Human Gene IL2RA (uc001iiz.2) Description and Page Index
  Description: Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.
RefSeq Summary (NM_000417): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:6,052,657-6,104,333 Size: 51,677 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr10:6,054,835-6,104,114 Size: 49,280 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:6,052,657-6,104,333)mRNA (may differ from genome)Protein (272 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: IL2RA_HUMAN
DESCRIPTION: RecName: Full=Interleukin-2 receptor subunit alpha; Short=IL-2 receptor subunit alpha; Short=IL-2-RA; Short=IL-2R subunit alpha; Short=IL2-RA; AltName: Full=TAC antigen; AltName: Full=p55; AltName: CD_antigen=CD25; Flags: Precursor;
FUNCTION: Receptor for interleukin-2.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DISEASE: Genetic variations in IL2RA are associated with susceptibility to diabetes mellitus insulin-dependent type 10 (IDDM10) [MIM:601942]. A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures 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.
SIMILARITY: Contains 2 Sushi (CCP/SCR) domains.
WEB RESOURCE: Name=IL2RAbase; Note=IL2RA mutation db; URL="http://bioinf.uta.fi/IL2RAbase/";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2ra/";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL2RA
CDC HuGE Published Literature: IL2RA
Positive Disease Associations: Alopecia Areata , Arthritis, Rheumatoid , Crohn Disease , Diabetes Mellitus, Type 1 , diabetes, type 1 , Graves' disease , HIV , Inflammation , multiple sclerosis , type 1 diabetes , Vitiligo
Related Studies:
  1. Alopecia Areata
    Lynn Petukhova et al. Nature 2010, Genome-wide association study in alopecia areata implicates both innate and adaptive immunity., Nature. [PubMed 20596022]
  2. Arthritis, Rheumatoid
    Eli A Stahl et al. Nature genetics 2010, Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci., Nature genetics. [PubMed 20453842]
  3. Crohn Disease
    Andre Franke et al. Nature genetics 2010, Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci., Nature genetics. [PubMed 21102463]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL2RA
Diseases sorted by gene-association score: immunodeficiency 41 with lymphoproliferation and autoimmunity* (1580), diabetes, mellitus, insulin-dependent 10* (569), interleukin 2 receptor alpha chain deficiency* (100), autoimmune enteropathy (28), intermediate uveitis (27), oligoarticular juvenile idiopathic arthritis* (25), adult t-cell leukemia (19), diphtheria (17), acute graft versus host disease (15), hyperlucent lung (15), cutaneous t cell lymphoma (13), large granular lymphocyte leukemia (13), pulmonary sarcoidosis (12), ileocolitis (12), cutaneous candidiasis (12), hairy cell leukemia (12), tropical spastic paraparesis (11), lymphopenia (11), bell's palsy (11), vogt-koyanagi-harada disease (11), hemophagocytic lymphohistiocytosis (10), hypereosinophilic syndrome (10), rheumatoid factor-negative juvenile idiopathic arthritis* (10), posterior uveitis (10), cervicitis (10), rheumatic disease (10), mycosis fungoides (9), vernal conjunctivitis (9), toxic oil syndrome (9), interleukin-7 receptor alpha deficiency (8), b cell prolymphocytic leukemia (8), cluster headache (8), lymphoproliferative syndrome (8), idiopathic neutropenia (8), adenohypophysitis (8), primary immunodeficiency disease (8), wells syndrome (8), b-cell expansion with nfkb and t-cell anergy (8), chronic graft versus host disease (8), uveitis (7), graves' disease (7), sezary's disease (7), alopecia universalis (7), urticaria pigmentosa (7), sarcoidosis 1 (7), fuchs' heterochromic uveitis (7), balo concentric sclerosis (7), graft-versus-host disease, protection against (6), alopecia areata (6), tetanus (6), stromal keratitis (6), chronic mucocutaneous candidiasis (6), autoimmune pancreatitis (6), pure red-cell aplasia (6), limited scleroderma (6), mumps (6), t-cell large granular lymphocyte leukemia (6), autoimmune lymphoproliferative syndrome (6), somatoform disorder (6), folliculitis (6), clear cell acanthoma (6), brucellosis (6), common variable immunodeficiency (5), lymphoproliferative syndrome 2 (5), extrinsic allergic alveolitis (5), t-cell leukemia (5), cytomegalovirus infection (5), rheumatoid arthritis, systemic juvenile (5), chronic lymphocytic leukemia (4), hashimoto thyroiditis (4), asthma (3), acquired immunodeficiency syndrome (3), diabetes mellitus, insulin-dependent (3), systemic lupus erythematosus (3), lymphoma, non-hodgkin (2), multiple sclerosis, disease progression, modifier of (2), hematologic cancer (2), behcet syndrome (1), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.84 RPKM in Spleen
Total median expression: 25.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.20219-0.321 Picture PostScript Text
3' UTR -652.002178-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR015486 - IL-2_recpt_a
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)

