IL2
Chr 4interleukin 2
Also known as: IL-2, TCGF, lymphokine
This gene encodes interleukin-2, a cytokine secreted by activated T cells that promotes T and B cell proliferation, regulates immune tolerance through regulatory T cells, and activates natural killer cells via JAK-STAT signaling pathways. Mutations cause severe combined immunodeficiency with autoimmunity, alopecia, and erythroderma (SCIDAAE), an autosomal recessive primary immunodeficiency presenting in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.81), reflecting its critical role in immune system regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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
27 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 | 1 | 0 | 21 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 0 | 3 | 0 | 3 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 1 | 25 | 0 | 27 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IL2 · 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
TCR-T Cells for the Treatment NY-ESO-1-positive Advanced Solid Tumors
NOT YET RECRUITINGPhysical Activity on Neuroinflammation in Parkinson's Disease
RECRUITINGPain in Endometriosis And the Relation to Lifestyle
RECRUITINGAdoptive T Cell Immunotherapy for Advanced Melanoma Using Engineered Lymphocytes
RECRUITINGClinical Study of EBV-TCR-T Cells for EBV Infection After Allogenic HSCT
RECRUITINGPhase 1 Study Evaluating Safety and Tolerability of SL-T10, GX-I7, and Pembrolizumab Triple Combination in mCRPC.
RECRUITINGClinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy (LGMD R2) in the RF
ENROLLING BY INVITATIONRare Tumor Focused Platform Study of Innovative Therapies and Technologies (PLATFORM2)
NOT YET RECRUITINGReinforcement Learning and Obsessive-compulsive Disorder: Exploring the Role of the Orbitofrontal Cortex
RECRUITINGEvaluation of the Efficacy of Calcium a -Ketoglutarate(AKG-Ca) in Improving Human Aging
ACTIVE NOT RECRUITINGBiomarkers in Systemic Histiocytosis
NOT YET RECRUITINGStudy of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients
RECRUITINGExternal Resources
Links to major genomics databases and tools