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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. The level of IL2/IL2R in plasma has been found to be elevated in some patients with severe COVID-19, but decreased in critical patients. [provided by RefSeq, Jun 2020]
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 Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include drug binding and interleukin-2 binding.
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.
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 | 1.4 | EPDnew Ensembl ENCODE dbSUPER | 600.7 | +0.3 | 252 | 1.4 | EED RUNX3 POLR2A IKZF1 JUNB TBP SPI1 MLLT1 | IL2RA piR-55650-032 IL15RA | |
GH10J006062 | Enhancer | 0.7 | FANTOM5 dbSUPER | 609.2 | +1.5 | 1537 | 0.2 | NFE2 JUNB BATF SPI1 | IL2RA PFKFB3 IL15RA RBM17 GDI2 piR-55650-032 | |
GH10J006063 | Enhancer | 0.5 | ENCODE dbSUPER | 600.7 | +1.3 | 1297 | 0.2 | NFE2 MLLT1 | IL2RA piR-55650-032 IL15RA | |
GH10J006064 | Promoter | 0.3 | Ensembl | 600.7 | -1.5 | -1530 | 0.2 | IL2RA lnc-IL2RA-4 RBM17 | ||
GH10J006086 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 31.7 | -24.3 | -24250 | 1.2 | GATAD2A CTCF PRDM10 IKZF1 FOXA1 MTA2 ZNF143 ZIC2 PKNOX1 REST | piR-33614-024 IL2RA ANKRD16 ENSG00000232807 FBH1 CALML3-AS1 RBM17 PFKFB3 IL15RA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004911 | contributes_to interleukin-2 receptor activity | IEA,IMP | 2467293 |
GO:0005515 | protein binding | IPI | 16477002 |
GO:0019976 | interleukin-2 binding | IEA,IBA | 21873635 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
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
|
4 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
|
JAK-STAT Pathway
.57
JNK Pathway
.51
|
5 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
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 |
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 | 148 | ||
Aldesleukin | Approved | Pharma | Target, agonist, modulator, inhibitor | 457 | ||
Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 86 | ||
Thalidomide | Approved, Investigational, Withdrawn | Pharma | Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents | 429 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
AS 101 |
|
106566-58-9 |
|
|||
GIT 27 |
|
6501-72-0 |
|
|
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 |
Compound | Action | Cas Number |
---|---|---|
Dexamethasone Sodium Phosphate | 55203-24-2 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL2RA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL2RA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Il2ra 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il2ra 30 |
|
||
Cow (Bos Taurus) |
Mammalia | IL2RA 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL2RA 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641669 | Uncertain Significance: Interleukin 2 receptor, alpha, deficiency of | 6,024,348(-) | C/T | MISSENSE_VARIANT | |
641863 | Uncertain Significance: Interleukin 2 receptor, alpha, deficiency of | 6,021,644(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT | |
642134 | Uncertain Significance: Interleukin 2 receptor, alpha, deficiency of | 6,021,577(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
649910 | Uncertain Significance: Interleukin 2 receptor, alpha, deficiency of | 6,025,820(-) | GAAGGGACAC/G | INTRON_VARIANT | |
652352 | Uncertain Significance: Interleukin 2 receptor, alpha, deficiency of | 6,025,908(-) | C/A | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 41 with lymphoproliferation and autoimmunity |
|
|
diabetes mellitus, insulin-dependent, 10 |
|
|
intermediate uveitis |
|
|
posterior uveitis |
|
|
autoimmune enteropathy |
|
|