CSF2 (Colony Stimulating Factor 2)
Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF) Gene
Gene Information Card
| Symbol | CSF2 |
|---|---|
| Full Name | Colony Stimulating Factor 2 (Granulocyte-Macrophage) |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 1437 ncbi.nlm.nih.gov/gene/1437 |
| Ensembl ID | ENSG00000164400 |
| UniProt ID | P04141 |
| OMIM ID | 138960 |
| HGNC ID | 2434 |
| Aliases | GM-CSF, GMCSF, MGC131935, MGC138897 |
Description
The CSF2 gene encodes granulocyte-macrophage colony-stimulating factor (GM-CSF), a cytokine that stimulates the production, differentiation, and function of granulocytes and macrophages. It plays a critical role in immune responses, hematopoiesis, and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Alveolar Proteinosis (PAP) | Autoantibodies against GM-CSF impair alveolar macrophage function, leading to surfactant accumulation. | ClinVar, OMIM |
| Myeloid Leukemia | CSF2 overexpression or receptor mutations can drive abnormal myeloid proliferation. | COSMIC, NCBI Gene |
| Rheumatoid Arthritis | Elevated GM-CSF levels promote inflammatory macrophage activation and joint destruction. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.4 | Low |
| Spleen | 0.2 | Low |
| Bone Marrow | 0.1 | Low |
| Whole Blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 0.0 | Not expressed; induced upon activation |
| K-562 (leukemia) | 0.0 | Not expressed |
| A549 (lung carcinoma) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; start codon loss |
| c.304C>T (p.Arg102Cys) | missense | <0.01% | Unknown; rare variant |
| c.367G>A (p.Gly123Ser) | missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Met1?) predicted to disrupt protein synthesis or function.
Gain of Function (GOF)
Not reported in CSF2; gain-of-function is more commonly associated with CSF2 receptor mutations.
Dominant Negative (DN)
Not documented for CSF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic cell lineage (KEGG: hsa04640)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
Protein Summary
GM-CSF is a 144-amino-acid secreted glycoprotein that binds to a heterodimeric receptor (CSF2RA/CSF2RB) to activate JAK2/STAT5, PI3K/AKT, and MAPK pathways. It promotes survival, proliferation, and differentiation of myeloid progenitors and enhances effector functions of mature granulocytes and macrophages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSF2 Knockout HEK293 Cell Line | EDJ-KQ455 | Human | 1437 | Details Get a Quote |
| CSF2RB Knockout HEK293 Cell Line | EDJ-KQ456 | Human | 1439 | Details Get a Quote |
| ACSF2 Knockout HEK293 Cell Line | EDJ-KQ9504 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout A-549 Cell Line | EDJ-KQ36251 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout HCT 116 Cell Line | EDJ-KQ36252 | Human | 80221 | Details Get a Quote |
| ACSF2 Knockout HeLa Cell Line | EDJ-KQ36253 | Human | 80221 | Details Get a Quote |
| CSF2RA Knockout HEK293 Cell Line | EDJ-KQ50211 | Human | 1438 | Details Get a Quote |
| CSF2 Knockout HeLa Cell Line | EDJ-KQ53000 | Human | 1437 | Details Get a Quote |
| CSF2RA Knockout HeLa Cell Line | EDJ-KQ53001 | Human | 1438 | Details Get a Quote |
| CSF2RB Knockout HeLa Cell Line | EDJ-KQ53002 | Human | 1439 | Details Get a Quote |
| CSF2 Knockout A-549 Cell Line | EDJ-KQ61466 | Human | 1437 | Details Get a Quote |
| CSF2RA Knockout A-549 Cell Line | EDJ-KQ61467 | Human | 1438 | Details Get a Quote |
| CSF2RB Knockout A-549 Cell Line | EDJ-KQ61468 | Human | 1439 | Details Get a Quote |
| CSF2 Knockout HCT 116 Cell Line | EDJ-KQ69963 | Human | 1437 | Details Get a Quote |
| CSF2RA Knockout HCT 116 Cell Line | EDJ-KQ69964 | Human | 1438 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
