CXCL1
C-X-C motif chemokine ligand 1
Summary
This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3117603 | 4:74,733,558 | A/T | regulatory region variant | — |
| rs28729473 | 4:74,733,611 | C/G | — | — |
| rs1731885404 | 4:74,735,215 | C/T | — | uncertain significance |
| rs758743363 | 4:74,735,415 | C/G | — | uncertain significance |
| rs200234866 | 4:74,735,433 | C/A | — | uncertain significance |
| rs201545979 | 4:74,735,455 | T/C | — | uncertain significance |
| rs201293315 | 4:74,735,468 | C/G | — | likely benign |
| rs186092967 | 4:74,735,469 | G/A | — | uncertain significance |
| rs145342393 | 4:74,735,494 | C/T | — | benign |
| rs4074 | 4:74,736,144 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.