IL2RA Gene (Protein Coding)

Interleukin 2 Receptor Subunit Alpha

GC10M006010
GIFtS:
52
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 dete... See more...

Aliases for IL2RA Gene

Aliases for IL2RA Gene

  • Interleukin 2 Receptor Subunit Alpha 2 3 5
  • Interleukin-2 Receptor Subunit Alpha 3 4
  • 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
  • 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 Allograft rejection and RET signaling. Gene Ontology (GO) annotations related to this gene include drug binding and interleukin-2 binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for IL2RA Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL2RA Gene

Genomics for IL2RA Gene

GeneHancer (GH) Regulatory Elements for IL2RA Gene

Promoters and enhancers for IL2RA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J006061 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 750.6 +0.3 252 1.4 MLLT1 EED RUNX3 IKZF1 JUNB IL2RA piR-55650-032
GH10J006062 Enhancer 0.6 FANTOM5 dbSUPER 759.2 +1.5 1537 0.2 NFE2 JUNB BATF IL2RA PFKFB3 IL15RA RBM17 GDI2 piR-55650-032
GH10J006063 Enhancer 0.5 ENCODE dbSUPER 750.6 +1.3 1297 0.2 MLLT1 NFE2 IL2RA piR-55650-032
GH10J006064 Promoter 0.3 Ensembl 750.6 -1.5 -1530 0.2 IL2RA lnc-IL2RA-4
GH10J006086 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 31.6 -24.3 -24250 1.2 ZNF24 CTCF SMARCE1 L3MBTL2 MAX RAD21 DACH1 MNT GTF2F1 SMARCA4 piR-33614-024 IL2RA ANKRD16 ENSG00000232807 FBH1 CALML3-AS1 RBM17 PFKFB3 IL15RA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL2RA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL2RA gene promoter:
  • IRF-7A
  • NF-kappaB
  • NF-kappaB1
  • p53
  • STAT1
  • STAT1alpha
  • STAT3
  • STAT5A
  • STAT6

Genomic Locations for IL2RA Gene

Genomic Locations for IL2RA Gene
chr10:6,010,689-6,062,370
(GRCh38/hg38)
Size:
51,682 bases
Orientation:
Minus strand
chr10:6,052,652-6,104,333
(GRCh37/hg19)
Size:
51,682 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for IL2RA Gene

Proteins for IL2RA Gene

Products:

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

    Protein Symbol:
    P01589-IL2RA_HUMAN
    Recommended name:
    Interleukin-2 receptor subunit alpha
    Protein Accession:
    P01589
    Secondary Accessions:
    • Q5W007

    Protein attributes for IL2RA Gene

    Size:
    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

Protein Expression for IL2RA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IL2RA Gene

  • Glycosylation at Asn70, Asn89, Thr218, Thr224, Thr229, and Thr237
  • Modification sites at PhosphoSitePlus

Other Protein References for IL2RA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for IL2RA Gene

Domains & Families for IL2RA Gene

Gene Families for IL2RA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IL2RA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IL2RA Gene

GenScript: Design optimal peptide antigens:
  • IL2R protein (A2N4P8_HUMAN)
  • p55 (IL2RA_HUMAN)
  • Interleukin-2 receptor (O15163_HUMAN)
genes like me logo Genes that share domains with IL2RA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IL2RA Gene

Function for IL2RA Gene

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  1. Animal Model
  2. CRISPR
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  5. Clone
  6. Cell Line

Molecular function for IL2RA Gene

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.
GENATLAS Biochemistry:
interleukin 2,low affinity receptor,alpha chain 45kDa,expressed in T cell,B lymphoblast lines,peripheral blood monocyte

Phenotypes From GWAS Catalog for IL2RA Gene

Gene Ontology (GO) - Molecular Function for IL2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004911 contributes_to interleukin-2 receptor activity IMP,IEA 2467293
GO:0005515 protein binding IPI 16477002
GO:0019976 interleukin-2 binding IEA,IBA 21873635
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:
  • Il2ra Il2ra<tm1b(EUCOMM)Wtsi>
  • Il2ra Il2ra<tm1Dw>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for IL2RA

