IL9R

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Description

The IL9R (interleukin 9 receptor) is a protein-coding gene located on chromosome X|Y.

The Interleukin 9 receptor (IL9R), also known as CD129, is a type I cytokine receptor. It is encoded by the IL9R gene and mediates the biological effects of interleukin 9 (IL9). The functional IL9R complex is formed by the IL9R protein and the interleukin 2 receptor, gamma (IL2RG), a common subunit shared by various cytokine receptors. Ligand binding to IL9R activates JAK kinases and STAT proteins, triggering diverse biological responses. The gene is located in the pseudoautosomal regions of the X and Y chromosomes. Studies suggest an association between this gene and the development of asthma. Multiple pseudogenes are found on chromosomes 9, 10, 16, and 18. Alternative splicing results in various transcript variants encoding different isoforms. IL9R interacts with the YWHAZ protein.

IL9R is also known as CD129, IL-9R.

Associated Diseases

• common variable immunodeficiency
• inborn error of immunity
• severe combined immunodeficiency due to CARD11 deficiency
• autoimmune lymphoproliferative syndrome
• severe combined immunodeficiency due to CTPS1 deficiency
• reticular dysgenesis
• immunodeficiency 18
• autosomal systemic lupus erythematosus type 16
• immunodeficiency 25
• Wiskott-Aldrich syndrome
• C1 inhibitor deficiency
• autoimmune lymphoproliferative syndrome type 2A
• Norrie disease
• autoimmune lymphoproliferative syndrome type 4
• combined immunodeficiency due to partial RAG1 deficiency
• severe combined immunodeficiency due to LAT deficiency
• Cernunnos-XLF deficiency
• IgAD1