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FLASH GENE
Symbol IL2RA contributors: mct - updated : 07-09-2017
HGNC name interleukin 2 receptor, alpha
HGNC id 6008
Corresponding disease
IMD41 Immunodeficiency 41
Location 10p15.1      Physical location : 6.052.656 - 6.104.333
Synonym name
  • antigen CD25
  • 55kDa, Tac-antigen, identified by monoclonal antibodies TAC, 7G7/B6, 2A3
  • interleukin-2 receptor subunit alpha
  • Synonym symbol(s) CD25, IL2R, TCGFR, p55, IL-2-RA, IDDM10, IMD41
    DNA
    TYPE like-sequence
    STRUCTURE 51.68 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • differential methylation of the IL2RA promoter in T cells could be an important pathogenic mechanism in multiple sclerosis (MS)
  • five enhancers containing the selected SNPs that stimulated activity of the IL2RA promoter in a cell-type specific manner, and tested the effect of specific SNP alleles on activity of the respective enhancers (E1 to E5, labeled according to the distance to the promoter)
  • structural properties of the IL2RA promoter are encoded in the DNA sequence and second, that during the initiation process DNA conformation is dynamic and not static
  • MAPPING cloned Y linked N status provisional
    Physical map
    AKR1CL2 10p15.2 aldo-keto reductase family 1, member C-like 2 LOC389932 10 similar to 3-hydroxyhexobarbital dehydrogenase 1/3-alpha, 17-beta-hydroxysteroid dehydrogenase AKR1C1 10p15-p14 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) AKR1C2 10p15-p14 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) AKR1C3 10p15-p14 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) LOC389933 10 similar to 3(20)alpha-hydroxysteroid/dihydrodiol dehydrogenase LOC340811 10p15.2 protein RAKc AKR1C4 10p15-p14 aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) LOC389934 10 similar to protein RAKc UCN3 10p15.1 urocortin 3 (stresscopin) FLJ21665 10p15.1 hypothetical protein FLJ21665 NET1 10p15 neuroepithelial cell transforming gene 1 CALML5 10p15.1 calmodulin-like 5 CALML3 10pter-p13 calmodulin-like 3 ASB13 10p15.1 ankyrin repeat and SOCS box-containing 13 FLJ20360 10p15.1 hypothetical protein FLJ20360 GDI2 10p15 GDP dissociation inhibitor 2 ANKRD16 10p15.1 ankyrin repeat domain 16 FBXO18 10p15.1 F-box only protein, helicase, 18 IL15RA 10p15-p14 interleukin 15 receptor, alpha IL2RA 10p15-p14 interleukin 2 receptor, alpha SPF45 LOC387633 10 LOC387633 LOC142937 10p15.1 hypothetical protein BC008131 PFKFB3 10p15-p14 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 PRKCQ 10p15 protein kinase C, theta SFMBT2 10p15.1 Scm-related gene containing four mbt domains 2 FLJ14641 10p15.1 hypothetical protein FLJ14641 ITIH5 10p15.1 inter-alpha (globulin) inhibitor H5 ITIH2 10p15 inter-alpha (globulin) inhibitor, H2 polypeptide KIN 10p15-p14 KIN, antigenic determinant of recA protein homolog (mouse) ATP5C1 10q22-q23 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 TAF3 10p15.1 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa
    regionally located tightly linked to IL15RA
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 3216 30 272 - 1985 3925551
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Endocrineadrenal gland    
    Lymphoid/Immunelymph node    
     thymus   predominantly
    Reproductivefemale systemuterus   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    cell lineage B lymphoblast lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two short consensus repeats
  • two sushi (CCP/SCR) structure (see F13B, SRCP1)
  • conjugated GlycoP
    mono polymer homomer , heteromer , monomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Il2ra
    ortholog to murine Il2ra
    Homologene
    FAMILY
    CATEGORY antigen , signaling cytokine , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • is expressed in activated T cells and has a significant role in autoimmune disease and tumorigenesis
  • IL2RA likely plays a significant role in autoimmune phenomena seen in patients with myelofibrosis
  • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • regulation of cell cycle
  • PATHWAY
    metabolism
    signaling signal transduction
    a component
  • noncovalent dimer of an alpha and a beta chains
  • associated with a gamma chain
  • homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FOXP3 function as a positive activator of IL2RA
  • key role of class I PIK3CA in IL2RA endocytosis that creates a link with IL2 signalling
  • KHDRBS1 has an essential role in the induction and maintenance of IL2RA in T cells
  • dynamin acts as a transition controller for the recruitment of Arp2/3 activators required for IL2RA endocytosis
  • IL2RA and TAGAP are novel vitamin D target genes, and are regulated by vitamin D in CD4+ T cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD41
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in leukemia stem cells and correlated with adverse outcomes in young patients with acute myeloid leukemia (AML)
    Susceptibility
  • to IDDM (type 1 diabetes)
  • to rheumatoid arthritis (RA)
  • to multiple sclerosis (MS)
  • to primary sclerosing cholangitis (PSC)
  • Variant & Polymorphism SNP , other
  • snp increasing the risk of IDDM (type 1 diabetes)
  • role of the IL2RA gene on MS susceptibility
  • IL2RA-rs2104286 is the only known genetic variant associated with both joint destruction and RA-persistence
  • Treg impairment may play a role in the immune dysregulation observed in PSC, and reduced Treg numbers in patients with PSC are associated with polymorphisms in the IL2RA gene
  • CpG methylation changes within the IL2RA promoter in type 1 diabetes of childhood onset
  • Candidate gene
    Marker
  • is an independent prognostic factor in elderly AML patients
  • can be a potent marker of disease activity and therapeutic effects in patients with Kawasaki disease
  • IL2RA expression is a specific and relatively sensitive marker for the identification of Ph+ B acute lymphoblastic leukemia (B-ALL) in the pediatric population
  • Therapy target
    ANIMAL & CELL MODELS
  • murine podocytes express the Il2ra, and activation through the Il2ra results in podocyte injury