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

COMPARTMENTS
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 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for IL2RA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005893 interleukin-2 receptor complex TAS 2467293
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL2RA Gene

Pathways & Interactions for IL2RA Gene

PathCards logo

SuperPathways for IL2RA Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
3 PEDF Induced Signaling
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Glucocorticoid Receptor Signaling
.43
Cytokine-cytokine receptor interaction
.43
4 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
5 Th17 cell differentiation
Th1 and Th2 cell differentiation
.55
Th17 cell differentiation
.55
Immune response IL-22 signaling pathway
.36
genes like me logo Genes that share pathways with IL2RA: view

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Denileukin diftitox Approved, Investigational Pharma Target, binder 46
Basiliximab Approved, Investigational Pharma Target, antibody 145
Aldesleukin Approved Pharma Target, agonist, modulator, inhibitor 446
Pirfenidone Approved, Investigational Pharma TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo 78
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 631

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AS 101
106566-58-9
GIT 27
6501-72-0

(4) Tocris Compounds for IL2RA Gene

Compound Action Cas Number
AS 101 Immunomodulator; inhibits IL-10 synthesis and potentiates IL-1alpha, IL-2 and TNF-alpha release 106566-58-9
GIT 27 Immunomodulator; reduces production of pro-inflammatory cytokines 6501-72-0
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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IL2RA Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(42) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for IL2RA

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: - -
SP5:

Relevant External Links for IL2RA Gene

GeneLoc Exon Structure for
IL2RA
ECgene alternative splicing isoforms for
IL2RA

Expression for IL2RA Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for IL2RA Gene
mRNA expression by GTEx for IL2RA GenemRNA expression by BioGPS 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 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:

IL2RA

SOURCE GeneReport for Unigene cluster for IL2RA Gene:

Hs.231367

Evidence on tissue expression from TISSUES for IL2RA Gene

  • Blood(3.1)
  • Spleen(3.1)
  • Lymph node(2.8)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • rectum
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • 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

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
chimpanzee
(Pan troglodytes)
 Mammalia IL2RA 33 32
  • 98.49 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia IL2RA 33 32
  • 74.4 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Il2ra 17 33 32
  • 72.16 (n)
rat
(Rattus norvegicus)
 Mammalia Il2ra 32
  • 71.54 (n)
cow
(Bos Taurus)
 Mammalia IL2RA 33 32
  • 70.26 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IL2RA 33
  • 30 (a)
 OneToOne
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

ENSEMBL:
Gene Tree for IL2RA (if available)
TreeFam:
Gene Tree for IL2RA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL2RA: view image

Paralogs for IL2RA Gene

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

  • IL2RA_HUMAN
  • H0Y5Z0_HUMAN
  • Q5W005_HUMAN
  • Q5W006_HUMAN
genes like me logo Genes that share paralogs with IL2RA: view

No data available for Paralogs for IL2RA Gene

Variants for IL2RA Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for IL2RA Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs11256354 benign, conflicting-interpretations-of-pathogenicity, not specified, Interleukin 2 receptor, alpha, deficiency of 6,019,444(-) T/C/G coding_sequence_variant, synonymous_variant
rs11256369 benign, Interleukin 2 receptor, alpha, deficiency of, not specified 6,024,237(-) C/G/T intron_variant
rs12244380 benign, Interleukin 2 receptor, alpha, deficiency of 6,011,411(-) A/G 3_prime_UTR_variant
rs12358961 benign, Interleukin 2 receptor, alpha, deficiency of 6,024,232(-) T/A intron_variant
rs12719919 likely-benign, Interleukin 2 receptor, alpha, deficiency of 6,012,195(-) C/T 3_prime_UTR_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)

Additional Variant Information for IL2RA Gene

Human Gene Mutation Database (HGMD)
IL2RA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL2RA

SNP Genotyping and Copy Number Assay Products

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

Disorders for IL2RA Gene

MalaCards: The human disease database

(82) MalaCards diseases for IL2RA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

IL2RA_HUMAN
  • 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. {