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Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)

 IL2RG_HUMAN             Reviewed;         369 AA.
P31785; Q5FC12;
01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
01-JUL-1993, sequence version 1.
25-OCT-2017, entry version 203.
RecName: Full=Cytokine receptor common subunit gamma;
AltName: Full=Interleukin-2 receptor subunit gamma;
Short=IL-2 receptor subunit gamma;
Short=IL-2R subunit gamma;
Short=IL-2RG;
AltName: Full=gammaC;
AltName: Full=p64;
AltName: CD_antigen=CD132;
Flags: Precursor;
Name=IL2RG;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PARTIAL PROTEIN SEQUENCE.
PubMed=1631559; DOI=10.1126/science.1631559;
Takeshita T., Asao H., Ohtani K., Ishii N., Kumaki S., Tanaka N.,
Munakata H., Nakamura M., Sugamura K.;
"Cloning of the gamma chain of the human IL-2 receptor.";
Science 257:379-382(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Liver;
PubMed=8514792;
Noguchi M., Adelstein S., Cao X., Leonard W.J.;
"Characterization of the human interleukin-2 receptor gamma chain
gene.";
J. Biol. Chem. 268:13601-13608(1993).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS XSCID ASP-114 AND
ASN-153.
PubMed=8401490; DOI=10.1093/hmg/2.8.1099;
Puck J.M., Deschenes S.M., Porter J.C., Dutra A.S., Brown C.J.,
Willard H., Henthorn P.S.;
"The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated
in X-linked severe combined immunodeficiency, SCIDX1.";
Hum. Mol. Genet. 2:1099-1104(1993).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Hayashi A., Sameshima E., Tabata Y., Iida K., Mitsuyama M., Kanai S.,
Furuya T., Saito T.;
"IL2RG mRNA, nirs splice variant 2.";
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-109.
SeattleSNPs variation discovery resource;
Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=B-cell;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
IDENTIFICATION AS A IL4R SUBUNIT.
PubMed=8266076; DOI=10.1126/science.8266076;
Kondo M., Takeshita T., Ishii N., Nakamura M., Watanabe S., Arai K.,
Sugamura K.;
"Sharing of the interleukin-2 (IL-2) receptor gamma chain between
receptors for IL-2 and IL-4.";
Science 262:1874-1877(1993).
[9]
IDENTIFICATION AS A IL4R SUBUNIT.
PubMed=8266078; DOI=10.1126/science.8266078;
Russell S.M., Kkegan A.D., Harada N., Nakamura Y., Noguchi M.,
Leland P., Friedmann M.C., Miyajima A., Puri R.K., Paul W.E.,
Leonard W.J.;
"Interleukin-2 receptor gamma chain: a functional component of the
interleukin-4 receptor.";
Science 262:1880-1883(1993).
[10]
IDENTIFICATION AS A IL7R SUBUNIT.
PubMed=8266077; DOI=10.1126/science.8266077;
Noguchi M., Nakamura Y., Russell S.M., Ziegler S.F., Tsang M., Cao X.,
Leonard W.J.;
"Interleukin-2 receptor gamma chain: a functional component of the
interleukin-7 receptor.";
Science 262:1877-1880(1993).
[11]
INTERACTION WITH HTLV-1 ACCESSORY PROTEIN P12I.
PubMed=8648694;
Mulloy J.C., Crownley R.W., Fullen J., Leonard W.J., Franchini G.;
"The human T-cell leukemia/lymphotropic virus type 1 p12I proteins
bind the interleukin-2 receptor beta and gammac chains and affects
their expression on the cell surface.";
J. Virol. 70:3599-3605(1996).
[12]
INTERACTION WITH SHB.
PubMed=12200137; DOI=10.1016/S0006-291X(02)02016-8;
Lindholm C.K.;
"IL-2 receptor signaling through the Shb adapter protein in T and NK
cells.";
Biochem. Biophys. Res. Commun. 296:929-936(2002).
[13]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-292, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[14]
3D-STRUCTURE MODELING OF 57-248.
