IL9R Gene - Interleukin 9 Receptor
Cytokine receptor subunit involved in immune regulation and hematopoiesis
Gene Information Card
| Symbol | IL9R |
|---|---|
| Full Name | Interleukin 9 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 and Yq12 (pseudoautosomal region 1) |
| NCBI Gene ID | 3581 ncbi.nlm.nih.gov/gene/3581 |
| Ensembl ID | ENSG00000124334 |
| UniProt ID | Q01113 |
| OMIM ID | 300007 |
| HGNC ID | 5979 |
| Aliases | CD129, IL9R1 |
Description
The IL9R gene encodes the interleukin 9 receptor, a type I cytokine receptor that forms a heterodimer with the common gamma chain (IL2RG). IL9R is expressed on hematopoietic cells, T cells, mast cells, and epithelial cells. Binding of IL-9 activates JAK-STAT signaling, primarily STAT3 and STAT5, promoting cell proliferation, survival, and differentiation. IL9R is implicated in asthma, allergic inflammation, and certain lymphomas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | IL9R signaling enhances mast cell and eosinophil activation, contributing to airway hyperresponsiveness | NCBI Gene, OMIM |
| Hodgkin lymphoma | IL9R overexpression in Hodgkin/Reed-Sternberg cells promotes autocrine growth via IL-9 | COSMIC, PubMed |
| T-cell acute lymphoblastic leukemia (T-ALL) | IL9R gain-of-function mutations (e.g., S196L) drive constitutive JAK-STAT activation | COSMIC, ClinVar |
| Allergic rhinitis | IL9R polymorphisms associated with increased IgE levels and nasal inflammation | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Spleen | 1.2 | Low |
| Bone marrow | 2.5 | Medium |
| Lymph node | 3.1 | Medium |
| Thymus | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 4.5 | High expression |
| K562 (erythroleukemia) | 0.3 | Very low |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
| MOLT-4 (T-ALL) | 6.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| S196L | Missense | <1% | Gain-of-function; constitutive JAK-STAT activation in T-ALL |
| P351S | Missense | <1% | Unknown functional effect; reported in COSMIC |
| c.1A>G | Start loss | <0.1% | Loss-of-function; reduced receptor expression |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., c.1A>G) reduce IL9R protein expression and signaling.
Gain of Function (GOF)
Missense mutations (e.g., S196L) cause constitutive activation of JAK-STAT pathway, linked to T-ALL.
Dominant Negative (DN)
No dominant-negative mutations reported for IL9R.
View complete mutation data：
Gene Ontology (GO)
Pathways
• JAK-STAT signaling pathway (KEGG: hsa04630)
• IL-9 signaling pathway (Reactome: R-HSA-8984722)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
IL9R is a 522-amino acid transmembrane glycoprotein with an extracellular N-terminal domain containing a fibronectin type III domain, a transmembrane region, and a cytoplasmic tail with Box1/Box2 motifs for JAK binding. It forms a functional receptor complex with IL2RG. Upon IL-9 binding, JAK1 and JAK3 are activated, leading to phosphorylation of STAT3 and STAT5, which translocate to the nucleus to regulate gene expression. IL9R is critical for T-cell and mast cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL9R Knockout HEK293 Cell Line | EDJ-KQ503 | Human | 3581 | Details Get a Quote |
| IL9R Knockout HeLa Cell Line | EDJ-KQ53643 | Human | 3581 | Details Get a Quote |
| IL9R Knockout A-549 Cell Line | EDJ-KQ62118 | Human | 3581 | Details Get a Quote |
| IL9R Knockout HCT 116 Cell Line | EDJ-KQ70607 | Human | 3581 | Details Get a Quote |
