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MGP001605

UniProt Annotations

Entry Information
Gene Nameinterleukin 2 receptor, alpha
Protein EntryIL2RA_HUMAN
UniProt IDP01589
SpeciesHuman
Comments
Comment typeDescription
DiseaseDiabetes 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.
FunctionReceptor for interleukin-2.
SimilarityContains 2 Sushi (CCP/SCR) domains. {ECO:0000255|PROSITE-ProRule:PRU00302}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitNon-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. {ECO:0000269|PubMed:16293754, ECO:0000269|PubMed:16477002}.
Web ResourceName=IL2RAbase; Note=IL2RA mutation db; URL="http://structure.bmc.lu.se/idbase/IL2RAbase/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2ra/";
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