PubMed=7529123; DOI=10.1016/S0969-2126(94)00085-9;
Bamborough P., Hedgecock C.J., Richards W.G.;
"The interleukin-2 and interleukin-4 receptors studied by molecular
modelling.";
Structure 2:839-851(1994).
[15]
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 56-254 IN COMPLEX WITH IL2;
IL2RA AND IL2RB, DISULFIDE BONDS, AND GLYCOSYLATION AT ASN-71; ASN-84
AND ASN-159.
PubMed=16293754; DOI=10.1126/science.1117893;
Wang X., Rickert M., Garcia K.C.;
"Structure of the quaternary complex of interleukin-2 with its alpha,
beta, and gammac receptors.";
Science 310:1159-1163(2005).
[16]
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 23-255 IN COMPLEX WITH IL2;
IL2RA AND IL2RB, DISULFIDE BONDS, AND GLYCOSYLATION AT ASN-71; ASN-84
AND ASN-159.
PubMed=16477002; DOI=10.1073/pnas.0511161103;
Stauber D.J., Debler E.W., Horton P.A., Smith K.A., Wilson I.A.;
"Crystal structure of the IL-2 signaling complex: paradigm for a
heterotrimeric cytokine receptor.";
Proc. Natl. Acad. Sci. U.S.A. 103:2788-2793(2006).
[17]
VARIANTS XSCID PHE-115; CYS-240 AND ILE-241.
PubMed=8299698; DOI=10.1002/eji.1830240232;
Disanto J.P., Dautry-Varsat A., Certain S., Fischer A.,
de Saint Basile G.;
"Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked
severe combined immunodeficiency disease result in the loss of high-
affinity IL-2 receptor binding.";
Eur. J. Immunol. 24:475-479(1994).
[18]
VARIANT XSCID LYS-68.
PubMed=8088810; DOI=10.1006/geno.1994.1265;
Markiewicz S., Subtil A., Dautry-Varsat A., Fischer A.,
de Saint Basile G.;
"Detection of three nonsense mutations and one missense mutation in
the interleukin-2 receptor gamma chain gene in SCIDX1 that differently
affect the mRNA processing.";
Genomics 21:291-293(1994).
[19]
VARIANT XSCID HIS-162.
PubMed=8027558;
Ishii N., Asao H., Kimura Y., Takeshita T., Nakamura M., Tsuchiya S.,
Konno T., Maeda M., Uchiyama T., Sugamura K.;
"Impairment of ligand binding and growth signaling of mutant IL-2
receptor gamma-chains in patients with X-linked severe combined
immunodeficiency.";
J. Immunol. 153:1310-1317(1994).
[20]
VARIANT XSCID ASN-39.
PubMed=7937790; DOI=10.1073/pnas.91.20.9466;
Disanto J.P., Rieux-Laucat F., Dautry-Varsat A., Fischer A.,
de Saint Basile G.;
"Defective human interleukin 2 receptor gamma chain in an atypical X
chromosome-linked severe combined immunodeficiency with peripheral T
cells.";
Proc. Natl. Acad. Sci. U.S.A. 91:9466-9470(1994).
[21]
VARIANTS XSCID CYS-226 AND HIS-226.
PubMed=7668284;
Pepper A.E., Buckley R.H., Small T.N., Puck J.M.;
"Two mutational hotspots in the interleukin-2 receptor gamma chain
gene causing human X-linked severe combined immunodeficiency.";
Am. J. Hum. Genet. 57:564-571(1995).
[22]
VARIANT XSCID SER-183.
PubMed=7557965; DOI=10.1007/BF00191801;
Clark P.A., Lester T., Genet S., Jones A.M., Hendriks R.,
Levinsky R.L., Kinnon C.;
"Screening for mutations causing X-linked severe combined
immunodeficiency in the IL-2R gamma chain gene by single-strand
conformation polymorphism analysis.";
Hum. Genet. 96:427-432(1995).
[23]
VARIANT XSCID GLN-HIS-TRP-237 INS.
