IL4R

Description

The IL4R (interleukin 4 receptor) is a protein-coding gene located on chromosome 16.

The interleukin 4 receptor (IL4R) is a type I cytokine receptor, composed of two subunits. IL4R is the human gene encoding IL-4Rα, the subunit that combines with either the common gamma chain (γc), forming the type I IL4 receptor, or with IL-13Rα1, forming the type II IL4 receptor. IL4R plays a crucial role in regulating IgE antibody production in B cells by binding IL4 and IL13. It also promotes differentiation of Th2 cells in T cells. A soluble form of IL4R can be produced through alternative splicing or proteolysis, and this form inhibits IL4-mediated cell proliferation and IL5 upregulation by T-cells. Genetic variations in IL4R have been linked to atopy, a condition characterized by allergic rhinitis, sinusitis, asthma, or eczema. The gene produces two transcript variants encoding different isoforms, a membrane-bound and a soluble form. Interactions between IL-4 and TNFα induce structural changes in vascular endothelial cells, contributing to tissue inflammation. The binding of IL-4 or IL-13 to IL-4R on macrophages triggers alternative activation of these cells.

The IL4R protein acts as a receptor for both interleukin 4 (IL4) and interleukin 13 (IL13), triggering the JAK1/2/3-STAT6 signaling pathway. IL4 signaling through IL4R promotes Th2 differentiation, a critical step in the immune response. IL4 and IL13, acting through IL4R, regulate IgE production and the release of chemokines and mucus at sites of allergic inflammation. In specific cell types, IL4R can also activate insulin receptor substrates, IRS1/IRS2, expanding its signaling capabilities.

IL4R is also known as CD124, IL-4RA, IL4RA.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing