CCR5
C-C motif chemokine receptor 5
Summary
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]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs333 | 3:46,373,453 | I/D | frameshift variant | — |
| rs2856758 | 3:46,411,661 | A/G | regulatory region variant | — |
| rs1799987 | 3:46,411,935 | A/G | intron variant | pathogenic |
| rs1799988 | 3:46,412,259 | C/T | 5 prime UTR variant | — |
| rs41469351 | 3:46,412,262 | C/T | 5 prime UTR variant | pathogenic |
| rs763103073 | 3:46,414,462 | C/A | — | likely benign |
| rs751650495 | 3:46,414,467 | T/A | — | uncertain significance |
| rs56340326 | 3:46,414,485 | G/A | — | uncertain significance |
| rs779570167 | 3:46,414,509 | T/G | — | uncertain significance |
| rs1800940 | 3:46,414,573 | G/T | missense variant | protective |
| rs142829420 | 3:46,414,580 | A/T | — | uncertain significance |
| rs901409670 | 3:46,414,665 | C/T | — | uncertain significance |
| rs766082963 | 3:46,414,667 | G/A | — | uncertain significance |
| rs1701690973 | 3:46,414,688 | A/T | — | uncertain significance |
| rs1800560 | 3:46,414,696 | T/A | stop gained | protective |
| rs183662584 | 3:46,414,709 | G/A | — | likely benign |
| rs762167048 | 3:46,414,715 | T/C | — | uncertain significance |
| rs754799423 | 3:46,414,816 | G/A | — | likely benign |
| rs1800942 | 3:46,414,885 | C/G | — | uncertain significance |
| rs1259961094 | 3:46,414,895 | A/G | — | uncertain significance |
| rs1448047850 | 3:46,414,910 | G/T | — | uncertain significance |
| rs1701701934 | 3:46,415,034 | A/G | — | uncertain significance |
| rs1800452 | 3:46,415,061 | G/A | missense variant | benign |
| rs1575279854 | 3:46,415,108 | A/G | — | uncertain significance |
| rs141139165 | 3:46,415,134 | C/T | — | likely benign |
| rs761483454 | 3:46,415,207 | T/C | — | uncertain significance |
| rs559194526 | 3:46,415,286 | C/A | — | uncertain significance |
| rs968948935 | 3:46,415,373 | T/C | — | uncertain significance |
| rs1800944 | 3:46,415,397 | C/T | missense variant | benign |
| rs2529553044 | 3:46,415,403 | C/T | — | uncertain significance |
| rs375916464 | 3:46,415,424 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.