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IL7R interleukin 7 receptor

Gene ID: 3575, updated on 17-Jan-2022
Gene type: protein coding
Also known as: ILRA; CD127; IL7RA; CDW127; IL-7R-alpha

Summary

The protein encoded by this gene is a receptor for interleukin 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 interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
GeneReviews: Not available
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
GeneReviews: Not available
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.
GeneReviews: Not available
Risk alleles for multiple sclerosis identified by a genomewide study.
GeneReviews: Not available
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
GeneReviews: Not available
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
MedGen: C1837028OMIM: 608971GeneReviews: Not available
See labs

Genomic context

Location:
5p13.2
Sequence:
Chromosome: 5; NC_000005.10 (35856891..35879603)
Total number of exons:
8

Links

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