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RNA tissue category: Group enriched (lung, small intestine, spleen)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (lymph node)
GENE INFORMATION
Gene name
IL7R (HGNC Symbol)
Synonyms
CD127
Description
Interleukin 7 receptor (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene is a receptor for interleukine 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2014]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014)