IL4R Chromosome 16

Interleukin 4 receptor
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Interleukin receptors"
Locus Type
gene with protein product
Location
16p12.1
Ensembl
ENSG00000077238
Associated Conditions (4)
IgE responsiveness
atopic
Susceptibility to HIV infection
IL4R-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS6413500 Health Risk Conflicting classifications of pathogenicity IgE responsiveness, atopic, Susceptibility to HIV infection
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