PubMed=7860773; DOI=10.1172/JCI117740;
Puck J.M., Pepper A.E., Bedard P.-M., Laframboise R.;
"Female germ line mosaicism as the origin of a unique IL-2 receptor
gamma-chain mutation causing X-linked severe combined
immunodeficiency.";
J. Clin. Invest. 95:895-899(1995).
[24]
VARIANT XCID GLN-293.
PubMed=7883965; DOI=10.1172/JCI117765;
Schmalstieg F.C., Leonard W.J., Noguchi M., Berg M., Rudloff H.E.,
Denney R.M., Dave S.K., Brooks E.G., Goldman A.S.;
"Missense mutation in exon 7 of the common gamma chain gene causes a
moderate form of X-linked combined immunodeficiency.";
J. Clin. Invest. 95:1169-1173(1995).
[25]
VARIANT XSCID ARG-115.
PubMed=8900089; DOI=10.1056/NEJM199611213352104;
Stephan V., Wahn V., Le Deist F., Dirksen U., Broeker B.,
Mueller-Fleckenstein I., Horneff G., Schroten H., Fischer A.,
de Saint Basile G.;
"Atypical X-linked severe combined immunodeficiency due to possible
spontaneous reversion of the genetic defect in T cells.";
N. Engl. J. Med. 335:1563-1567(1996).
[26]
VARIANT XSCID GLN-285.
PubMed=9150740; DOI=10.1007/s004390050428;
Jones A.M., Clark P.A., Katz F., Genet S., McMahon C., Alterman L.,
Cant A., Kinnon C.;
"B-cell-negative severe combined immunodeficiency associated with a
common gamma chain mutation.";
Hum. Genet. 99:677-680(1997).
[27]
VARIANT XSCID TRP-224.
PubMed=9049783; DOI=10.1023/A:1027332327827;
O'Marcaigh A.S., Puck J.M., Pepper A.E., De Santes K., Cowan M.J.;
"Maternal mosaicism for a novel interleukin-2 receptor gamma-chain
mutation causing X-linked severe combined immunodeficiency in a Navajo
kindred.";
J. Clin. Immunol. 17:29-33(1997).
[28]
VARIANT XCID CYS-222.
PubMed=9399950; DOI=10.1172/JCI119858;
Sharfe N., Shahar M., Roifman C.M.;
"An interleukin-2 receptor gamma chain mutation with normal thymus
morphology.";
J. Clin. Invest. 100:3036-3043(1997).
-!- FUNCTION: Common subunit for the receptors for a variety of
interleukins.
-!- SUBUNIT: The gamma subunit is common to the IL2, IL4, IL7, IL15,
IL21 and probably also the IL13 receptors. Interacts with SHB upon
interleukin stimulation. Interacts with HTLV-1 accessory protein
p12I. {ECO:0000269|PubMed:12200137, ECO:0000269|PubMed:16293754,
ECO:0000269|PubMed:16477002, ECO:0000269|PubMed:8648694}.
-!- INTERACTION:
P13232:IL7; NbExp=2; IntAct=EBI-80475, EBI-80516;
Q6L8G8:KRTAP5-7; NbExp=4; IntAct=EBI-80475, EBI-11987425;
Q7Z3S9:NOTCH2NL; NbExp=3; IntAct=EBI-80475, EBI-945833;
-!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P31785-1; Sequence=Displayed;
Name=2;
IsoId=P31785-2; Sequence=VSP_047581, VSP_047582;
-!- DOMAIN: The WSXWS motif appears to be necessary for proper protein
folding and thereby efficient intracellular transport and cell-
surface receptor binding.
-!- DOMAIN: The box 1 motif is required for JAK interaction and/or
activation.
