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Aliases for IL2RA Gene

Aliases for IL2RA Gene

  • Interleukin 2 Receptor Subunit Alpha 2 3 5
  • Interleukin 2 Receptor, Alpha 2 3
  • IL-2 Receptor Subunit Alpha 3 4
  • IL-2R Subunit Alpha 3 4
  • TAC Antigen 3 4
  • P55 3 4
  • Insulin-Dependent Diabetes Mellitus 10 2
  • Interleukin-2 Receptor Subunit Alpha 3
  • CD25 Antigen 4
  • IL-2-RA 4
  • IDDM10 3
  • IL2-RA 4
  • IMD41 3
  • TCGFR 3
  • CD25 3
  • IL2R 3

External Ids for IL2RA Gene

Previous HGNC Symbols for IL2RA Gene

  • IL2R
  • IDDM10

Previous GeneCards Identifiers for IL2RA Gene

  • GC10M005997
  • GC10M006203
  • GC10M006058
  • GC10M006059
  • GC10M006093
  • GC10M006041

Summaries for IL2RA Gene

Entrez Gene Summary for IL2RA Gene

  • 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]

GeneCards Summary for IL2RA Gene

IL2RA (Interleukin 2 Receptor Subunit Alpha) is a Protein Coding gene. Diseases associated with IL2RA include Immunodeficiency 41 With Lymphoproliferation And Autoimmunity and Diabetes, Mellitus, Insulin-Dependent 10. Among its related pathways are RET signaling and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. GO annotations related to this gene include drug binding and interleukin-2 binding.

UniProtKB/Swiss-Prot for IL2RA Gene

  • Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells.

Tocris Summary for IL2RA Gene

  • Cytokines are proteinaceous signaling compounds that are major mediators of the immune response. They control many different cellular functions including proliferation, differentiation and cell survival/apoptosis but are also involved in several pathophysiological processes.

Gene Wiki entry for IL2RA Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL2RA Gene

Genomics for IL2RA Gene

Regulatory Elements for IL2RA Gene

Enhancers for IL2RA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G006086 1.8 FANTOM5 Ensembl ENCODE dbSUPER 31.7 -24.3 -24250 1.2 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF416 ZNF143 IL2RA LOC105376384 FBXO18 CALML3-AS1 RBM17 PFKFB3 IL15RA RPL32P23
GH10G006083 1.1 FANTOM5 ENCODE dbSUPER 29.5 -21.6 -21579 0.3 GATA2 MLLT1 ZBTB33 IL2RA PFKFB3 IL15RA LOC105376384 FBXO18 RBM17 RPL32P23
GH10G005941 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +118.0 118046 6.3 HDGF PKNOX1 ATF1 CREB3L1 ARNT YY1 TCF12 ZNF121 ZNF766 GATA2 IL15RA LOC105376384 IL2RA GDI2 PFKFB3 ANKRD16 CALML3-AS1 PIR38458
GH10G006074 0.8 FANTOM5 20.9 -12.6 -12618 0.3 HDAC1 PKNOX1 BHLHE40 FOSL1 POLR2H GATA3 EGR1 PBX2 TARDBP HMBOX1 IL2RA RBM17 RPL32P23
GH10G006049 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +10.3 10309 5.6 HDGF PKNOX1 ATF1 MLX WRNIP1 SIN3A ZNF48 YY1 TCF12 GATA2 PFKFB3 IL2RA IL15RA RBM17 GC10M006043 GC10M006044
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL2RA on UCSC Golden Path with GeneCards custom track

Genomic Location for IL2RA Gene

6,010,689 bp from pter
6,062,370 bp from pter
51,682 bases
Minus strand

Genomic View for IL2RA Gene

Genes around IL2RA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL2RA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL2RA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL2RA Gene

Proteins for IL2RA Gene

  • Protein details for IL2RA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Interleukin-2 receptor subunit alpha
    Protein Accession:
    Secondary Accessions:
    • Q5W007

    Protein attributes for IL2RA Gene

    272 amino acids
    Molecular mass:
    30819 Da
    Quaternary structure:
    • Non-covalent dimer of an alpha and a beta subunit. IL2R exists in 3 different forms: a high affinity dimer, an intermediate affinity monomer (beta subunit), and a low affinity monomer (alpha subunit). The high and intermediate affinity forms also associate with a gamma subunit.

