IL2RA Gene: Interleukin 2 Receptor Subunit Alpha
A key regulator of immune cell activation and autoimmune susceptibility
Gene Information Card
| Symbol | IL2RA |
|---|---|
| Full Name | Interleukin 2 Receptor Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 3559 ncbi.nlm.nih.gov/gene/3559 |
| Ensembl ID | ENSG00000134460 |
| UniProt ID | P01589 |
| OMIM ID | 147730 |
| HGNC ID | 6008 |
| Aliases | CD25, IDDM10, IL2R, TCGFR |
Description
The IL2RA gene encodes the alpha subunit of the interleukin-2 receptor (IL-2R), a high-affinity receptor for interleukin-2. This subunit, also known as CD25, is essential for T cell proliferation, activation, and immune regulation. IL2RA expression is tightly regulated and is a marker for regulatory T cells. Genetic variants in IL2RA are associated with autoimmune diseases such as type 1 diabetes and multiple sclerosis, as well as immunodeficiency syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 1 Diabetes | IL2RA variants alter IL-2 signaling, impairing regulatory T cell function and promoting autoimmunity | OMIM 147730; NCBI Gene |
| Multiple Sclerosis | Polymorphisms in IL2RA affect immune cell activation and susceptibility to demyelination | OMIM 147730; NCBI Gene |
| Immunodeficiency 41 (IMD41) | Loss-of-function mutations in IL2RA disrupt high-affinity IL-2 binding, leading to severe combined immunodeficiency | OMIM 147730; ClinVar |
| Autoimmune Lymphoproliferative Syndrome (ALPS) | IL2RA mutations impair apoptosis and T cell homeostasis, causing lymphoproliferation | OMIM 147730; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph Node | 12.5 | High |
| Spleen | 10.8 | High |
| Blood | 8.2 | Medium |
| Bone Marrow | 6.1 | Medium |
| Lung | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 15.0 | High expression of CD25 |
| Raji (Burkitt lymphoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Thr67Ile) | Missense | Rare | Reduced IL-2 binding affinity; associated with IMD41 |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Impaired receptor signaling; linked to autoimmunity |
| rs2104286 | Intronic variant | Common (MAF ~0.2) | Risk allele for type 1 diabetes and multiple sclerosis |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL2RA (e.g., p.Thr67Ile) disrupt IL-2 binding and receptor signaling, leading to immunodeficiency (IMD41).
Gain of Function (GOF)
No well-characterized gain-of-function mutations are reported in IL2RA.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for IL2RA mutations.
View complete mutation data：
Gene Ontology (GO)
| • Interleukin-2 receptor activity (GO:0004911) | • Interleukin-2 binding (GO:0019976) |
| • Receptor signaling protein activity (GO:0005057) | • Cell surface receptor signaling pathway (GO:0007166) |
| • T cell proliferation (GO:0042098) | • Regulation of immune response (GO:0050776) |
Pathways
• IL-2 signaling pathway (Reactome: R-HSA-451927)
• JAK-STAT signaling pathway (KEGG: hsa04630)
• T cell receptor signaling pathway (KEGG: hsa04660)
• Regulation of activated T cell proliferation (Reactome: R-HSA-202430)
Protein Summary
The IL2RA protein (CD25) is a 55 kDa transmembrane glycoprotein that forms the high-affinity IL-2 receptor complex with IL2RB (CD122) and IL2RG (CD132). It is expressed on activated T cells, regulatory T cells, and some B cells. CD25 binds IL-2 with low affinity alone but increases receptor affinity when complexed. The intracellular domain is short and lacks catalytic activity; signaling is mediated through associated subunits. CD25 is a key marker for regulatory T cells and is targeted in immunotherapy for certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL2RA Knockout HEK293 Cell Line | EDJ-KQ493 | Human | 3559 | Details Get a Quote |
| IL2RA Knockout HeLa Cell Line | EDJ-KQ53631 | Human | 3559 | Details Get a Quote |
| IL2RA Knockout A-549 Cell Line | EDJ-KQ62106 | Human | 3559 | Details Get a Quote |
| IL2RA Knockout HCT 116 Cell Line | EDJ-KQ70593 | Human | 3559 | Details Get a Quote |
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