CSF2RB Gene - Colony Stimulating Factor 2 Receptor Subunit Beta
Common beta chain of cytokine receptors for IL-3, IL-5, and GM-CSF
Gene Information Card
| Symbol | CSF2RB |
|---|---|
| Full Name | Colony Stimulating Factor 2 Receptor Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 1439 ncbi.nlm.nih.gov/gene/1439 |
| Ensembl ID | ENSG00000100368 |
| UniProt ID | P32927 |
| OMIM ID | 138981 |
| HGNC ID | 2436 |
| Aliases | CD131, IL3RB, IL5RB, GM-CSF-RB, betaC |
Description
CSF2RB encodes the common beta chain (beta c) shared by the receptors for interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte-macrophage colony-stimulating factor (GM-CSF). This subunit is essential for high-affinity ligand binding and signal transduction via JAK/STAT pathways, regulating hematopoiesis, immune responses, and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Alveolar Proteinosis (PAP) | Loss-of-function mutations in CSF2RB impair GM-CSF signaling, leading to defective surfactant clearance by alveolar macrophages. | PMID: 9536096, OMIM #300770 |
| Myeloid Leukemia | Somatic mutations (e.g., V449E) in CSF2RB cause constitutive activation of the receptor, promoting uncontrolled myeloid proliferation. | PMID: 10545953, COSMIC |
| Severe Congenital Neutropenia | Rare CSF2RB variants disrupt GM-CSF/IL-3/IL-5 signaling, contributing to neutropenia and recurrent infections. | PMID: 24753542 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Blood | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic) | 15.2 | High expression |
| HL-60 (promyelocytic) | 11.8 | Medium expression |
| K-562 (erythroleukemic) | 4.3 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1348G>A (p.Val449Glu) | Missense | <0.1% in general population | Gain-of-function; constitutive activation of JAK/STAT signaling |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss-of-function; impaired receptor expression |
| c.820C>T (p.Arg274*) | Nonsense | Rare | Loss-of-function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations (e.g., p.Met1Val, p.Arg274*) that reduce receptor expression or ligand binding, leading to PAP or neutropenia.
Gain of Function (GOF)
Missense mutations (e.g., p.Val449Glu) that cause ligand-independent receptor dimerization and constitutive signaling, associated with myeloid leukemia.
Dominant Negative (DN)
Not well documented; some truncating mutations may exert dominant-negative effects by interfering with wild-type receptor assembly.
View complete mutation data：
Gene Ontology (GO)
| • cytokine receptor activity (GO:0004896) | • cytokine binding (GO:0019955) |
| • signal transduction (GO:0007165) | • JAK-STAT cascade (GO:0007259) |
| • plasma membrane (GO:0005886) |
Pathways
• GM-CSF signaling pathway (Reactome: R-HSA-913531)
• IL-3 signaling pathway (Reactome: R-HSA-512988)
• IL-5 signaling pathway (Reactome: R-HSA-449147)
• JAK-STAT signaling pathway (KEGG: hsa04630)
Protein Summary
CSF2RB (CD131) is a 120 kDa transmembrane glycoprotein that functions as the common beta chain for IL-3, IL-5, and GM-CSF receptors. It lacks intrinsic kinase activity but associates with JAK2 to mediate downstream signaling. The extracellular domain contains cytokine-binding modules, while the cytoplasmic domain has Box1/Box2 motifs essential for JAK2 recruitment. Mutations in CSF2RB are linked to pulmonary alveolar proteinosis and myeloid malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSF2RB Knockout HEK293 Cell Line | EDJ-KQ456 | Human | 1439 | Details Get a Quote |
| CSF2RB Knockout HeLa Cell Line | EDJ-KQ53002 | Human | 1439 | Details Get a Quote |
| CSF2RB Knockout A-549 Cell Line | EDJ-KQ61468 | Human | 1439 | Details Get a Quote |
| CSF2RB Knockout HCT 116 Cell Line | EDJ-KQ69965 | Human | 1439 | Details Get a Quote |
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