IL21R Gene (Interleukin 21 Receptor)
Cytokine receptor critical for immune regulation and implicated in immunodeficiency and autoimmunity
Gene Information Card
| Symbol | IL21R |
|---|---|
| Full Name | Interleukin 21 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 50615 ncbi.nlm.nih.gov/gene/50615 |
| Ensembl ID | ENSG00000103522 |
| UniProt ID | Q9HBE5 |
| OMIM ID | 605383 |
| HGNC ID | 6008 |
| Aliases | CD360, NILR, IL-21R |
Description
The IL21R gene encodes the interleukin 21 receptor, a type I cytokine receptor that binds interleukin 21 (IL-21). Upon ligand binding, the receptor activates JAK-STAT signaling pathways, primarily STAT3, and plays a key role in the differentiation and function of T cells, B cells, and natural killer (NK) cells. IL21R is essential for germinal center formation, immunoglobulin class switching, and antiviral immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 56 (IMD56) | Loss-of-function mutations in IL21R impair IL-21 signaling, leading to defective B cell differentiation and antibody production. | ClinVar, OMIM |
| Common variable immunodeficiency (CVID) | Homozygous IL21R mutations cause early-onset CVID with recurrent infections and low immunoglobulins. | OMIM, NCBI |
| Inflammatory bowel disease (IBD) | IL21R polymorphisms are associated with increased risk of Crohn's disease and ulcerative colitis via altered Th17 responses. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 6.2 | Low |
| Lung | 3.1 | Low |
| Small intestine | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell line) | 15.3 | High expression |
| Jurkat (T cell line) | 8.7 | Moderate expression |
| Raji (B cell line) | 6.4 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | Rare | Loss of IL-21 binding; associated with IMD56 |
| c.622C>T (p.Arg208*) | Nonsense | Rare | Premature stop; loss of function in CVID |
| c.1043_1044del (p.Leu348Argfs*5) | Frameshift | Rare | Truncated receptor; impaired STAT3 signaling |
Mutation functional classification
Loss of Function (LOF)
Most reported IL21R mutations are loss-of-function, leading to impaired IL-21 signaling and immunodeficiency.
Gain of Function (GOF)
No gain-of-function mutations have been clinically validated in IL21R.
Dominant Negative (DN)
No dominant-negative mutations have been described for IL21R.
View complete mutation data：
Gene Ontology (GO)
Pathways
• JAK-STAT signaling pathway (KEGG: hsa04630)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• IL-21 signaling (Reactome: R-HSA-9020958)
Protein Summary
The IL-21 receptor (IL-21R) is a 538-amino-acid transmembrane protein with an extracellular domain containing a WSXWS motif characteristic of type I cytokine receptors. It forms a heterodimeric complex with the common gamma chain (γc, encoded by IL2RG) to transduce IL-21 signals. The intracellular domain contains Box1 and Box2 motifs that recruit JAK1 and JAK3, leading to STAT3 phosphorylation and transcriptional activation of target genes involved in immune cell differentiation and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL21R Knockout HEK293 Cell Line | EDJ-KQ488 | Human | 50615 | Details Get a Quote |
| IL21R Knockout HeLa Cell Line | EDJ-KQ56173 | Human | 50615 | Details Get a Quote |
| IL21R Knockout A-549 Cell Line | EDJ-KQ64663 | Human | 50615 | Details Get a Quote |
| IL21R Knockout HCT 116 Cell Line | EDJ-KQ73112 | Human | 50615 | Details Get a Quote |
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