IL2RA interleukin 2 receptor subunit alpha
Gene ID: 3559, updated on 23-Mar-2024Gene type: protein coding
Also known as: p55; CD25; IL2R; IMD41; TCGFR; IDDM10
- See all available tests in GTR for this gene
- Go to complete Gene record for IL2RA
- Go to Variation Viewer for IL2RA variants
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. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. GeneReviews: Not available | |
| A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available | |
| A genome-wide association study of bronchodilator response in asthmatics. GeneReviews: Not available | |
| A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. GeneReviews: Not available | |
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. GeneReviews: Not available | |
| Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency due to CD25 deficiency | See labs |
| Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. GeneReviews: Not available | |
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. GeneReviews: Not available | |
| Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. GeneReviews: Not available | |
| Risk alleles for multiple sclerosis identified by a genomewide study. GeneReviews: Not available | |
| Type 1 diabetes mellitus 10 | See labs |
| Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. GeneReviews: Not available |
Genomic context
- Location:
- 10p15.1
- Sequence:
- Chromosome: 10; NC_000010.11 (6010689..6062367, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IL2RA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- IL2RA database
- IL2RAbase: Mutation registry for Interleuken-2 receptor alpha deficiency
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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