| Colony Stimulating Factor 2 | |
|---|---|
| Gene Symbol | CSF2 |
| Full Name | Colony stimulating factor 2 (GM-CSF) |
| Chromosome | 5q31.1 |
| NCBI Gene ID | 1437 |
| OMIM | 138960 |
| Ensembl ID | ENSG00000164400 |
| UniProt ID | P04141 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, ALS, Multiple Sclerosis |
CSF2 (Colony Stimulating Factor 2), also known as Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF), is a cytokine-encoding gene located on chromosome 5q31.1. This gene encodes a hematopoietic growth factor that stimulates the production and differentiation of granulocytes and macrophages from bone marrow progenitor cells. In the central nervous system, CSF2 plays complex roles in both immune function and neuronal survival. The gene is expressed in various brain cell types including neurons, astrocytes, microglia, and endothelial cells, where it can promote neuroinflammation through microglial activation while also exhibiting neurotrophic properties. CSF2 has been investigated for potential therapeutic benefits in neurodegenerative diseases, with clinical trials exploring its effects on cognitive function in Alzheimer's disease. However, the dual nature of CSF2/GM-CSF action—promoting both beneficial neurotrophic effects and potentially harmful neuroinflammation—makes its therapeutic modulation complex.
CSF2 encodes Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF), a cytokine that stimulates the production and differentiation of granulocytes and macrophages. In the brain, GM-CSF acts on microglia and promotes neuroinflammation. It also has neurotrophic effects and has been investigated for potential therapeutic benefits in neurodegenerative diseases.
Expressed in various tissues, including brain. Produced by neurons, astrocytes, microglia, and endothelial cells. Upregulated during inflammation.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Various | Risk factor | Microglial activation, neuroinflammation |
| Parkinson's Disease | Various | Risk factor | Neuroinflammation, dopaminergic neuron survival |
| ALS | Various | Risk factor | Microglial activation, motor neuron inflammation |
| Multiple Sclerosis | Various | Risk factor | Autoimmune demyelination |