CCR5
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | chemokine (C-C motif) receptor 5 |
| EntrezGene | 1234 |
| PheGenI | 1234 |
| VariationViewer | 1234 |
| ClinVar | CCR5 |
| GeneCards | CCR5 |
| dbSNP | 1234 |
| Diseases | CCR5 |
| SADR | 1234 |
| HugeNav | 1234 |
| wikipedia | CCR5 |
| CCR5 | |
| gopubmed | CCR5 |
| EVS | CCR5 |
| HEFalMp | CCR5 |
| MyGene2 | CCR5 |
| 23andMe | CCR5 |
| UniProt | P51681 |
| Ensembl | ENSG00000160791 |
| OMIM | 601373 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i3003626 | 46,414,947 | ||
| rs1799987 | 0 | 46,370,444 | |
| rs1799988 | 0 | 46,370,768 | |
| rs1800452 | 0 | 46,373,570 | |
| rs1800560 | 0 | 46,373,205 | |
| rs1800940 | 0 | 46,373,082 | |
| rs1800944 | 0 | 46,373,906 | |
| rs2856758 | 0 | 46,370,170 | |
| rs333 | 4 | 46,373,456 | HIV Resistance |
| rs41469351 | 0 | 46,370,771 |
The chemokine receptor protein encoded by the CCR5 gene is best known as the target for HIV infection and thus the potential of the development of AIDS. Variations in CCR5 can lead to differences in the rate of HIV infection, with the best known being the Delta 32 variant, rs333. [PMID 8751444, PMID 8756719]
The Delta 32 variant of rs333 is also associated with higher risk of abdominal aortic aneurysm (AAA). [PMID 15557916]
Other alleles reported to potentially have at least some (maybe minor) protective effect against AIDS include:
- rs1800560, CCR5 CYS101TER [PMID 9433423]
- rs1799987, CCR5 59029G, also known as -2459 [PMID 9742978, PMID 12815099]
- rs1800940, CCR5 ARG60SER [PMID 9399903]
At least one review of CCR5 risk haplotypes has been published. [PMID 17786209]
CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis [1]
