IL2 Gene - Interleukin-2: Function, Expression, and Clinical Significance
A comprehensive biomedical overview of the IL2 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | IL2 |
|---|---|
| Full Name | Interleukin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 3558 ncbi.nlm.nih.gov/gene/3558 |
| Ensembl ID | ENSG00000109471 |
| UniProt ID | P60568 |
| OMIM ID | 147680 |
| HGNC ID | 6001 |
| Aliases | TCGF, lymphokine |
Description
The IL2 gene encodes interleukin-2, a potent cytokine produced by activated T cells. IL-2 is essential for T cell proliferation, differentiation, and survival, and also regulates natural killer (NK) cells and B cells. It signals through the IL-2 receptor (IL-2R) and is critical for immune homeostasis, immune tolerance, and memory T cell formation. Dysregulation of IL2 expression is implicated in autoimmune diseases, immunodeficiencies, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune diseases (e.g., type 1 diabetes, rheumatoid arthritis) | Genetic variants in IL2 and its receptor affect immune tolerance, leading to autoreactive T cell survival. | GWAS and functional studies (OMIM, ClinVar) |
| Immunodeficiency (e.g., severe combined immunodeficiency, SCID) | Loss-of-function mutations in IL2 or IL2R impair T cell activation and immune response. | Case reports and functional assays (OMIM, ClinVar) |
| Cancer (e.g., melanoma, renal cell carcinoma) | IL-2 is used as an immunotherapeutic agent; tumor microenvironment can alter IL2 expression, affecting anti-tumor immunity. | Clinical trials and expression studies (COSMIC, PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 0.3 | Low |
| Spleen | 0.2 | Low |
| Bone marrow | 0.1 | Low |
| Thymus | 0.1 | Low |
| Peripheral blood | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| T cells (activated) | High (nTPM not specified) | IL2 is highly induced upon T cell activation. |
| NK cells | Moderate | IL2 is produced by activated NK cells. |
| B cells | Low | IL2 is not typically expressed in resting B cells. |
| HeLa (cervical cancer) | Low | Minimal expression in this cell line. |
| K562 (leukemia) | Low | Minimal expression in this cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2069762 (promoter variant) | SNP | Common (allele frequency ~30%) | Associated with altered IL2 production and autoimmune disease risk. |
| c.238G>A (p.Val80Met) | Missense | Rare | May affect IL-2 receptor binding and signaling. |
| c.1A>G (p.Met1Val) | Missense | Very rare | Potential loss of function, leading to immunodeficiency. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL2 (e.g., complete deletion or severe missense) impair T cell activation and immune responses, leading to immunodeficiency and increased susceptibility to infections.
Gain of Function (GOF)
Gain-of-function mutations are rare; however, overexpression of IL2 can contribute to autoimmune pathology by promoting autoreactive T cell survival.
Dominant Negative (DN)
Dominant-negative mutations in IL2 are not well documented; however, mutations that disrupt receptor binding could potentially act in a dominant-negative manner if the mutant protein interferes with receptor signaling.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-2 receptor binding |
| • growth factor activity | • extracellular space |
| • immune response | • T cell proliferation |
| • regulation of regulatory T cell differentiation |
Pathways
• JAK-STAT signaling pathway
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• T cell receptor signaling pathway
• Cytokine-cytokine receptor interaction
Protein Summary
Interleukin-2 (IL-2) is a 15.5 kDa glycoprotein composed of 153 amino acids. It adopts a four-helix bundle structure typical of type I cytokines. IL-2 binds to the IL-2 receptor (IL-2R) complex, which consists of IL-2Rα (CD25), IL-2Rβ (CD122), and the common gamma chain (γc, CD132). This binding triggers intracellular signaling cascades, primarily the JAK-STAT pathway, leading to gene expression changes that drive T cell proliferation and effector function. IL-2 also promotes the survival and function of regulatory T cells (Tregs), which are crucial for immune tolerance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL20 Knockout HEK293 Cell Line | EDJ-KQ132 | Human | 50604 | Details Get a Quote |
| IL24 Knockout HEK293 Cell Line | EDJ-KQ133 | Human | 11009 | Details Get a Quote |
| IL20RA Knockout HEK293 Cell Line | EDJ-KQ486 | Human | 53832 | Details Get a Quote |
| IL20RB Knockout HEK293 Cell Line | EDJ-KQ487 | Human | 53833 | Details Get a Quote |
| IL21R Knockout HEK293 Cell Line | EDJ-KQ488 | Human | 50615 | Details Get a Quote |
| IL22 Knockout HEK293 Cell Line | EDJ-KQ489 | Human | 50616 | Details Get a Quote |
| IL22RA2 Knockout HEK293 Cell Line | EDJ-KQ490 | Human | 116379 | Details Get a Quote |
| IL23A Knockout HEK293 Cell Line | EDJ-KQ491 | Human | 51561 | Details Get a Quote |
| IL27RA Knockout HEK293 Cell Line | EDJ-KQ492 | Human | 9466 | Details Get a Quote |
| IL2RA Knockout HEK293 Cell Line | EDJ-KQ493 | Human | 3559 | Details Get a Quote |
| IL2RB Knockout HEK293 Cell Line | EDJ-KQ494 | Human | 3560 | Details Get a Quote |
| IL2RG Knockout HEK293 Cell Line | EDJ-KQ495 | Human | 3561 | Details Get a Quote |
| IL25 Knockout HEK293 Cell Line | EDJ-KQ570 | Human | 64806 | Details Get a Quote |
| NEIL2 Knockout HEK293 Cell Line | EDJ-KQ2139 | Human | 252969 | Details Get a Quote |
| IL21 Knockout HEK293 Cell Line | EDJ-KQ2181 | Human | 59067 | Details Get a Quote |
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