-!- DISEASE: Severe combined immunodeficiency X-linked T-cell-
negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A
form of severe combined immunodeficiency (SCID), a genetically and
clinically heterogeneous group of rare congenital disorders
characterized by impairment of both humoral and cell-mediated
immunity, leukopenia, and low or absent antibody levels. Patients
present in infancy recurrent, persistent infections by
opportunistic organisms. The common characteristic of all types of
SCID is absence of T-cell-mediated cellular immunity due to a
defect in T-cell development. {ECO:0000269|PubMed:7557965,
ECO:0000269|PubMed:7668284, ECO:0000269|PubMed:7860773,
ECO:0000269|PubMed:7937790, ECO:0000269|PubMed:8027558,
ECO:0000269|PubMed:8088810, ECO:0000269|PubMed:8299698,
ECO:0000269|PubMed:8401490, ECO:0000269|PubMed:8900089,
ECO:0000269|PubMed:9049783, ECO:0000269|PubMed:9150740}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: X-linked combined immunodeficiency (XCID) [MIM:312863]:
Less severe form of X-linked immunodeficiency with a less severe
degree of deficiency in cellular and humoral immunity than that
seen in XSCID. {ECO:0000269|PubMed:7883965,
ECO:0000269|PubMed:9399950}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 5
subfamily. {ECO:0000305}.
-!- WEB RESOURCE: Name=IL2RGbase; Note=X-linked SCID mutation
database;
URL="http://research.nhgri.nih.gov/scid/";
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/il2rg/";
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EMBL; D11086; BAA01857.1; -; mRNA.
EMBL; L12183; AAA59145.1; -; Genomic_DNA.
EMBL; L12178; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12176; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12177; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12179; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12180; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12181; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L12182; AAA59145.1; JOINED; Genomic_DNA.
EMBL; L19546; AAC37524.1; -; Genomic_DNA.
EMBL; AB102794; BAD89385.1; -; mRNA.
EMBL; AY692262; AAT85803.1; -; Genomic_DNA.
EMBL; AL590764; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC014972; AAH14972.1; -; mRNA.
CCDS; CCDS14406.1; -. [P31785-1]
PIR; A42565; A42565.
RefSeq; NP_000197.1; NM_000206.2. [P31785-1]
UniGene; Hs.84; -.
PDB; 1ILL; Model; -; G=57-248.
PDB; 1ILM; Model; -; G=57-248.
PDB; 1ILN; Model; -; G=57-248.
PDB; 1ITE; Model; -; B=23-254.
PDB; 2B5I; X-ray; 2.30 A; C=56-254.
PDB; 2ERJ; X-ray; 3.00 A; C/G=23-255.
PDB; 3BPL; X-ray; 2.93 A; C=56-254.
PDB; 3QAZ; X-ray; 3.80 A; C/F/I/L/O/R/U/X/a/d/g/j=56-254.
PDB; 3QB7; X-ray; 3.24 A; C/D=55-254.
PDB; 4GS7; X-ray; 2.35 A; C=55-254.
PDB; 5M5E; X-ray; 2.30 A; C=23-262.
PDBsum; 1ILL; -.
PDBsum; 1ILM; -.
PDBsum; 1ILN; -.
PDBsum; 1ITE; -.
PDBsum; 2B5I; -.
PDBsum; 2ERJ; -.
PDBsum; 3BPL; -.
PDBsum; 3QAZ; -.
PDBsum; 3QB7; -.
PDBsum; 4GS7; -.
PDBsum; 5M5E; -.
ProteinModelPortal; P31785; -.
SMR; P31785; -.
BioGrid; 109776; 20.
CORUM; P31785; -.
DIP; DIP-173N; -.
IntAct; P31785; 15.
MINT; MINT-1524852; -.
STRING; 9606.ENSP00000363318; -.
ChEMBL; CHEMBL2364167; -.
DrugBank; DB00041; Aldesleukin.
DrugBank; DB00004; Denileukin diftitox.
GuidetoPHARMACOLOGY; 2303; -.
iPTMnet; P31785; -.
PhosphoSitePlus; P31785; -.
BioMuta; IL2RG; -.
DMDM; 400048; -.
EPD; P31785; -.
MaxQB; P31785; -.
PaxDb; P31785; -.
PeptideAtlas; P31785; -.
PRIDE; P31785; -.
DNASU; 3561; -.
Ensembl; ENST00000374202; ENSP00000363318; ENSG00000147168. [P31785-1]
Ensembl; ENST00000456850; ENSP00000388967; ENSG00000147168. [P31785-2]
GeneID; 3561; -.