    Three dimensional structures from OCA and Proteopedia for IL2RA Gene

neXtProt entry for IL2RA Gene

Post-translational modifications for IL2RA Gene

  • Glycosylation at isoforms=70, posLast=8989, isoforms=218, posLast=224224, posLast=229229, and posLast=237237
  • Modification sites at PhosphoSitePlus

Other Protein References for IL2RA Gene

No data available for DME Specific Peptides for IL2RA Gene

Domains & Families for IL2RA Gene

Protein Domains for IL2RA Gene

Suggested Antigen Peptide Sequences for IL2RA Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IL2RA: view

No data available for UniProtKB/Swiss-Prot for IL2RA Gene

Function for IL2RA Gene

Molecular function for IL2RA Gene

GENATLAS Biochemistry:
interleukin 2,low affinity receptor,alpha chain 45kDa,expressed in T cell,B lymphoblast lines,peripheral blood monocyte
UniProtKB/Swiss-Prot Function:
Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells.

Gene Ontology (GO) - Molecular Function for IL2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004911 interleukin-2 receptor activity TAS,IBA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0008144 drug binding IEA --
GO:0019976 interleukin-2 binding IBA --
genes like me logo Genes that share ontologies with IL2RA: view
genes like me logo Genes that share phenotypes with IL2RA: view

Human Phenotype Ontology for IL2RA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL2RA Gene

MGI Knock Outs for IL2RA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL2RA Gene

Localization for IL2RA Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL2RA Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL2RA gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IL2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IL2RA: view

Pathways & Interactions for IL2RA Gene

SuperPathways for IL2RA Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PEDF Induced Signaling
4 TGF-Beta Pathway
5 Th17 cell differentiation
genes like me logo Genes that share pathways with IL2RA: view

Pathways by source for IL2RA Gene

SIGNOR curated interactions for IL2RA Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for IL2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0002376 immune system process IEA --
GO:0002437 inflammatory response to antigenic stimulus IEA --
GO:0002664 regulation of T cell tolerance induction IMP 23416241
GO:0006915 apoptotic process TAS 9096364
genes like me logo Genes that share ontologies with IL2RA: view

Drugs & Compounds for IL2RA Gene

(92) Drugs for IL2RA Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Denileukin diftitox Approved, Investigational Pharma binder, Target 47
Basiliximab Approved, Investigational Pharma antibody, Target 138
Daclizumab Approved, Investigational Pharma antibody, Target 98
Aldesleukin Approved Pharma inhibitor, modulator, Target, agonist 405
Proleukin Approved January 1998 Pharma 0

(62) Additional Compounds for IL2RA Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AS 2444697

(5) Tocris Compounds for IL2RA Gene

Compound Action Cas Number
4-IPP Inhibitor of macrophage migration inhibitory factor (MIF); suicide substrate 41270-96-6
AS 2444697 Potent and selective IRAK4 inhibitor 1287665-60-4
ISO 1 Macrophage migration inhibitory factor (MIF) inhibitor 478336-92-4
Pirfenidone Antifibrotic agent; regulates cytokine levels in vivo 53179-13-8
Thalidomide TNF-alpha synthesis inhibitor 50-35-1

(1) ApexBio Compounds for IL2RA Gene

Compound Action Cas Number
Dexamethasone Sodium Phosphate 55203-24-2
genes like me logo Genes that share compounds with IL2RA: view

Transcripts for IL2RA Gene

Unigene Clusters for IL2RA Gene

Interleukin 2 receptor, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IL2RA Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: -
SP2: - - -
SP3: - - - -
SP4: - -

Relevant External Links for IL2RA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IL2RA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL2RA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL2RA Gene

This gene is overexpressed in Spleen (x9.3), Small Intestine - Terminal Ileum (x6.2), and Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for IL2RA Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL2RA Gene

Protein tissue co-expression partners for IL2RA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL2RA Gene:


SOURCE GeneReport for Unigene cluster for IL2RA Gene:


Evidence on tissue expression from TISSUES for IL2RA Gene

  • Blood(3.1)
  • Spleen(3.1)
  • Lymph node(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL2RA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • anus
  • rectum
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • bone marrow
  • hair
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL2RA: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for IL2RA Gene

Orthologs for IL2RA Gene

This gene was present in the common ancestor of mammals.

