IL2RB Gene: Structure, Function, and Clinical Significance
Comprehensive guide to the IL2RB gene, encoding the interleukin-2 receptor subunit beta, including genomic information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | IL2RB |
|---|---|
| Full Name | Interleukin 2 receptor subunit beta |
| Gene Type | protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 3560 ncbi.nlm.nih.gov/gene/3560 |
| Ensembl ID | ENSG00000100385 |
| UniProt ID | P14784 |
| OMIM ID | 146710 |
| HGNC ID | 6009 |
| Aliases | CD122, IL15RB, P70-75, IMD63 |
Description
The IL2RB gene encodes the beta subunit of the interleukin-2 receptor (IL-2R), a type I transmembrane protein that is essential for IL-2 signaling. It forms a complex with the common gamma chain (IL2RG) and, in some contexts, the alpha subunit (IL2RA) to create high-affinity receptors. IL2RB is also a component of the IL-15 receptor. Signaling through IL2RB activates JAK1/STAT5, PI3K, and MAPK pathways, promoting T cell proliferation, differentiation, and survival. Mutations in IL2RB can lead to immune dysregulation and are associated with various diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 63 (IMD63) | Loss-of-function mutations impair IL-2/IL-15 signaling, leading to defective T cell and NK cell function. | ClinVar, OMIM |
| Multiple sclerosis | Genetic variants in IL2RB are associated with increased risk, possibly affecting regulatory T cell function. | GWAS studies, ClinVar |
| Type 1 diabetes | Polymorphisms in IL2RB have been linked to susceptibility, influencing immune tolerance. | ClinVar, literature |
| Inflammatory bowel disease | IL2RB variants may contribute to altered immune responses in the gut. | ClinVar, literature |
| Cutaneous T-cell lymphoma | Somatic mutations in IL2RB may contribute to aberrant IL-2 signaling in malignant T cells. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.8 | High |
| Spleen | 11.5 | High |
| Bone marrow | 8.9 | Medium |
| Blood | 7.2 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 15.3 | High expression; used in IL-2 signaling studies |
| K-562 (CML) | 8.7 | Moderate expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| A549 (lung carcinoma) | 1.8 | Low expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.455G>A (p.Arg152His) | Missense | Rare | Impairs IL-2 binding and signaling; associated with immunodeficiency |
| c.676C>T (p.Arg226Ter) | Nonsense | Rare | Truncated protein; loss of function leading to IMD63 |
| c.1015A>G (p.Thr339Ala) | Missense | 0.1% in population | May affect receptor stability; clinical significance uncertain |
| c.1240C>T (p.Arg414Cys) | Missense | Somatic in CTCL | Gain-of-function?; may enhance STAT5 signaling in tumors |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair IL-2/IL-15 signaling, leading to immune deficiency and autoimmunity.
Gain of Function (GOF)
Somatic mutations in certain cancers may enhance proliferative signaling, contributing to tumor growth.
Dominant Negative (DN)
Some mutations may produce a truncated receptor that interferes with wild-type function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • interleukin-2 receptor activity | • interleukin-15 receptor activity |
| • protein binding | • signal transducer activity |
| • plasma membrane | • integral component of membrane |
| • JAK-STAT cascade | • cell surface receptor signaling pathway |
| • positive regulation of cell population proliferation | • immune response |
Pathways
• IL-2 signaling pathway
• IL-15 signaling pathway
• JAK-STAT signaling pathway
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• T cell receptor signaling pathway
Protein Summary
The IL2RB protein (also known as CD122) is a 525-amino acid type I membrane protein with a large extracellular domain, a single transmembrane region, and a cytoplasmic tail containing binding sites for JAK1 and STAT5. It is expressed on T cells, NK cells, and other immune cells. Upon IL-2 binding, IL2RB heterodimerizes with IL2RG, activating JAK1 and JAK3, which phosphorylate tyrosine residues on the receptor, recruiting STAT5 and other signaling molecules. This leads to transcriptional changes that promote lymphocyte proliferation, differentiation, and survival. IL2RB is also critical for IL-15 signaling, which is important for NK cell development and memory T cell maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL2RB Knockout HEK293 Cell Line | EDJ-KQ494 | Human | 3560 | Details Get a Quote |
| IL2RB Knockout HeLa Cell Line | EDJ-KQ53632 | Human | 3560 | Details Get a Quote |
| IL2RB Knockout A-549 Cell Line | EDJ-KQ62107 | Human | 3560 | Details Get a Quote |
| IL2RB Knockout HCT 116 Cell Line | EDJ-KQ70594 | Human | 3560 | Details Get a Quote |
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