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
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
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.
ModBase Predicted Comparative 3D Structure on P01589
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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.