CSF2
colony stimulating factor 2
Summary
The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200208265 | 5:131,409,574 | G/A | — | likely benign |
| rs201688947 | 5:131,409,577 | C/T | — | uncertain significance |
| rs777654384 | 5:131,409,581 | C/T | — | likely benign |
| rs2069621 | 5:131,409,582 | G/A | — | benign |
| rs2069622 | 5:131,409,597 | G/A | — | benign |
| rs143375057 | 5:131,409,672 | G/C | — | uncertain significance |
| rs150936557 | 5:131,410,552 | G/C | — | uncertain significance |
| rs141989882 | 5:131,410,577 | C/T | — | benign |
| rs766328271 | 5:131,410,617 | C/A | — | uncertain significance |
| rs145753257 | 5:131,410,628 | G/A | — | likely benign |
| rs2069640 | 5:131,411,454 | C/T | — | likely benign |
| rs25882 | 5:131,411,460 | T/C | missense variant | — |
| rs25884 | 5:131,412,238 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.