KEGG; hsa:3561; -.
UCSC; uc004dyw.4; human. [P31785-1]
CTD; 3561; -.
DisGeNET; 3561; -.
EuPathDB; HostDB:ENSG00000147168.12; -.
GeneCards; IL2RG; -.
GeneReviews; IL2RG; -.
HGNC; HGNC:6010; IL2RG.
HPA; HPA046641; -.
HPA; HPA049691; -.
MalaCards; IL2RG; -.
MIM; 300400; phenotype.
MIM; 308380; gene.
MIM; 312863; phenotype.
neXtProt; NX_P31785; -.
OpenTargets; ENSG00000147168; -.
Orphanet; 39041; Omenn syndrome.
Orphanet; 276; T-B+ severe combined immunodeficiency due to gamma chain deficiency.
PharmGKB; PA196; -.
eggNOG; ENOG410IGNI; Eukaryota.
eggNOG; ENOG4111N9N; LUCA.
GeneTree; ENSGT00510000048979; -.
HOGENOM; HOG000276891; -.
HOVERGEN; HBG052111; -.
InParanoid; P31785; -.
KO; K05070; -.
OMA; CNQHSPY; -.
OrthoDB; EOG091G07RI; -.
PhylomeDB; P31785; -.
TreeFam; TF333657; -.
Reactome; R-HSA-114604; GPVI-mediated activation cascade.
Reactome; R-HSA-1266695; Interleukin-7 signaling.
Reactome; R-HSA-392451; G beta:gamma signalling through PI3Kgamma.
Reactome; R-HSA-451927; Interleukin-2 family signaling.
Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
Reactome; R-HSA-6785807; Interleukin-4 and 13 signaling.
Reactome; R-HSA-8983432; Interleukin-15 signaling.
Reactome; R-HSA-8985947; Interleukin-9 signaling.
Reactome; R-HSA-912526; Interleukin receptor SHC signaling.
SignaLink; P31785; -.
SIGNOR; P31785; -.
ChiTaRS; IL2RG; human.
EvolutionaryTrace; P31785; -.
GeneWiki; Common_gamma_chain; -.
GenomeRNAi; 3561; -.
PMAP-CutDB; P31785; -.
PRO; PR:P31785; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000147168; -.
CleanEx; HS_IL2RG; -.
ExpressionAtlas; P31785; baseline and differential.
Genevisible; P31785; HS.
GO; GO:0009897; C:external side of plasma membrane; ISS:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005622; C:intracellular; IEA:GOC.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0004896; F:cytokine receptor activity; IEA:InterPro.
GO; GO:0019976; F:interleukin-2 binding; ISS:UniProtKB.
GO; GO:0005088; F:Ras guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0006955; P:immune response; TAS:ProtInc.
GO; GO:0038110; P:interleukin-2-mediated signaling pathway; IEA:GOC.
GO; GO:0035771; P:interleukin-4-mediated signaling pathway; IEA:GOC.
GO; GO:0038111; P:interleukin-7-mediated signaling pathway; TAS:Reactome.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
GO; GO:0007165; P:signal transduction; NAS:ProtInc.
GO; GO:0016032; P:viral process; IEA:UniProtKB-KW.
CDD; cd00063; FN3; 1.
Gene3D; 2.60.40.10; -; 2.
InterPro; IPR003961; FN3_dom.
InterPro; IPR036116; FN3_sf.
InterPro; IPR003531; Hempt_rcpt_S_F1_CS.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR015321; TypeI_recpt_CBD.
Pfam; PF09240; IL6Ra-bind; 1.
SUPFAM; SSF49265; SSF49265; 2.
PROSITE; PS50853; FN3; 1.
PROSITE; PS01355; HEMATOPO_REC_S_F1; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Direct protein sequencing; Disease mutation; Disulfide bond;
Glycoprotein; Host-virus interaction; Membrane; Phosphoprotein;
Polymorphism; Receptor; Reference proteome; SCID; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 22
CHAIN 23 369 Cytokine receptor common subunit gamma.
