IL33
Chr 9interleukin 33
Also known as: C9orf26, DVS27, IL1F11, NF-HEV, NFEHEV
IL33 encodes a cytokine that binds to the IL1RL1/ST2 receptor and activates NF-kappa-B and MAPK signaling pathways, playing essential roles in Th2 cell maturation and activation of mast cells, basophils, eosinophils, and natural killer cells. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), suggesting it tolerates heterozygous inactivating mutations well. No definitive Mendelian diseases have been established for IL33 mutations in current medical literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IL33 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Evaluation of Urolithin A and Fisetin on Improving Sleep and Aging Biomarkers
RECRUITINGRespiratory Microbiota, Infection Characteristics and Imaging Manifestations in Patients With Chronic Airway Inflammation
NOT YET RECRUITINGInflammation and Oxidative Stress in COPD
ENROLLING BY INVITATIONMulti-Strain Probiotics Supplementation With Standard Care in Mild to Moderate Ulcerative Colitis
RECRUITINGA Study to Evaluate 9MW1911 in Patients With Chronic Obstructive Pulmonary Disease (COPD)
RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGA Study of Apabetalone in Subjects With Long -COVID
RECRUITINGThe Role of Cytokines and Regulatory T Lymphocytes in Migraine Pathophysiology.
RECRUITINGDisease Biosignatures in ALS/FTD Spectrum: New Impactful Biological Perspectives Beyond Clinical Approaches
RECRUITINGThe CATALINA Study
RECRUITINGThe Value of Interleukin-1β and Interleukin-33 Genetic Expression in the Pathogenesis and Differentiation of Primary ITP and SLE-Related Thrombocytopenia
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools