IL4 Gene (Interleukin 4): Function, Pathways, and Clinical Significance
A comprehensive overview of the IL4 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | IL4 |
|---|---|
| Full Name | Interleukin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 3565 ncbi.nlm.nih.gov/gene/3565 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | P05112 |
| OMIM ID | 147780 |
| HGNC ID | 6014 |
| Aliases | BCGF-1; BSF1; IL-4; MGC79402 |
Description
The IL4 gene encodes interleukin-4, a pleiotropic cytokine produced by activated T cells, mast cells, and basophils. It plays a critical role in the regulation of immune responses, particularly in promoting Th2 differentiation, IgE class switching, and allergic inflammation. IL4 exerts its effects through the IL-4 receptor (IL4R) and activates JAK-STAT signaling, primarily STAT6. It is involved in various diseases, including asthma, allergies, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | IL4 promotes Th2 cell differentiation and IgE production, contributing to airway inflammation and hyperresponsiveness. | ClinVar, OMIM |
| Allergic rhinitis | IL4 drives IgE-mediated sensitization to allergens, leading to nasal mucosal inflammation. | ClinVar, OMIM |
| Atopic dermatitis | IL4 overexpression in skin lesions promotes Th2 inflammation and disrupts skin barrier function. | ClinVar, OMIM |
| Rheumatoid arthritis | IL4 may have both pro- and anti-inflammatory roles; it can modulate synovial inflammation and joint damage. | PubMed, OMIM |
| Cancer (various) | IL4 can promote tumor immune evasion by polarizing macrophages to M2 phenotype and inhibiting anti-tumor immunity. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 0.2 | Low |
| Spleen | 0.1 | Low |
| Bone marrow | 0.1 | Low |
| Thymus | 0.1 | Low |
| Lung | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Th2 cells (activated) | High | Primary source of IL4 |
| Mast cells | Moderate | Release IL4 upon activation |
| Basophils | Moderate | Produce IL4 in allergic responses |
| Eosinophils | Low | Minor source |
| NK T cells | Low | Produce IL4 upon stimulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2243250 (C-589T) | SNP | 5-10% (allele frequency varies) | Associated with altered IL4 expression and asthma susceptibility |
| rs2070874 (C-33T) | SNP | 10-20% | May affect IL4 transcription and IgE levels |
| rs2227284 (G-1098T) | SNP | 5-15% | Linked to atopy and allergic diseases |
| rs2243267 (C-34T) | SNP | 5-10% | Potential impact on IL4 promoter activity |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function mutations in IL4 are not well documented; complete deficiency is likely lethal due to immune dysfunction.
Gain of Function (GOF)
Gain-of-function mutations are rare; some SNPs may increase IL4 expression, leading to enhanced Th2 responses and allergic phenotypes.
Dominant Negative (DN)
No dominant-negative mutations have been reported for IL4.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-4 receptor binding |
| • growth factor activity | • immune response |
| • positive regulation of B cell proliferation | • positive regulation of IgE production |
| • Th2 cell differentiation | • JAK-STAT signaling pathway |
Pathways
• IL-4 signaling pathway
• Th1/Th2 differentiation
• JAK-STAT signaling pathway
• Allograft rejection signaling
• Role of cytokines in immune response
Protein Summary
Interleukin-4 (IL-4) is a 15 kDa cytokine that folds into a four-helix bundle. It binds to the IL-4 receptor (IL4R) complex, which includes IL4Rα and the common gamma chain (γc). This binding activates JAK1 and JAK3, leading to phosphorylation of STAT6, which dimerizes and translocates to the nucleus to regulate gene expression. IL-4 is crucial for Th2 cell polarization, IgE class switching in B cells, and upregulation of MHC class II expression. It also promotes alternative activation of macrophages (M2) and inhibits Th1 responses. IL-4 is involved in allergic inflammation, asthma, and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL4R Knockout HEK293 Cell Line | EDJ-KQ496 | Human | 3566 | Details Get a Quote |
| IL4 Knockout HEK293 Cell Line | EDJ-KQ2714 | Human | 3565 | Details Get a Quote |
| IL4I1 Knockout HEK293 Cell Line | EDJ-KQ3808 | Human | 259307 | Details Get a Quote |
| PIWIL4 Knockout HEK293 Cell Line | EDJ-KQ10392 | Human | 143689 | Details Get a Quote |
| IL4R Knockout HeLa Cell Line | EDJ-KQ17947 | Human | 3566 | Details Get a Quote |
| IL4R Knockout HCT 116 Cell Line | EDJ-KQ18009 | Human | 3566 | Details Get a Quote |
| IL4R Knockout A-549 Cell Line | EDJ-KQ18808 | Human | 3566 | Details Get a Quote |
| IL4I1 Knockout MDA-MB-231 Cell Line | EDJ-KZ299 | Human | 259307 | Details Get a Quote |
| IL4 Knockout HeLa Cell Line | EDJ-KQ53636 | Human | 3565 | Details Get a Quote |
| PIWIL4 Knockout HeLa Cell Line | EDJ-KQ58494 | Human | 143689 | Details Get a Quote |
| IL4I1 Knockout HeLa Cell Line | EDJ-KQ59345 | Human | 259307 | Details Get a Quote |
| IL4 Knockout A-549 Cell Line | EDJ-KQ62111 | Human | 3565 | Details Get a Quote |
| PIWIL4 Knockout A-549 Cell Line | EDJ-KQ66983 | Human | 143689 | Details Get a Quote |
| IL4I1 Knockout A-549 Cell Line | EDJ-KQ67808 | Human | 259307 | Details Get a Quote |
| IL4 Knockout HCT 116 Cell Line | EDJ-KQ70598 | Human | 3565 | Details Get a Quote |
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