true
1986-07-21
2024-03-27
227
IL2RA_HUMAN
Molecular cloning of cDNA encoding human interleukin-2 receptor.
Nikaido T.
Shimizu A.
Ishida N.
Sabe H.
Teshigawara K.
Maeda M.
Uchiyama T.
Yodoi J.
Honjo T.
doi:10.1038/311631a0
1984
Nature
311
631-635
NUCLEOTIDE SEQUENCE [MRNA]
Molecular cloning and expression of cDNAs for the human interleukin-2 receptor.
Leonard W.J.
Depper J.M.
Crabtree G.R.
Rudikoff S.
Pumphrey J.
Robb R.J.
Kroenke M.
Svetlik P.B.
Peffer N.J.
Waldmann T.A.
Greene W.C.
doi:10.1038/311626a0
1984
Nature
311
626-631
NUCLEOTIDE SEQUENCE [MRNA]
Molecular cloning and structure of the human interleukin 2 receptor gene.
Ishida N.
Kanamori H.
Noma T.
Nikaido T.
Sabe H.
Suzuki N.
Shimizu A.
Honjo T.
doi:10.1093/nar/13.21.7579
1985
Nucleic Acids Res.
13
7579-7589
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
Structure of the human interleukin-2 receptor gene.
Leonard W.J.
Depper J.M.
Kanehisa M.
Kroenke M.
Peffer N.J.
Svetlik P.B.
Sullivan M.
Greene W.C.
doi:10.1126/science.2996141
1985
Science
230
633-639
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
SeattleSNPs variation discovery resource
2004-03
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
VARIANT THR-272
The DNA sequence and comparative analysis of human chromosome 10.
Deloukas P.
Earthrowl M.E.
Grafham D.V.
Rubenfield M.
French L.
Steward C.A.
Sims S.K.
Jones M.C.
Searle S.
Scott C.
Howe K.
Hunt S.E.
Andrews T.D.
Gilbert J.G.R.
Swarbreck D.
Ashurst J.L.
Taylor A.
Battles J.
Bird C.P.
Ainscough R.
Almeida J.P.
Ashwell R.I.S.
Ambrose K.D.
Babbage A.K.
Bagguley C.L.
Bailey J.
Banerjee R.
Bates K.
Beasley H.
Bray-Allen S.
Brown A.J.
Brown J.Y.
Burford D.C.
Burrill W.
Burton J.
Cahill P.
Camire D.
Carter N.P.
Chapman J.C.
Clark S.Y.
Clarke G.
Clee C.M.
Clegg S.
Corby N.
Coulson A.
Dhami P.
Dutta I.
Dunn M.
Faulkner L.
Frankish A.
Frankland J.A.
Garner P.
Garnett J.
Gribble S.
Griffiths C.
Grocock R.
Gustafson E.
Hammond S.
Harley J.L.
Hart E.
Heath P.D.
Ho T.P.
Hopkins B.
Horne J.
Howden P.J.
Huckle E.
Hynds C.
Johnson C.
Johnson D.
Kana A.
Kay M.
Kimberley A.M.
Kershaw J.K.
Kokkinaki M.
Laird G.K.
Lawlor S.
Lee H.M.
Leongamornlert D.A.
Laird G.
Lloyd C.
Lloyd D.M.
Loveland J.
Lovell J.
McLaren S.
McLay K.E.
McMurray A.
Mashreghi-Mohammadi M.
Matthews L.
Milne S.
Nickerson T.
Nguyen M.
Overton-Larty E.
Palmer S.A.
Pearce A.V.
Peck A.I.
Pelan S.
Phillimore B.
Porter K.
Rice C.M.
Rogosin A.
Ross M.T.
Sarafidou T.
Sehra H.K.
Shownkeen R.
Skuce C.D.
Smith M.
Standring L.
Sycamore N.
Tester J.
Thorpe A.
Torcasso W.
Tracey A.
Tromans A.
Tsolas J.
Wall M.
Walsh J.
Wang H.
Weinstock K.
West A.P.
Willey D.L.
Whitehead S.L.
Wilming L.
Wray P.W.
Young L.
Chen Y.
Lovering R.C.
Moschonas N.K.
Siebert R.
Fechtel K.
Bentley D.
Durbin R.M.
Hubbard T.
Doucette-Stamm L.
Beck S.
Smith D.R.
Rogers J.
doi:10.1038/nature02462
2004
Nature
429
375-381
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
Mural R.J.
Istrail S.
Sutton G.G.
Florea L.
Halpern A.L.
Mobarry C.M.
Lippert R.
Walenz B.
Shatkay H.
Dew I.
Miller J.R.
Flanigan M.J.
Edwards N.J.
Bolanos R.
Fasulo D.
Halldorsson B.V.
Hannenhalli S.
Turner R.
Yooseph S.
Lu F.
Nusskern D.R.
Shue B.C.
Zheng X.H.
Zhong F.
Delcher A.L.
Huson D.H.
Kravitz S.A.
Mouchard L.
Reinert K.
Remington K.A.
Clark A.G.
Waterman M.S.
Eichler E.E.
Adams M.D.
Hunkapiller M.W.
Myers E.W.
Venter J.C.
2005-09
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
Regulation of the human interleukin-2 receptor alpha chain promoter: activation of a nonfunctional promoter by the transactivator gene of HTLV-I.
Cross S.L.
Feinberg M.B.
Wolf J.B.
Holbrook N.J.
Wong-Stall F.
Leonard W.J.
doi:10.1016/0092-8674(87)90754-9
1987
Cell
49
47-56
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-21
Structural analysis of recombinant soluble human interleukin-2 receptor. Primary structure, assignment of disulfide bonds and core IL-2 binding structure.
