Gene: IL2RA
Alternate names for this Gene: CD25|IDDM10|IL2R|IMD41|TCGFR|p55
Gene Summary: The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. A cytokine profile that includes IL2R in plasma of patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been reported to be significantly elevated.
Gene is located in Chromosome: 10
Location in Chromosome : 10p15.1
Description of this Gene: interleukin 2 receptor subunit alpha
Type of Gene: protein-coding
rs12722486 in
IL2RA gene and
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
rs12722486 in
IL2RA gene and
AIDS, PROGRESSION TO
PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
rs706778 in
IL2RA gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs706778 in
IL2RA gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs706778 in
IL2RA gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12722502 in
IL2RA gene and
Adult onset asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs61839660 in
IL2RA gene and
Allergic Reaction
PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
rs3118470 in
IL2RA gene and
Alopecia Areata
PMID 20596022 2010 Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
rs2104286 in
IL2RA gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12722502 in
IL2RA gene and
Asthma
PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
rs12722495 in
IL2RA gene and
Autoantibody measurement
PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
rs706778 in
IL2RA gene and
Autoimmune Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs706778 in
IL2RA gene and
Autoimmune thyroiditis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.
rs12722605 in
IL2RA gene and
C-reactive protein measurement
PMID 22228203 2012 A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
rs706778 in
IL2RA gene and
Celiac Disease
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12722502 in
IL2RA gene and
Childhood asthma
PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
rs2104286 in
IL2RA gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs706778 in
IL2RA gene and
Common Variable Immunodeficiency
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12722489 in
IL2RA gene and
Crohn Disease
PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12722495 in
IL2RA gene and
Diabetes Mellitus, Insulin-Dependent
PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
PMID 22293688 2012 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.
PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs61839660 in
IL2RA gene and
Eczema
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12722502 in
IL2RA gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs706779 in
IL2RA gene and
Graves Disease
PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.
rs12722486 in
IL2RA gene and
HIV-1, RESISTANCE TO
PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
rs12722486 in
IL2RA gene and
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
rs706779 in
IL2RA gene and
Hashimoto Disease
PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.
rs7893467 in
IL2RA gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs706778 in
IL2RA gene and
Immune System Diseases
PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
rs12722515 in
IL2RA gene and
Inflammatory Bowel Diseases
PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
rs706778 in
IL2RA gene and
Juvenile arthritis
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs2476491 in
IL2RA gene and
Juvenile pauciarticular chronic arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2476491 in
IL2RA gene and
Juvenile-Onset Still Disease
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs706778 in
IL2RA gene and
Lupus Erythematosus, Systemic
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs7090504 in
IL2RA gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1107345 in
IL2RA gene and
Marginal Zone B-Cell Lymphoma
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs1107345 in
IL2RA gene and
Multiple Sclerosis
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
PMID 28445677 2017 Overexpression of the Cytokine BAFF and Autoimmunity Risk.
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.
PMID 26819262 2016 Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis.
PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
PMID 19525953 2009 Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
rs12722486 in
IL2RA gene and
Neuropathy
PMID 24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
rs2476491 in
IL2RA gene and
Oligoarticular Juvenile Idiopathic Arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2476491 in
IL2RA gene and
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs3134883 in
IL2RA gene and
Primary sclerosing cholangitis
PMID 21151127 2011 Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.
rs2104286 in
IL2RA gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs12722547 in
IL2RA gene and
Respiratory Tract Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2104286 in
IL2RA gene and
Rheumatoid Arthritis
PMID 24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
rs2476491 in
IL2RA gene and
Rheumatoid Arthritis, Systemic Juvenile
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs2476491 in
IL2RA gene and
Systemic onset juvenile chronic arthritis
PMID 23603761 2013 Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
rs17149458 in
IL2RA gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs2104286 in
IL2RA gene and
Ulcerative Colitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 26301688 2015 Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
rs706779 in
IL2RA gene and
Vitiligo
PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
PMID 21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
rs3118469 in
IL2RA gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.