CXCR4 Chromosome 2
C-X-C motif chemokine receptor 4
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What This Gene Does
This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|C-X-C motif chemokine receptors"
Locus Type
gene with protein product
Location
2q22.1
Ensembl
ENSG00000121966
Associated Conditions (8)
Warts
hypogammaglobulinemia
infections
and myelokathexis
Inborn genetic diseases
WHIM syndrome 1
Neoplasm
Inherited Immunodeficiency Diseases
Key Variants
RS1053292586
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS145879963
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS147214773
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS148190725
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS368016542
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS377287446
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS56400844
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS755102336
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS769772228
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS773216142
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS909200339
Conflicting classifications of pathogenicity
Warts, hypogammaglobulinemia, infections
Health Risk
RS104893626
Likely pathogenic
Warts, hypogammaglobulinemia, infections
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1053292586 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS145879963 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS147214773 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS148190725 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS368016542 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS377287446 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS56400844 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS755102336 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS769772228 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS773216142 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS909200339 | Health Risk | Conflicting classifications of pathogenicity | Warts, hypogammaglobulinemia, infections |
| RS104893626 | Health Risk | Likely pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915503 | Health Risk | Likely pathogenic | — |
| RS2467263282 | Health Risk | Likely pathogenic | — |
| RS104893624 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS104893625 | Health Risk | Pathogenic | WHIM syndrome 1, WHIM syndrome 1 |
| RS1240625960 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS1684840786 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS1684841455 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS1684842255 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915487 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915518 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915543 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915548 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915575 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915614 | Health Risk | Pathogenic | — |
| RS2104915668 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS2104915680 | Health Risk | Pathogenic | Warts, hypogammaglobulinemia, infections |
| RS1573613529 | Health Risk | Pathogenic/Likely pathogenic | Inherited Immunodeficiency Diseases, WHIM syndrome 1, Inherited Immunodeficiency Diseases |
| RS730880320 | Health Risk | Pathogenic/Likely pathogenic | Warts, hypogammaglobulinemia, infections |