CXCR2 Chromosome 2
C-X-C motif chemokine receptor 2
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What This Gene Does
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"CD molecules|Interleukin receptors|C-X-C motif chemokine receptors"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000180871
Associated Conditions (2)
CXCR2-related disorder
WHIM syndrome 2
Key Variants
RS55799208
Conflicting classifications of pathogenicity
CXCR2-related disorder, CXCR2-related disorder
Health Risk
RS1273183086
Likely pathogenic
WHIM syndrome 2, WHIM syndrome 2
Health Risk
RS1574542732
Likely pathogenic
Health Risk
RS200409575
Pathogenic
Health Risk
RS2106109435
Pathogenic
WHIM syndrome 2, WHIM syndrome 2
Health Risk
RS2469114085
Pathogenic
Health Risk
RS776719750
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS55799208 | Health Risk | Conflicting classifications of pathogenicity | CXCR2-related disorder, CXCR2-related disorder |
| RS1273183086 | Health Risk | Likely pathogenic | WHIM syndrome 2, WHIM syndrome 2 |
| RS1574542732 | Health Risk | Likely pathogenic | — |
| RS200409575 | Health Risk | Pathogenic | — |
| RS2106109435 | Health Risk | Pathogenic | WHIM syndrome 2, WHIM syndrome 2 |
| RS2469114085 | Health Risk | Pathogenic | — |
| RS776719750 | Health Risk | Pathogenic | — |