunodeficiency syndrome, delayed progression to, Susceptibility to HIV infection
Protective
RS1800560
protective
Susceptibility to HIV infection, Susceptibility to HIV infection
Protective
RS1800940
protective
Susceptibility to HIV infection, Susceptibility to HIV infection
Protective
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1799987 | Protective | Conflicting classifications of pathogenicity; protective | Acquired immunodeficiency syndrome, delayed progression to, Susceptibility to HIV infection |
| RS1800560 | Protective | protective | Susceptibility to HIV infection, Susceptibility to HIV infection |
| RS1800940 | Protective | protective | Susceptibility to HIV infection, Susceptibility to HIV infection |