Gene: IL7R

Alternate names for this Gene: CD127|CDW127|IL-7R-alpha|IL7RA|ILRA

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: interleukin 7 receptor

Type of Gene: protein-coding

rs1057519759 in IL7R gene and Acute lymphoblastic leukemia with lymphomatous features PMID 22955920 2012 Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.

PMID 22897847 2012 Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.

rs6881270 in IL7R gene and Allergic Reaction PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs7717955 in IL7R gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs6881270 in IL7R gene and Asthma PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs6451229 in IL7R gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs6881706 in IL7R gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6881706 in IL7R gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

rs6897932 in IL7R gene and Primary biliary cirrhosis PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.

rs104893894 in IL7R gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 11023514 2000 A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.

PMID 9843216 1998 Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

PMID 27833609 2016 A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.

PMID 17827065 2007 IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

PMID 24759676 2014 Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

PMID 15661025 2005 Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

PMID 16492442 2006 Omenn syndrome in an infant with IL7RA gene mutation.

PMID 25046553 2014 Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.

rs3194051 in IL7R gene and Ulcerative Colitis PMID 21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

rs3822733 in IL7R gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.