Orthologs for IL2RA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IL2RA 34 35
  • 98.49 (n)
(Canis familiaris)
Mammalia IL2RA 34 35
  • 74.4 (n)
(Mus musculus)
Mammalia Il2ra 34 16 35
  • 72.16 (n)
(Rattus norvegicus)
Mammalia Il2ra 34
  • 71.54 (n)
(Bos Taurus)
Mammalia IL2RA 34 35
  • 70.26 (n)
(Ornithorhynchus anatinus)
Mammalia IL2RA 35
  • 30 (a)
Species where no ortholog for IL2RA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IL2RA Gene

Gene Tree for IL2RA (if available)
Gene Tree for IL2RA (if available)

Paralogs for IL2RA Gene

(1) SIMAP similar genes for IL2RA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with IL2RA: view

No data available for Paralogs for IL2RA Gene

Variants for IL2RA Gene

Sequence variations from dbSNP and Humsavar for IL2RA Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs796051887 Pathogenic, Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367] 6,021,564(-) TGAGA(A/G)CGTCT intron-variant, reference, missense
rs796051888 Pathogenic, Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367] 6,025,968(-) GGCCT(A/C)CAAGG reference, missense
rs886041032 Pathogenic 6,062,088(-) GCCAG(-/GCAG)GTAAG reference, frameshift-variant
rs886041037 Pathogenic 6,024,310(-) AAGAA(C/T)AGAAA reference, stop-gained
rs886041038 Pathogenic 6,019,462(-) ATGGA(-/A)GACGT reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for IL2RA Gene

Variant ID Type Subtype PubMed ID
dgv1e49 CNV loss 18971310
dgv352n106 CNV deletion 24896259
esv1000739 CNV deletion 20482838
esv1011098 CNV deletion 20482838
esv1592945 CNV deletion 17803354
esv2014648 CNV deletion 18987734
esv2516054 CNV deletion 19546169
esv2731873 CNV deletion 23290073
esv2731884 CNV deletion 23290073
esv2731895 CNV deletion 23290073
esv3132533 CNV deletion 24192839
esv3264829 CNV deletion 24192839
esv3349435 CNV duplication 20981092
esv3545834 CNV deletion 23714750
esv3545835 CNV deletion 23714750
esv4965 CNV loss 18987735
esv5272 CNV loss 18987735
esv9342 CNV loss 19470904
nsv1068274 CNV deletion 25765185
nsv1073083 CNV deletion 25765185
nsv1148973 CNV deletion 26484159
nsv525927 CNV loss 19592680
nsv956342 CNV deletion 24416366
nsv958561 CNV deletion 24416366

Variation tolerance for IL2RA Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL2RA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL2RA Gene

Disorders for IL2RA Gene

MalaCards: The human disease database

(85) MalaCards diseases for IL2RA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IL2RA in MalaCards View complete list of genes associated with diseases


  • Diabetes mellitus, insulin-dependent, 10 (IDDM10) [MIM:601942]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:17676041}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) [MIM:606367]: A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. {ECO:0000269 PubMed:23416241, ECO:0000269 PubMed:24116927}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for IL2RA Gene

immunodeficiency,severe combined with absence of CD1 and of IL2RA expression on cortical thymocyte

Relevant External Links for IL2RA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IL2RA: view

Publications for IL2RA Gene

  1. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. (PMID: 17676041) Lowe C.E. … Todd J.A. (Nat. Genet. 2007) 2 3 4 46 64
  2. Genetic association between the interleukin-2 receptor-alpha gene and mode of onset of type 1 diabetes in the Japanese population. (PMID: 19106270) Kawasaki E. … Eguchi K. (J. Clin. Endocrinol. Metab. 2009) 3 22 46 64
  3. Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. (PMID: 23416241) Goudy K. … Bacchetta R. (Clin. Immunol. 2013) 3 4 64
  4. 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. (PMID: 22293688) Huang J. … Li Y. (Eur. J. Hum. Genet. 2012) 3 46 64
  5. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PMID: 22228203) Aslibekyan S. … Arnett D.K. (Pharmacogenet. Genomics 2012) 3 46 64

Products for IL2RA Gene

Sources for IL2RA Gene

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