IL33
Chr 9interleukin 33
Also known as: C9orf26, DVS27, IL1F11, NF-HEV, NFEHEV
The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene — mechanism propensity
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
59 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 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 42 | 0 | 0 | 42 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 3 | 1 | 2 | 6 |
| Total | 0 | 48 | 1 | 2 | 51 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →156 pathogenic / likely-pathogenic (of 163) ClinVar copy-number / structural variants overlap IL33 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
IL33 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
The Role of Cytokines and Regulatory T Lymphocytes in Migraine Pathophysiology.
RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGRespiratory Microbiota, Infection Characteristics and Imaging Manifestations in Patients With Chronic Airway Inflammation
NOT YET RECRUITINGEvaluation of Urolithin A and Fisetin on Improving Sleep and Aging Biomarkers
RECRUITINGThe Value of Interleukin-1β and Interleukin-33 Genetic Expression in the Pathogenesis and Differentiation of Primary ITP and SLE-Related Thrombocytopenia
NOT YET RECRUITINGMetformin Treatment for Children With Obesity-associated Asthma
NOT YET RECRUITINGA Study of Apabetalone in Subjects With Long -COVID
RECRUITINGDisease Biosignatures in ALS/FTD Spectrum: New Impactful Biological Perspectives Beyond Clinical Approaches
RECRUITINGInflammation and Oxidative Stress in COPD
ENROLLING BY INVITATIONA Study to Evaluate 9MW1911 in Patients With Chronic Obstructive Pulmonary Disease (COPD)
RECRUITINGThe CATALINA Study
RECRUITINGMulti-Strain Probiotics Supplementation With Standard Care in Mild to Moderate Ulcerative Colitis
RECRUITINGExternal Resources
Links to major genomics databases and tools