SCOP Domains:
57535 - Complement control module/SCR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1ILM
- Model

1ILN
- Model

1Z92
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2B5I - X-ray MuPIT 2ERJ - X-ray MuPIT 3IU3 - X-ray MuPIT
3NFP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01589
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004911 interleukin-2 receptor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0008144 drug binding
GO:0019976 interleukin-2 binding

Biological Process:
GO:0000165 MAPK cascade
GO:0002376 immune system process
GO:0002437 inflammatory response to antigenic stimulus
GO:0002664 regulation of T cell tolerance induction
GO:0006915 apoptotic process
GO:0006924 activation-induced cell death of T cells
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007166 cell surface receptor signaling pathway
GO:0007219 Notch signaling pathway
GO:0008283 cell proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0038110 interleukin-2-mediated signaling pathway
GO:0042102 positive regulation of T cell proliferation
GO:0042104 positive regulation of activated T cell proliferation
GO:0042130 negative regulation of T cell proliferation
GO:0043029 T cell homeostasis
GO:0045582 positive regulation of T cell differentiation
GO:0045589 regulation of regulatory T cell differentiation
GO:0046013 regulation of T cell homeostatic proliferation
GO:0050672 negative regulation of lymphocyte proliferation
GO:0050687 negative regulation of defense response to virus
GO:0050728 negative regulation of inflammatory response
GO:0050777 negative regulation of immune response

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  X01057 - Human mRNA for interleukin-2 receptor.
JD517499 - Sequence 498523 from Patent EP1572962.
JD500561 - Sequence 481585 from Patent EP1572962.
JD388475 - Sequence 369499 from Patent EP1572962.
JD558819 - Sequence 539843 from Patent EP1572962.
JD431011 - Sequence 412035 from Patent EP1572962.
JD243342 - Sequence 224366 from Patent EP1572962.
JD225785 - Sequence 206809 from Patent EP1572962.
JD136287 - Sequence 117311 from Patent EP1572962.
JD222746 - Sequence 203770 from Patent EP1572962.
JD274263 - Sequence 255287 from Patent EP1572962.
JD402025 - Sequence 383049 from Patent EP1572962.
JD205602 - Sequence 186626 from Patent EP1572962.
JD130960 - Sequence 111984 from Patent EP1572962.
JD515154 - Sequence 496178 from Patent EP1572962.
JD543046 - Sequence 524070 from Patent EP1572962.
JD142558 - Sequence 123582 from Patent EP1572962.
JD495011 - Sequence 476035 from Patent EP1572962.
JD468947 - Sequence 449971 from Patent EP1572962.
JD541591 - Sequence 522615 from Patent EP1572962.
K03122 - Human interleukin-2 receptor mRNA (short form), complete cds.
JD036864 - Sequence 17888 from Patent EP1572962.
JD122695 - Sequence 103719 from Patent EP1572962.
JD040458 - Sequence 21482 from Patent EP1572962.
AK223313 - Homo sapiens mRNA for interleukin 2 receptor, alpha chain precursor variant, clone: TMS04728.
JD458806 - Sequence 439830 from Patent EP1572962.
JD232036 - Sequence 213060 from Patent EP1572962.
JD038506 - Sequence 19530 from Patent EP1572962.
E00723 - cDNA encoding human interleukin-2 receptor.
E02541 - cDNA encoding human Interleukin-2 receptor L chain.
E09577 - cDNA encoding human interleukin-2 receptor.
JD304543 - Sequence 285567 from Patent EP1572962.
JD403525 - Sequence 384549 from Patent EP1572962.
JD052392 - Sequence 33416 from Patent EP1572962.
M14098 - Human T-cell interleukin-2 receptor mRNA, mature peptide region.
AK313847 - Homo sapiens cDNA, FLJ94475, highly similar to Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.
BC156627 - Synthetic construct Homo sapiens clone IMAGE:100062063, MGC:190156 interleukin 2 receptor, alpha (IL2RA) mRNA, encodes complete protein.
BC152889 - Synthetic construct Homo sapiens clone IMAGE:100016079, MGC:184222 interleukin 2 receptor, alpha (IL2RA) mRNA, encodes complete protein.
AB528862 - Synthetic construct DNA, clone: pF1KE0583, Homo sapiens IL2RA gene for interleukin 2 receptor, alpha, without stop codon, in Flexi system.
E00727 - cDNA encoding human IL-2 receptor.
AF008556 - Homo sapiens interleukin-2 receptor mRNA, alternatively spliced, partial cds.
JD407890 - Sequence 388914 from Patent EP1572962.
JD395249 - Sequence 376273 from Patent EP1572962.
JD043236 - Sequence 24260 from Patent EP1572962.
JD173550 - Sequence 154574 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04144 - Endocytosis
hsa04630 - Jak-STAT signaling pathway
hsa04640 - Hematopoietic cell lineage

