IL5 Gene (Interleukin-5): Function, Disease Associations, and Expression
A comprehensive overview of the IL5 gene, its protein product, genomic context, expression patterns, and clinical significance.
Gene Information Card
| Symbol | IL5 |
|---|---|
| Full Name | Interleukin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 3567 ncbi.nlm.nih.gov/gene/3567 |
| Ensembl ID | ENSG00000113525 |
| UniProt ID | P05113 |
| OMIM ID | 147850 |
| HGNC ID | 6016 |
| Aliases | IL-5; EDF; TRF; BCDF; EOSDF |
Description
The IL5 gene encodes interleukin-5, a cytokine that plays a critical role in the differentiation, activation, and survival of eosinophils. It is primarily produced by T-helper 2 (Th2) cells, mast cells, and eosinophils themselves. IL5 signals through the IL-5 receptor (IL5RA/CD125) and is a key mediator in allergic inflammation and eosinophilic disorders. The gene is located in a cytokine cluster on chromosome 5q31, which includes other interleukins (IL3, IL4, IL13).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | IL5 promotes eosinophilic inflammation in airways; elevated IL5 levels correlate with disease severity. Anti-IL5 therapies (e.g., mepolizumab) are used to reduce exacerbations. | ClinVar, OMIM, multiple clinical studies |
| Eosinophilic esophagitis (EoE) | IL5 is overexpressed in esophageal tissue, driving eosinophil accumulation and tissue damage. Anti-IL5 treatment has shown efficacy in reducing eosinophil counts. | ClinVar, OMIM, clinical trials |
| Hypereosinophilic syndrome (HES) | Overproduction of IL5 leads to persistent eosinophilia and organ damage. IL5 levels are elevated in some HES patients, and anti-IL5 therapy is used. | ClinVar, OMIM, case reports |
| Eosinophilic granulomatosis with polyangiitis (EGPA) | IL5 contributes to eosinophilic inflammation in EGPA; anti-IL5 therapy (mepolizumab) is approved for treatment. | ClinVar, OMIM, clinical guidelines |
| Allergic rhinitis | IL5 is involved in eosinophilic infiltration of nasal mucosa; levels correlate with symptom severity. | ClinVar, OMIM, research studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Bone Marrow | 0.0 | Not detected |
| Thymus | 0.0 | Not detected |
| Lymph Node | 0.0 | Not detected |
| Blood | 0.0 | Not detected |
| Small Intestine | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 0.0 | Not expressed |
| K-562 (leukemia) | 0.0 | Not expressed |
| MCF7 (breast cancer) | 0.0 | Not expressed |
| HeLa (cervical cancer) | 0.0 | Not expressed |
| A549 (lung cancer) | 0.0 | Not expressed |
| HUVEC (endothelial) | 0.0 | Not expressed |
| Jurkat (T cell) | 0.0 | Not expressed |
| Raji (B cell) | 0.0 | Not expressed |
| U87 (glioblastoma) | 0.0 | Not expressed |
| HepG2 (liver cancer) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2069812 | SNV (intronic) | Allele frequency: G=0.45 (1000 Genomes) | Associated with altered IL5 expression in asthma; may affect eosinophil counts. |
| rs4143832 | SNV (5' near gene) | Allele frequency: C=0.30 (1000 Genomes) | Potential regulatory variant; linked to IL5 levels in allergic disease. |
| rs17690122 | SNV (intronic) | Allele frequency: T=0.10 (1000 Genomes) | Reported in some asthma cohorts; functional impact unclear. |
| rs117026726 | SNV (intronic) | Allele frequency: A=0.02 (1000 Genomes) | Rare variant; no known clinical significance. |
Mutation functional classification
Loss of Function (LOF)
No common loss-of-function mutations have been reported in IL5. Knockout studies in mice show impaired eosinophil development, but human null variants are extremely rare and not well characterized.
Gain of Function (GOF)
Gain-of-function mutations in IL5 are not documented. Overexpression of IL5 is typically due to regulatory or epigenetic changes rather than coding mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for IL5.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-5 receptor binding |
| • growth factor activity | • extracellular space |
| • regulation of immune response | • eosinophil differentiation |
| • positive regulation of cell proliferation | • inflammatory response |
Pathways
• Cytokine-cytokine receptor interaction
• IL-5 signaling pathway
• Th2 cell differentiation
• Asthma pathway
• Eosinophil degranulation
Protein Summary
Interleukin-5 (IL-5) is a 134-amino acid protein (mature form) with a molecular weight of ~15 kDa. It forms a homodimer and binds to the IL-5 receptor alpha chain (IL5RA) and common beta chain (CSF2RB). IL-5 is a key regulator of eosinophilopoiesis, promoting the proliferation, differentiation, and activation of eosinophils. It also enhances the release of eosinophil-derived mediators and prolongs eosinophil survival. IL-5 is produced by Th2 cells, mast cells, and eosinophils, and its expression is tightly regulated at the transcriptional level. The protein structure includes a four-helix bundle typical of cytokines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL5RA Knockout HEK293 Cell Line | EDJ-KQ497 | Human | 3568 | Details Get a Quote |
| IL5 Knockout HEK293 Cell Line | EDJ-KQ4989 | Human | 3567 | Details Get a Quote |
| IL5 Knockout A-549 Cell Line | EDJ-KQ27880 | Human | 3567 | Details Get a Quote |
| IL5 Knockout HeLa Cell Line | EDJ-KQ53637 | Human | 3567 | Details Get a Quote |
| IL5RA Knockout HeLa Cell Line | EDJ-KQ53638 | Human | 3568 | Details Get a Quote |
| IL5RA Knockout A-549 Cell Line | EDJ-KQ62112 | Human | 3568 | Details Get a Quote |
| IL5 Knockout HCT 116 Cell Line | EDJ-KQ70599 | Human | 3567 | Details Get a Quote |
| IL5RA Knockout HCT 116 Cell Line | EDJ-KQ70600 | Human | 3568 | Details Get a Quote |
