GeneID: 139

Description:
This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that binds to haematopoietic cytokines, namely interleukin 4 (IL4) and interleukin 13 (IL13). It is a member of the haematopoietin receptor superfamily. Although it does not have tyrosine kinase domains, it can activate intracellular kinases leading to tyrosine phosphorylation of multiple substrates. The IL4/IL13 response is involved in regulating Th2 differentiation and IgE production, as well as the production of chemokines and mucus at sites of allergic inflammation. 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 associated with stroke in sickle cell patients. Alternate splicing results in multiple transcript variants.

Synonyms: CD124

Comments:
N/A

Number of entries/variants: 1

1. Wang LM, Keegan A, Frankel M, Paul WE, Pierce JH, Signal transduction through the IL-4 and insulin receptor families., Stem Cells , 13(4), 360-8, 1995 PubMed
2. Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004 PubMed
3. Hoppe C, Klitz W, D'Harlingue K, Cheng S, Grow M, Steiner L, Noble J, Adams R, Styles L, , Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia., Stroke , 38(8), 2241-6, 2007 PubMed
4. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed