IL4R

Chr 16

interleukin 4 receptor

Also known as: CD124, IL-4RA, IL4RA

NCBI Gene: 3566 ENSG00000077238 UniProt: P24394 OMIM: 147781

The IL4R protein is the alpha chain of the interleukin-4 receptor that binds IL-4 and IL-13 to regulate IgE production and promote Th2 cell differentiation through the JAK-STAT6 pathway. Mutations are associated with atopy manifesting as allergic rhinitis, asthma, eczema, or sinusitis, with autosomal recessive inheritance patterns reported for severe forms. The gene shows low constraint to loss-of-function variation, suggesting tolerance to reduced protein levels.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.83

LOEUF

Multiple*

Mechanism· predicted