/FTId=PRO_0000010866.
TOPO_DOM 23 262 Extracellular. {ECO:0000255}.
TRANSMEM 263 283 Helical. {ECO:0000255}.
TOPO_DOM 284 369 Cytoplasmic. {ECO:0000255}.
DOMAIN 156 253 Fibronectin type-III.
{ECO:0000255|PROSITE-ProRule:PRU00316}.
MOTIF 237 241 WSXWS motif.
MOTIF 286 294 Box 1 motif.
MOD_RES 292 292 Phosphothreonine.
{ECO:0000244|PubMed:19690332}.
CARBOHYD 24 24 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 71 71 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:16293754,
ECO:0000269|PubMed:16477002}.
CARBOHYD 75 75 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 84 84 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:16293754,
ECO:0000269|PubMed:16477002}.
CARBOHYD 159 159 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:16293754,
ECO:0000269|PubMed:16477002}.
CARBOHYD 249 249 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 62 72
DISULFID 102 115
DISULFID 182 231
VAR_SEQ 1 8 MLKPSLPF -> MGMKTPQL (in isoform 2).
{ECO:0000303|Ref.4}.
/FTId=VSP_047581.
VAR_SEQ 9 198 Missing (in isoform 2).
{ECO:0000303|Ref.4}.
/FTId=VSP_047582.
VARIANT 39 39 D -> N (in XSCID).
{ECO:0000269|PubMed:7937790}.
/FTId=VAR_002668.
VARIANT 44 44 T -> S (in dbSNP:rs7885041).
/FTId=VAR_059301.
VARIANT 62 62 C -> G (in XSCID).
/FTId=VAR_002669.
VARIANT 68 68 E -> G (in XSCID).
/FTId=VAR_002670.
VARIANT 68 68 E -> K (in XSCID).
{ECO:0000269|PubMed:8088810}.
/FTId=VAR_002671.
VARIANT 84 84 N -> K (in XSCID).
/FTId=VAR_002672.
VARIANT 89 89 Y -> C (in XSCID).
/FTId=VAR_002673.
VARIANT 105 105 Y -> C (in XSCID; dbSNP:rs193922347).
/FTId=VAR_002674.
VARIANT 109 109 E -> K (in dbSNP:rs17875899).
{ECO:0000269|Ref.5}.
/FTId=VAR_020611.
VARIANT 114 114 G -> D (in XSCID; dbSNP:rs111033620).
{ECO:0000269|PubMed:8401490}.
/FTId=VAR_002675.
VARIANT 115 115 C -> F (in XSCID).
{ECO:0000269|PubMed:8299698}.
/FTId=VAR_002676.
VARIANT 115 115 C -> R (in XSCID; atypical;
dbSNP:rs111033622).
{ECO:0000269|PubMed:8900089}.
/FTId=VAR_002677.
VARIANT 123 123 H -> P (in XSCID).
/FTId=VAR_002678.
VARIANT 125 125 Y -> N (in XSCID).
/FTId=VAR_002679.
VARIANT 144 144 Q -> P (in XSCID).
/FTId=VAR_002680.
VARIANT 153 153 I -> N (in XSCID; dbSNP:rs111033621).
{ECO:0000269|PubMed:8401490}.
/FTId=VAR_002681.
VARIANT 156 156 A -> V (in XSCID).
/FTId=VAR_002682.
VARIANT 162 162 L -> H (in XSCID).
{ECO:0000269|PubMed:8027558}.
/FTId=VAR_002683.
VARIANT 172 172 L -> P (in XSCID).
/FTId=VAR_002684.
VARIANT 172 172 L -> Q (in XSCID).
/FTId=VAR_002685.
VARIANT 182 182 C -> R (in XSCID).
/FTId=VAR_002686.
VARIANT 183 183 L -> S (in XSCID).
{ECO:0000269|PubMed:7557965}.
/FTId=VAR_002687.
VARIANT 222 222 R -> C (in XCID; dbSNP:rs111033618).
{ECO:0000269|PubMed:9399950}.
