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

Gene ID: 3559, updated on 12-Oct-2014
Official Symbol
IL2RAprovided by HGNC
Official Full Name
interleukin 2 receptor, alphaprovided by HGNC
Primary source
HGNC:HGNC:6008
Locus tag
RP11-536K7.1
See related
Ensembl:ENSG00000134460; HPRD:00986; MIM:147730; Vega:OTTHUMG00000017616
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; 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]
See IL2RA in Epigenomics, MapViewer
Location:
10p15-p14
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (6010694..6062370, 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 ankyrin repeat domain 16 Neighboring gene F-box protein, helicase, 18 Neighboring gene interleukin 15 receptor, alpha Neighboring gene uncharacterized LOC102723642 Neighboring gene ribosomal protein L32 pseudogene 23 Neighboring gene RNA binding motif protein 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 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

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 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 HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells 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
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 downregulates IL-2R in Jurkat and H9 T-cell lines, an effect that may contribute to the immunosuppressive effects of HIV-1 Tat PubMed
tat HIV-1 Tat upregulates IL-2Ralpha (CD25) in PBMCs and purified T cells through integrins alpha-3 and alpha-5 PubMed

Go to the HIV-1, Human Interaction Database

  • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 trafficking events, organism-specific biosystem
    Arf6 trafficking events
  • Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
  • Calcium signaling in the CD4+ TCR pathway, organism-specific biosystem (from Pathway Interaction Database)
    Calcium signaling in the CD4+ TCR pathway, organism-specific biosystem
    Calcium signaling in the CD4+ TCR pathway
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Downstream signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    Downstream signaling in naive CD8+ T cells, organism-specific biosystem
    Downstream signaling in naive CD8+ T cells
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • IL-2 Signaling pathway, organism-specific biosystem (from WikiPathways)
    IL-2 Signaling pathway, organism-specific biosystemIL-2 is a multifunctional cytokine with pleiotropic effects on several cells of the immune system. IL-2 was originally discovered as a T cell growth factor, but it was also found to have actions rela...
  • IL12 signaling mediated by STAT4, organism-specific biosystem (from Pathway Interaction Database)
    IL12 signaling mediated by STAT4, organism-specific biosystem
    IL12 signaling mediated by STAT4
  • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL12-mediated signaling events, organism-specific biosystem
    IL12-mediated signaling events
  • IL2 signaling events mediated by PI3K, organism-specific biosystem (from Pathway Interaction Database)
    IL2 signaling events mediated by PI3K, organism-specific biosystem
    IL2 signaling events mediated by PI3K
  • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
    IL2 signaling events mediated by STAT5, organism-specific biosystem
    IL2 signaling events mediated by STAT5
  • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    IL2-mediated signaling events, organism-specific biosystem
    IL2-mediated signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
    Inflammatory Response Pathway, organism-specific biosystem
    Inflammatory Response Pathway
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Measles, organism-specific biosystem (from KEGG)
    Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Measles, conserved biosystem (from KEGG)
    Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • TSLP Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TSLP Signaling Pathway, organism-specific biosystemThymic stromal lymphopoietin (TSLP) is a type I cytokine member of interleukin-2 cytokine family. TSLP signals through interleukin-7 receptor a chain (IL-7Ra) and the TSLP receptor subunit (TSLPR), h...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
drug binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-2 binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-2 receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 proliferation TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-2-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
interleukin-2-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
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
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
interleukin-2 receptor subunit alpha
Names
interleukin-2 receptor subunit alpha
TAC antigen
IL-2R subunit alpha
IL-2 receptor subunit alpha

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_000408.1

    Status: REVIEWED

    Source sequence(s)
    AL137186, AL157395, X01057
    Consensus CDS
    CCDS7076.1
    UniProtKB/Swiss-Prot
    P01589
    Related
    ENSP00000369293, OTTHUMP00000019030, ENST00000379959, OTTHUMT00000046627
    Conserved Domains (2) 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
    pfam00084
    Location:2678
    Sushi; Sushi domain (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    6010694..6062370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252446.1XP_005252503.1  

    See proteins identical to XP_005252503.1

    UniProtKB/TrEMBL
    Q5W005
    Conserved Domains (1) summary
    pfam00084
    Location:2678
    Sushi; Sushi domain (SCR repeat)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    5979490..6030662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    6052649..6103793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)