CSF3 Gene - Colony Stimulating Factor 3
Granulocyte Colony-Stimulating Factor (G-CSF) - Key Regulator of Neutrophil Production
Gene Information Card
| Symbol | CSF3 |
|---|---|
| Full Name | Colony Stimulating Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.1 |
| NCBI Gene ID | 1440 ncbi.nlm.nih.gov/gene/1440 |
| Ensembl ID | ENSG00000108342 |
| UniProt ID | P09919 |
| OMIM ID | 138970 |
| HGNC ID | 2439 |
| Aliases | G-CSF, MGC45931, CSF3OS, C17orf33 |
Description
The CSF3 gene encodes granulocyte colony-stimulating factor (G-CSF), a cytokine that stimulates the production, differentiation, and function of neutrophils. It is essential for granulopoiesis and is used therapeutically to treat neutropenia. Mutations in CSF3 are associated with severe congenital neutropenia and acute myeloid leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe congenital neutropenia 1 (SCN1) | Loss-of-function mutations in CSF3 impair G-CSF signaling, leading to arrested neutrophil maturation. | OMIM #202700 |
| Acute myeloid leukemia (AML) | Somatic mutations (e.g., splice site, nonsense) in CSF3 are found in AML patients, often associated with prior G-CSF therapy. | COSMIC; ClinVar |
| Cyclic neutropenia | Heterozygous mutations in the 5' untranslated region or coding region of CSF3 disrupt normal regulation of neutrophil production. | OMIM #162800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.3 | Low |
| Spleen | 0.1 | Low |
| Lung | 0.0 | Not detected |
| Whole blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 | 0.0 | Not expressed |
| K-562 | 0.0 | Not expressed |
| THP-1 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.597+1G>A | Splice site | <1% | Loss of function; associated with severe congenital neutropenia |
| c.595C>T (p.Gln199*) | Nonsense | <1% | Premature stop; loss of function; associated with AML |
| c.1A>G (p.Met1?) | Missense | <1% | Start codon loss; loss of function; associated with cyclic neutropenia |
Mutation functional classification
Loss of Function (LOF)
Most CSF3 mutations are loss-of-function, leading to reduced G-CSF activity and neutropenia.
Gain of Function (GOF)
No gain-of-function mutations are reported in CSF3.
Dominant Negative (DN)
Some heterozygous mutations may exert a dominant-negative effect, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • granulocyte colony-stimulating factor activity | • cytokine activity |
| • growth factor activity | • extracellular space |
| • positive regulation of cell population proliferation | • positive regulation of neutrophil differentiation |
Pathways
• JAK-STAT signaling pathway
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• G-CSF signaling pathway
Protein Summary
Granulocyte colony-stimulating factor (G-CSF) is a 204-amino acid glycoprotein that binds to the G-CSF receptor (CSF3R) to promote neutrophil proliferation, differentiation, and survival. It is produced by monocytes, fibroblasts, and endothelial cells. Recombinant G-CSF (filgrastim) is used clinically to treat chemotherapy-induced neutropenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSF3 Knockout HEK293 Cell Line | EDJ-KQ457 | Human | 1440 | Details Get a Quote |
| ACSF3 Knockout HEK293 Cell Line | EDJ-KQ12263 | Human | 197322 | Details Get a Quote |
| CSF3R Knockout HEK293 Cell Line | EDJ-KQ17809 | Human | 1441 | Details Get a Quote |
| ACSF3 Knockout A-549 Cell Line | EDJ-KQ41060 | Human | 197322 | Details Get a Quote |
| ACSF3 Knockout HCT 116 Cell Line | EDJ-KQ41061 | Human | 197322 | Details Get a Quote |
| ACSF3 Knockout HeLa Cell Line | EDJ-KQ39821 | Human | 197322 | Details Get a Quote |
| Csf3 Knockout RAW 264.7 Cell Line | EDJ-KZ17 | Mouse | 12985 | Details Get a Quote |
| ACSF3 Knockout AGS Cell Line | EDJ-KZ524 | Human | 197322 | Details Get a Quote |
| CSF3 Knockout HeLa Cell Line | EDJ-KQ53003 | Human | 1440 | Details Get a Quote |
| CSF3R Knockout HeLa Cell Line | EDJ-KQ53004 | Human | 1441 | Details Get a Quote |
| CSF3 Knockout A-549 Cell Line | EDJ-KQ61469 | Human | 1440 | Details Get a Quote |
| CSF3R Knockout A-549 Cell Line | EDJ-KQ61470 | Human | 1441 | Details Get a Quote |
| CSF3 Knockout HCT 116 Cell Line | EDJ-KQ69966 | Human | 1440 | Details Get a Quote |
| CSF3R Knockout HCT 116 Cell Line | EDJ-KQ69967 | Human | 1441 | Details Get a Quote |
Displaying Records 1 To 14 Of 14 Records
