Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3559
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL2RA   Gene   UCSC   Ensembl
Aliases CD25, IDDM10, IL2R, IMD41, TCGFR, p55
Gene name interleukin 2 receptor subunit alpha
Alternate names interleukin-2 receptor subunit alpha, IL-2 receptor subunit alpha, IL-2R subunit alpha, TAC antigen, interleukin 2 receptor, alpha,
Gene location 10p15.1 (6062369: 6010693)     Exons: 8     NC_000010.11
Gene summary(Entrez) 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]
OMIM 147730

Protein Summary

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
TAS biological_process
GO:0002437 inflammatory response to
antigenic stimulus
IEA biological_process
GO:0002664 regulation of T cell tole
rance induction
IMP biological_process
GO:0004911 interleukin-2 receptor ac
tivity
IEA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006924 activation-induced cell d
eath of T cells
IEA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008144 drug binding
IEA molecular_function
GO:0008283 cell proliferation
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019976 interleukin-2 binding
IBA molecular_function
GO:0038110 interleukin-2-mediated si
gnaling pathway
IEA biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IEA biological_process
GO:0042130 negative regulation of T
cell proliferation
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0045582 positive regulation of T
cell differentiation
IEA biological_process
GO:0046013 regulation of T cell home
ostatic proliferation
IEA biological_process
GO:0050687 negative regulation of de
fense response to virus
IEA biological_process
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050777 negative regulation of im
mune response
IEA biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0002376 immune system process
IEA biological_process
GO:0002437 inflammatory response to
antigenic stimulus
IEA biological_process
GO:0002664 regulation of T cell tole
rance induction
IMP biological_process
GO:0004911 interleukin-2 receptor ac
tivity
IEA molecular_function
GO:0004911 interleukin-2 receptor ac
tivity
TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006924 activation-induced cell d
eath of T cells
IEA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008144 drug binding
IEA molecular_function
GO:0008283 cell proliferation
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0009986 cell surface
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019976 interleukin-2 binding
IBA molecular_function
GO:0038110 interleukin-2-mediated si
gnaling pathway
IEA biological_process
GO:0042102 positive regulation of T
cell proliferation
IEA biological_process
GO:0042104 positive regulation of ac
tivated T cell proliferat
ion
IEA biological_process
GO:0042130 negative regulation of T
cell proliferation
IEA biological_process
GO:0043029 T cell homeostasis
IEA biological_process
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0045582 positive regulation of T
cell differentiation
IEA biological_process
GO:0046013 regulation of T cell home
ostatic proliferation
IEA biological_process
GO:0050672 negative regulation of ly
mphocyte proliferation
IEA biological_process
GO:0050687 negative regulation of de
fense response to virus
IEA biological_process
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050777 negative regulation of im
mune response
IEA biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0002664 regulation of T cell tole
rance induction
IMP biological_process
GO:0004911 interleukin-2 receptor ac
tivity
TAS molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006915 apoptotic process
TAS biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007166 cell surface receptor sig
naling pathway
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0019976 interleukin-2 binding
IBA molecular_function

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa05166  HTLV-I infection
hsa04630  Jak-STAT signaling pathway
hsa04659  Th17 cell differentiation
hsa04144  Endocytosis
hsa05162  Measles
hsa04640  Hematopoietic cell lineage
hsa04658  Th1 and Th2 cell differentiation

Diseases

Associated diseases References
Addison's disease PMID: 18593762
Alopecia areata PMID: 20596022
Alzheimer's disease PMID: 16385451
Asthenozoospermia PMID: 8046017
Connective tissue diseases PMID: 19527514
Crohn's disease PMID: 21102463
Diabetes KEGG: H00408, OMIM: 147730
Endometriosis PMID: 19602517
Graves disease PMID: 17371467
Implantation failure PMID: 15105393
Inflammation PMID: 22228203
Inflammatory bowel disease PMID: 19471255
Juvenile arthritis PMID: 19116909
Male infertility PMID: 9262280
Miscarriage PMID: 21314851
Multiple sclerosis PMID: 18354419
Ovarian hyperstimulation syndrome (OHSS) PMID: 12455193
Pregnancy loss PMID: 22436290
Reproductive failure PMID: 23173675
Rheumatoid arthritis PMID: 20453842
Systemic lupus erythematosus PMID: 19265545
Unexplained infertility PMID: 10224804
Unexplained infertility PMID: 10224804
Vitiligo PMID: 20410501

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11526783 Endometrio
sis


HLA-DR
CD40
CD25
Show abstract