BioCarta from NCI Cancer Genome Anatomy Project
h_tob1Pathway - Role of Tob in T-cell activation
h_il2Pathway - IL 2 signaling pathway
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_th1th2Pathway - Th1/Th2 Differentiation

Reactome (by CSHL, EBI, and GO)

Protein P01589 (Reactome details) participates in the following event(s):

R-HSA-450054 Interleukin-2 receptor alpha binds interleukin-2
R-HSA-452091 Phosphorylation of IL2RB Y338 enables SHC recruitment
R-HSA-452108 Phosphorylation of IL2RB Y338, Y392 or Y510 enables STAT recruitment
R-HSA-452122 JAK1 phosphorylates Y338, Y392 and Y510 of IL2RB
R-HSA-919404 Phosphorylated STAT5 is released
R-HSA-450027 Interleukin-2 receptor alpha:IL2 binds Interleukin-2 receptor beta
R-HSA-452100 SHC1 bound to IL2 receptor is phosphorylated
R-HSA-452097 Recruited STAT5 is phosphorylated
R-HSA-450063 Interleukin-2: IL2 receptor alpha:beta binds IL2 receptor gamma subunit
R-HSA-508292 SYK binds IL2RB
R-HSA-451942 Within the IL-2R complex JAK3 phosphorylates JAK1
R-HSA-453111 Phosphorylated SHC recruits GRB2:SOS1
R-HSA-913374 Phosphorylated SHC1 recruits SHIP
R-HSA-508282 SYK is a substrate for JAK1
R-HSA-508247 Gab2 binds the p85 subunit of Class 1A PI3 kinases
R-HSA-913424 The SHC1:SHIP1 complex is stabilized by GRB2
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-9020558 Interleukin-2 signaling
R-HSA-8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
R-HSA-451927 Interleukin-2 family signaling
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-449147 Signaling by Interleukins
R-HSA-212436 Generic Transcription Pathway
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-168256 Immune System
R-HSA-74160 Gene expression (Transcription)
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: IL2RA_HUMAN, NM_000417, NP_000408, P01589, Q5W007
UCSC ID: uc001iiz.2
RefSeq Accession: NM_000417
Protein: P01589 (aka IL2RA_HUMAN or IL2A_HUMAN)
CCDS: CCDS7076.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000417.2
exon count: 8CDS single in 3' UTR: no RNA size: 3216
ORF size: 819CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1777.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.