IL4
Chr 5interleukin 4
Also known as: BCGF-1, BCGF1, BSF-1, BSF1, IL-4
The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. In an allergic response, IL-4 has an essential role in the production of allergen-specific immunoglobin (Ig) E. This pro-inflammatory cytokine has been observed to be increased in COVID-19 (Coronavirus disease 2019) patients, but is not necessarily associated with severe COVID-19 pathology. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
35 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 13 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 17 | 2 | 0 | 19 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 17 | 17 | 1 | 35 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IL4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Towards a Functional Cure for HBV - The COMMIT Cohort Study
ACTIVE NOT RECRUITINGSafety and Efficacy Study of TX103 CAR-T Cell Therapy for Recurrent or Progressive Grade 4 Glioma.
RECRUITINGPrimary Hyperparathyroidism and Gut Microbiota
RECRUITINGMethotrexate in Erosive Inflammatory Hand Osteoarthritis
ACTIVE NOT RECRUITINGAdipose Tissue and Inflammation in Coronary Heart Disease
ACTIVE NOT RECRUITINGA Nutritional Intervention for Body, Brain, and Longevity Effects (NIBBLE)
NOT YET RECRUITINGMenopausal Symptoms Probiotic Study
RECRUITINGEffects of Yeast Beta-glucan on Cognitive Function in Patients With Mild Cognitive Impairment
ACTIVE NOT RECRUITINGImpact of Diet and Lifestyle Modification on the Intestinal Barrier Integrity in Crohn's Disease
RECRUITINGWild Blueberries in Colitis
RECRUITINGPhase I Trial of CEA Specific AAV-DC-CTL Treatment in Stage IV Gastric Cancer
ACTIVE NOT RECRUITINGHuman Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools