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    IL2RA interleukin 2 receptor subunit alpha [ Homo sapiens (human) ]

    Gene ID: 3559, updated on 8-Jul-2021

    Summary

    Official Symbol
    IL2RAprovided by HGNC
    Official Full Name
    interleukin 2 receptor subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:6008
    See related
    Ensembl:ENSG00000134460 MIM:147730
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p55; CD25; IL2R; IMD41; TCGFR; IDDM10
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
    Expression
    Biased expression in lymph node (RPKM 8.0), appendix (RPKM 7.2) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See IL2RA in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (6010689..6062367, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (6052652..6104330, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene F-box DNA helicase 1 Neighboring gene uncharacterized LOC105376384 Neighboring gene uncharacterized LOC107984200 Neighboring gene interleukin 15 receptor subunit alpha Neighboring gene uncharacterized LOC107984201 Neighboring gene ribosomal protein L32 pseudogene 23 Neighboring gene RNA binding motif protein 17

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    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
    Diabetes mellitus, insulin-dependent, 10
    MedGen: C1866040 OMIM: 601942 GeneReviews: Not available
    Compare labs
    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
    Interleukin 2 receptor, alpha, deficiency of
    MedGen: C1853392 OMIM: 606367 GeneReviews: Not available
    Compare 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
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of interleukin 2 receptor, alpha (IL2RA, CD25) in human B cells PubMed
    env CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1 PubMed
    env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed
    env HIV-1 gp120 exerts a dose-dependent reduction of IL-2 mRNA expression, IL-2 production, and surface IL-2 receptor expression in CD4+ lymphocytes PubMed
    Envelope transmembrane glycoprotein gp41 env An HIV-1 gp41 peptide (amino acid residues 581-597) inhibits both protein kinase C (PKC)-dependent interleukin 2 (IL 2) production and the [Ca2+]i influx-dependent but PKC-independent induction of IL 2 receptor expression PubMed
    Nef nef Cells expressing HIV-1 Nef from long-term non-progressors and progressive infection patients induce higher surface levels of CD69 and CD25 than cells producing HIV-2 or SIV Nef PubMed
    nef HIV-1 Nef expression in the CD4+ T-cell line MT2 and in PHA-activated PBMCs downregulates the expression of IL-2R from the cell surface PubMed
    nef HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells PubMed
    Pr55(Gag) gag MVA-gag induces a significant release of cytokines such as IL-2R, IL-6, IL-8, TNF-alpha, IFN-gamma, MCP-1, MIP-1alpha, MIP-1beta, and RANTES by the infected monocyte-derived dendritic cells in comparison with uninfected cells PubMed
    Tat tat Four mutations (C27S, K51T, R55L, and G79A) on HIV-1 Tat result in the loss of the deleterious effects of Tat on the expression of MHC I, IL-2, and CD25 genes compared with wild-type Tat in Jurkat cells PubMed
    tat HIV-1 Tat upregulates IL-2Ralpha (CD25) in PBMCs and purified T cells through integrins alpha-3 and alpha-5 PubMed
    tat HIV-1 Tat downregulates IL-2R in Jurkat and H9 T-cell lines, an effect that may contribute to the immunosuppressive effects of HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables interleukin-2 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to interleukin-2 receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of interleukin-2 receptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-2 receptor subunit alpha
    Names
    IL-2 receptor subunit alpha
    IL-2R subunit alpha
    TAC antigen
    interleukin 2 receptor, alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007403.1 RefSeqGene

      Range
      4940..56616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_73

    mRNA and Protein(s)

    1. NM_000417.3NP_000408.1  interleukin-2 receptor subunit alpha isoform 1 precursor

      See identical proteins and their annotated locations for NP_000408.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL137186, AL157395, X01057
      Consensus CDS
      CCDS7076.1
      UniProtKB/Swiss-Prot
      P01589
      Related
      ENSP00000369293.3, ENST00000379959.8
      Conserved Domains (1) summary
      cd00033
      Location:125184
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    2. NM_001308242.2NP_001295171.1  interleukin-2 receptor subunit alpha isoform 2 precursor

      See identical proteins and their annotated locations for NP_001295171.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL137186, CD701954, K03122, X01057
      Consensus CDS
      CCDS76281.1
      UniProtKB/Swiss-Prot
      P01589
      UniProtKB/TrEMBL
      Q5W005
      Related
      ENSP00000369287.1, ENST00000379954.5
      Conserved Domains (1) summary
      pfam00084
      Location:2678
      Sushi; Sushi domain (SCR repeat)
    3. NM_001308243.2NP_001295172.1  interleukin-2 receptor subunit alpha isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL137186, CD701954, CR996090, X01057
      UniProtKB/Swiss-Prot
      P01589
      Conserved Domains (1) summary
      pfam00084
      Location:2678
      Sushi; Sushi domain (SCR repeat)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      6010689..6062367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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