CSF2 Gene

CSF2 is the acronym for "Colony Stimulating Factor 2". CDF2 is a protein-coding gene that is also located on chromosome 5q31.1. The protein encoded by this gene is a cytokine that regulates the production, differentiation and function of granulocytes and macrophages.

The CSF2 gene is located in a cluster of related genes in chromosomal region 5q31 known to be associated with interstitial deletions in 5q syndrome and acute myeloid leukemia.

Other genes in this cluster include those encoding interleukins 4, 5, and 13 .

The CSF2 gene plays a role in promoting inflammatory responses in tissues. SARS-CoV-2 infected patients who develop acute respiratory distress syndrome have been found to have elevated levels of cytokines, including the one produced by this gene.

Diseases associated with mutations of the CSF2 gene include pulmonary alveolar proteinosis and mucositis.

1. Huebner K et al (1985) The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly. Science 230: 1282-1285
2. Le Beau M M et al (1993) Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. Proc Nat Acad Sci 90: 5484-5488
3. Le Beau M M et al (1986) Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders. Science 231: 984-987