Miedel M.C.
Hulmes J.D.
Weber D.V.
Bailon P.
Pan Y.C.
doi:10.1016/0006-291x(88)90695-x
1988
Biochem. Biophys. Res. Commun.
154
372-379
DISULFIDE BONDS
GLYCOSYLATION AT ASN-70; ASN-89; THR-218; THR-224; THR-229 AND THR-237
The interleukin-2 and interleukin-4 receptors studied by molecular modelling.
Bamborough P.
Hedgecock C.J.
Richards W.G.
doi:10.1016/s0969-2126(94)00085-9
1994
Structure
2
839-851
3D-STRUCTURE MODELING OF 23-83
Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.
Wang X.
Rickert M.
Garcia K.C.
doi:10.1126/science.1117893
2005
Science
310
1159-1163
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 22-238 IN COMPLEX WITH IL2; IL2RB AND IL2RC
DISULFIDE BONDS
Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor.
Stauber D.J.
Debler E.W.
Horton P.A.
Smith K.A.
Wilson I.A.
doi:10.1073/pnas.0511161103
2006
Proc. Natl. Acad. Sci. U.S.A.
103
2788-2793
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 22-233 IN COMPLEX WITH IL2; IL2RB AND IL2RC
DISULFIDE BONDS
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.
Lowe C.E.
Cooper J.D.
Brusko T.
Walker N.M.
Smyth D.J.
Bailey R.
Bourget K.
Plagnol V.
Field S.
Atkinson M.
Clayton D.G.
Wicker L.S.
Todd J.A.
doi:10.1038/ng2102
2007
Nat. Genet.
39
1074-1082
INVOLVEMENT IN T1D10
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity.
Goudy K.
Aydin D.
Barzaghi F.
Gambineri E.
Vignoli M.
Ciullini Mannurita S.
Doglioni C.
Ponzoni M.
Cicalese M.P.
Assanelli A.
Tommasini A.
Brigida I.
Dellepiane R.M.
Martino S.
Olek S.
Aiuti A.
Ciceri F.
Roncarolo M.G.
Bacchetta R.
doi:10.1016/j.clim.2013.01.004
2013
Clin. Immunol.
146
248-261
FUNCTION
INVOLVEMENT IN IMD41
VARIANT IMD41 ASN-166
CHARACTERIZATION OF VARIANT IMD41 ASN-166
Follicular bronchiolitis as phenotype associated with CD25 deficiency.
Bezrodnik L.
Caldirola M.S.
Seminario A.G.
Moreira I.
Gaillard M.I.
doi:10.1111/cei.12214
2014
Clin. Exp. Immunol.
175
227-234
FUNCTION
INVOLVEMENT IN IMD41
VARIANT IMD41 SER-41
IL2RAbase; IL2RA mutation db
SeattleSNPs
Sequence problems.
UHHU2
2.80
B=22-238
2.30
D=22-238
3.00
A/E=22-233
2.90
I/J/K=22-238
2.86
I/K=22-238
3.40
A=22-186
1.83
B=22-213
3.20
A=26-186
3.20
D=21-238
84
2
Aldesleukin
Basiliximab
Camidanlumab tesirine
Daclizumab
Denileukin diftitox
Inolimomab
6 sites, No reported glycans
6 sites
13 sequenced antibodies
3590 antibodies from 53 providers
human
IL2RA
Tissue enhanced (adipose tissue, lymphoid tissue, urinary bladder)
gene
phenotype
phenotype
Immunodeficiency due to CD25 deficiency
Oligoarticular juvenile idiopathic arthritis
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Eukaryota
RAF/MAP kinase cascade
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Interleukin-2 signaling
Interleukin receptor SHC signaling
22 hits in 1155 CRISPR screens
human
Tclin
Protein
Expressed in lymph node and 112 other cell types or tissues
baseline and differential
CCP
IL-2_rcpt_alpha
Sushi/SCR/CCP_sf
Sushi_SCR_CCP_dom
INTERLEUKIN-2 RECEPTOR ALPHA CHAIN
INTERLEUKIN-2 RECEPTOR SUBUNIT ALPHA
Sushi
CCP
Complement control module/SCR domain
SUSHI
HS
Interleukin-2 receptor subunit alpha
IL-2 receptor subunit alpha
IL-2-RA
IL-2R subunit alpha
IL2-RA
TAC antigen
p55
CD25
IL2RA
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.
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.
Disease susceptibility is associated with variants affecting the gene represented in this entry.
The disease is caused by variants affecting the gene represented in this entry.
1
21
Interleukin-2 receptor subunit alpha
28447
22
272
Extracellular
240
Helical
241
259
Cytoplasmic
260
Sushi 1
84
Sushi 2
123
186
Disordered
87
Disordered
190
212
N-linked (GlcNAc...) asparagine
70
N-linked (GlcNAc...) asparagine
89
O-linked (GalNAc...) threonine
218
O-linked (GalNAc...) threonine
224
O-linked (GalNAc...) threonine
229
O-linked (GalNAc...) threonine
237
24
168
49
80
51
82
67
125
152
184
In IMD41.
S
41
In IMD41; the receptor does not localize to the plasma membrane.
N
166
T
34
37
39
42
46
48
55
57
63
69
74
78
135
137
143
145
147
157
162
165
171
174
177
182
185
false
3
IL2
1986-07-21
1
true
30819
723e6a9f9f8cfdcc65f91030b8b08423
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQCQCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALHRGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI
true
true
true
true
true
true
true
true
true
true
true
true
true
true
true