/FTId=VAR_002688.
VARIANT 224 224 R -> W (in XSCID; dbSNP:rs869320658).
{ECO:0000269|PubMed:9049783}.
/FTId=VAR_002689.
VARIANT 226 226 R -> C (in XSCID; dbSNP:rs869320659).
{ECO:0000269|PubMed:7668284}.
/FTId=VAR_002690.
VARIANT 226 226 R -> H (in XSCID; dbSNP:rs869320660).
{ECO:0000269|PubMed:7668284}.
/FTId=VAR_002691.
VARIANT 227 227 F -> C (in XSCID).
/FTId=VAR_002692.
VARIANT 230 230 L -> P (in XSCID).
/FTId=VAR_002693.
VARIANT 231 231 C -> Y (in XSCID).
/FTId=VAR_002694.
VARIANT 232 232 G -> R (in XSCID).
/FTId=VAR_002695.
VARIANT 237 237 W -> WQHW (in XSCID).
{ECO:0000269|PubMed:7860773}.
/FTId=VAR_002696.
VARIANT 240 240 W -> C (in XSCID).
{ECO:0000269|PubMed:8299698}.
/FTId=VAR_002697.
VARIANT 241 241 S -> I (in XSCID).
{ECO:0000269|PubMed:8299698}.
/FTId=VAR_002698.
VARIANT 270 270 M -> R (in XSCID).
/FTId=VAR_002699.
VARIANT 285 285 R -> Q (in XSCID; dbSNP:rs111033617).
{ECO:0000269|PubMed:9150740}.
/FTId=VAR_002701.
VARIANT 293 293 L -> Q (in XCID; dbSNP:rs137852510).
{ECO:0000269|PubMed:7883965}.
/FTId=VAR_002702.
STRAND 61 65 {ECO:0000244|PDB:2B5I}.
TURN 66 68 {ECO:0000244|PDB:2B5I}.
STRAND 69 73 {ECO:0000244|PDB:2B5I}.
STRAND 78 81 {ECO:0000244|PDB:2B5I}.
STRAND 86 91 {ECO:0000244|PDB:2B5I}.
STRAND 94 96 {ECO:0000244|PDB:2B5I}.
STRAND 103 108 {ECO:0000244|PDB:2B5I}.
STRAND 111 118 {ECO:0000244|PDB:2B5I}.
HELIX 119 121 {ECO:0000244|PDB:2B5I}.
STRAND 124 126 {ECO:0000244|PDB:3BPL}.
STRAND 128 133 {ECO:0000244|PDB:2B5I}.
STRAND 135 137 {ECO:0000244|PDB:4GS7}.
STRAND 141 146 {ECO:0000244|PDB:2B5I}.
HELIX 148 150 {ECO:0000244|PDB:2B5I}.
STRAND 151 153 {ECO:0000244|PDB:2B5I}.
STRAND 158 166 {ECO:0000244|PDB:2B5I}.
STRAND 169 175 {ECO:0000244|PDB:2B5I}.
HELIX 180 182 {ECO:0000244|PDB:4GS7}.
STRAND 184 191 {ECO:0000244|PDB:2B5I}.
STRAND 198 202 {ECO:0000244|PDB:2B5I}.
STRAND 207 210 {ECO:0000244|PDB:2B5I}.
STRAND 215 217 {ECO:0000244|PDB:3QB7}.
STRAND 219 226 {ECO:0000244|PDB:2B5I}.
STRAND 229 231 {ECO:0000244|PDB:2B5I}.
STRAND 244 246 {ECO:0000244|PDB:2B5I}.
SEQUENCE 369 AA; 42287 MW; 3B6215246D610215 CRC64;
MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL SVSTLPLPEV
QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ KCSHYLFSEE ITSGCQLQKK
EIHLYQTFVV QLQDPREPRR QATQMLKLQN LVIPWAPENL TLHKLSESQL ELNWNNRFLN
HCLEHLVQYR TDWDHSWTEQ SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW
SHPIHWGSNT SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP CNQHSPYWAP
PCYTLKPET


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