CSF2RA Gene - Colony Stimulating Factor 2 Receptor Subunit Alpha
Essential regulator of myeloid cell growth, differentiation, and pulmonary surfactant homeostasis
Gene Information Card
| Symbol | CSF2RA |
|---|---|
| Full Name | Colony Stimulating Factor 2 Receptor Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.32 and Yp11.3 (pseudoautosomal region 1) |
| NCBI Gene ID | 1438 ncbi.nlm.nih.gov/gene/1438 |
| Ensembl ID | ENSG00000198223 |
| UniProt ID | P15509 |
| OMIM ID | 306250 |
| HGNC ID | 2435 |
| Aliases | CD116, CSF2R, CSF2RX, CSF2RY, GM-CSF-R-alpha, GMR, SMDP4 |
Description
The CSF2RA gene encodes the alpha subunit of the heterodimeric receptor for granulocyte-macrophage colony-stimulating factor (GM-CSF). This receptor is critical for the proliferation, differentiation, and survival of myeloid lineage cells, including alveolar macrophages. CSF2RA is located in the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, enabling biallelic expression. Mutations in CSF2RA cause hereditary pulmonary alveolar proteinosis (PAP), a disorder characterized by surfactant accumulation due to impaired macrophage function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Alveolar Proteinosis, Hereditary (PAP) | Loss-of-function mutations in CSF2RA impair GM-CSF signaling, leading to defective alveolar macrophage clearance of surfactant | OMIM #300770; ClinVar; NCBI Gene |
| Myeloid Leukemia Susceptibility (reported) | Altered GM-CSF receptor signaling may contribute to aberrant myeloid proliferation | COSMIC; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Bone Marrow | 15.1 | High |
| Whole Blood | 6.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic) | 18.4 | High expression |
| HL-60 (promyelocytic) | 22.1 | High expression |
| A549 (lung epithelial) | 3.2 | Low expression |
| K-562 (erythroleukemic) | 1.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301C>T (p.Arg101*) | Nonsense | Rare (founder in European populations) | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.1327_1331del (p.Glu443Argfs*12) | Frameshift deletion | Rare | Loss of function; premature termination |
| Whole gene deletion | Copy number loss | Rare | Loss of function; complete absence of protein |
Mutation functional classification
Loss of Function (LOF)
Most CSF2RA mutations are loss-of-function, leading to hereditary pulmonary alveolar proteinosis due to impaired GM-CSF receptor signaling and alveolar macrophage dysfunction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CSF2RA.
Dominant Negative (DN)
Not described; recessive inheritance pattern observed.
View complete mutation data：
Gene Ontology (GO)
| • cytokine receptor activity (GO:0004896) | • cytokine binding (GO:0019955) |
| • signal transduction (GO:0007165) | • plasma membrane (GO:0005886) |
| • granulocyte-macrophage colony-stimulating factor receptor activity (GO:0038154) | • cellular developmental process (GO:0048869) |
Pathways
• GM-CSF Signaling Pathway (Reactome: R-HSA-913531)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Hematopoietic cell lineage (KEGG: hsa04640)
• JAK-STAT signaling pathway (KEGG: hsa04630)
Protein Summary
CSF2RA encodes the GM-CSF receptor alpha chain (CD116), a 400-amino-acid type I transmembrane protein. The extracellular domain contains a cytokine-binding region, while the cytoplasmic domain is short and lacks intrinsic kinase activity. Ligand binding induces heterodimerization with the common beta subunit (CSF2RB), activating JAK2/STAT5, PI3K/AKT, and MAPK pathways. The protein is essential for alveolar macrophage maturation and surfactant catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSF2RA Knockout HEK293 Cell Line | EDJ-KQ50211 | Human | 1438 | Details Get a Quote |
| CSF2RA Knockout HeLa Cell Line | EDJ-KQ53001 | Human | 1438 | Details Get a Quote |
| CSF2RA Knockout A-549 Cell Line | EDJ-KQ61467 | Human | 1438 | Details Get a Quote |
| CSF2RA Knockout HCT 116 Cell Line | EDJ-KQ69964 | Human | 1438 | Details Get a Quote |
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