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

Gene ID: 3559, updated on 22-Mar-2020

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.[provided by RefSeq, Nov 2009]
Expression
Biased expression in lymph node (RPKM 8.0), appendix (RPKM 7.2) and 13 other tissues See more
Orthologs

Genomic context

See IL2RA in Genome Data Viewer
Location:
10p15.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (6010689..6062367, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (6052657..6104333, 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
Diabetes mellitus, insulin-dependent, 10
MedGen: C1866040 OMIM: 601942 GeneReviews: Not available
Compare labs
Interleukin 2 receptor, alpha, deficiency of
MedGen: C1853392 OMIM: 606367 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.
NHGRI GWA Catalog
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study of bronchodilator response in asthmatics.
NHGRI GWA Catalog
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
NHGRI GWA Catalog
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
NHGRI GWA Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
NHGRI GWA Catalog
Risk alleles for multiple sclerosis identified by a genomewide study.
NHGRI GWA Catalog
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
NHGRI GWA Catalog

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
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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
activation-induced cell death of T cells IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-2-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of defense response to virus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of activated T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell homeostatic proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of T cell tolerance induction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of regulatory T cell differentiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
interleukin-2 receptor complex TAS
Traceable Author Statement
more info
PubMed 
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)

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.

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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