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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.
13-NOV-2019, entry version 219.
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 (MICROBIAL INFECTION).
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]
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=15123770; DOI=10.1189/jlb.0605298;
Ratthe C., Girard D.;
"Interleukin-15 enhances human neutrophil phagocytosis by a Syk-
dependent mechanism: importance of the IL-15Ralpha chain.";
J. Leukoc. Biol. 76:162-168(2004).
[14]
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).
[15]
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).
[16]
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).
[17]
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).
[18]
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).
[19]
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).
[20]
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).
[21]
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).
[22]
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).
[23]
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).
[24]
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).
[25]
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).
[26]
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).
[27]
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).
[28]
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).
[29]
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. Probably in association with IL15RA, involved in the
stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).
{ECO:0000269|PubMed:15123770}.
-!- 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. {ECO:0000269|PubMed:12200137,
ECO:0000269|PubMed:16293754, ECO:0000269|PubMed:16477002}.
-!- SUBUNIT: (Microbial infection) Interacts with HTLV-1 accessory
protein p12I. {ECO:0000269|PubMed:8648694}.
-!- INTERACTION:
P13232:IL7; NbExp=2; IntAct=EBI-80475, EBI-80516;
Q7Z3S9:NOTCH2NLA; NbExp=3; IntAct=EBI-80475, EBI-945833;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15123770};
Single-pass type I membrane protein {ECO:0000255}. Cell surface
{ECO:0000269|PubMed:15123770}.
-!- 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]
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.
PDB; 6OEL; X-ray; 3.10 A; C=61-249.
PDBsum; 1ILL; -.
PDBsum; 1ILM; -.
PDBsum; 1ILN; -.
PDBsum; 1ITE; -.
PDBsum; 2B5I; -.
PDBsum; 2ERJ; -.
PDBsum; 3BPL; -.
PDBsum; 3QAZ; -.
PDBsum; 3QB7; -.
PDBsum; 4GS7; -.
PDBsum; 5M5E; -.
PDBsum; 6OEL; -.
SMR; P31785; -.
BioGrid; 109776; 24.
CORUM; P31785; -.
DIP; DIP-173N; -.
IntAct; P31785; 19.
STRING; 9606.ENSP00000363318; -.
ChEMBL; CHEMBL2364167; -.
DrugBank; DB00041; Aldesleukin.
DrugBank; DB00004; Denileukin diftitox.
DrugBank; DB05943; Resatorvid.
DrugCentral; P31785; -.
GuidetoPHARMACOLOGY; 2303; -.
iPTMnet; P31785; -.
PhosphoSitePlus; P31785; -.
BioMuta; IL2RG; -.
DMDM; 400048; -.
EPD; P31785; -.
jPOST; P31785; -.
MassIVE; P31785; -.
MaxQB; P31785; -.
PaxDb; P31785; -.
PeptideAtlas; P31785; -.
PRIDE; P31785; -.
ProteomicsDB; 54802; -. [P31785-1]
ProteomicsDB; 62802; -.
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; -.
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; -.
InParanoid; P31785; -.
KO; K05070; -.
OMA; PLPKVQC; -.
OrthoDB; 1270467at2759; -.
PhylomeDB; P31785; -.
TreeFam; TF333657; -.
Reactome; R-HSA-1266695; Interleukin-7 signaling.
Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
Reactome; R-HSA-6785807; Interleukin-4 and Interleukin-13 signaling.
Reactome; R-HSA-8983432; Interleukin-15 signaling.
Reactome; R-HSA-8985947; Interleukin-9 signaling.
Reactome; R-HSA-9020558; Interleukin-2 signaling.
Reactome; R-HSA-9020958; Interleukin-21 signaling.
Reactome; R-HSA-912526; Interleukin receptor SHC signaling.
SignaLink; P31785; -.
SIGNOR; P31785; -.
ChiTaRS; IL2RG; human.
EvolutionaryTrace; P31785; -.
GeneWiki; Common_gamma_chain; -.
GenomeRNAi; 3561; -.
Pharos; P31785; -.
PMAP-CutDB; P31785; -.
PRO; PR:P31785; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000147168; Expressed in 165 organ(s), highest expression level in leukocyte.
ExpressionAtlas; P31785; baseline and differential.
Genevisible; P31785; HS.
GO; GO:0009986; C:cell surface; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005768; C:endosome; TAS:Reactome.
GO; GO:0009897; C:external side of plasma membrane; ISS:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0016020; C:membrane; HDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0043235; C:receptor complex; IBA:GO_Central.
GO; GO:0019955; F:cytokine binding; IBA:GO_Central.
GO; GO:0004896; F:cytokine receptor activity; IBA:GO_Central.
GO; GO:0042010; F:interleukin-15 receptor activity; IDA:UniProtKB.
GO; GO:0019976; F:interleukin-2 binding; ISS:UniProtKB.
GO; GO:0019221; P:cytokine-mediated signaling pathway; TAS:Reactome.
GO; GO:0006955; P:immune response; TAS:ProtInc.
GO; GO:0035723; P:interleukin-15-mediated signaling pathway; IMP:UniProtKB.
GO; GO:0038110; P:interleukin-2-mediated signaling pathway; TAS:Reactome.
GO; GO:0038114; P:interleukin-21-mediated signaling pathway; TAS:Reactome.
GO; GO:0035771; P:interleukin-4-mediated signaling pathway; IEA:GOC.
GO; GO:0038111; P:interleukin-7-mediated signaling pathway; TAS:Reactome.
GO; GO:0038113; P:interleukin-9-mediated signaling pathway; TAS:Reactome.
GO; GO:0000165; P:MAPK cascade; TAS:Reactome.
GO; GO:0050766; P:positive regulation of phagocytosis; IMP:UniProtKB.
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; Cell membrane; 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; dbSNP:rs1057520644).
{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; dbSNP:rs1057521062).
/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 99 101 {ECO:0000244|PDB:4GS7}.
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:5M5E}.
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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Related Genes :
[IL2RG] 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] 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] 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] 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)
[IL2RB IL15RB] Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (Interleukin-15 receptor subunit beta) (p70-75) (p75) (CD antigen CD122)
[Il4r Il4ra] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL4Ralpha/prot) (IL-4-binding protein) (IL4-BP)]
[IL4R IL4RA 582J2.1] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL4Ralpha/prot) (IL-4-binding protein) (IL4-BP)]
[IL13RA1 IL13R IL13RA] Interleukin-13 receptor subunit alpha-1 (IL-13 receptor subunit alpha-1) (IL-13R subunit alpha-1) (IL-13R-alpha-1) (IL-13RA1) (Cancer/testis antigen 19) (CT19) (CD antigen CD213a1)
[Csf2rb Aic2b Csf2rb1 Il3rb1] Cytokine receptor common subunit beta (GM-CSF/IL-3/IL-5 receptor common beta subunit) (CD antigen CD131)
[CSF2RB IL3RB IL5RB] Cytokine receptor common subunit beta (CDw131) (GM-CSF/IL-3/IL-5 receptor common beta subunit) (CD antigen CD131)
[IL31RA CRL3 GPL UNQ6368/PRO21073/PRO21384] Interleukin-31 receptor subunit alpha (IL-31 receptor subunit alpha) (IL-31R subunit alpha) (IL-31R-alpha) (IL-31RA) (Cytokine receptor-like 3) (GLM-R) (hGLM-R) (Gp130-like monocyte receptor) (Gp130-like receptor) (ZcytoR17)
[IL10RB CRFB4 D21S58 D21S66] Interleukin-10 receptor subunit beta (IL-10 receptor subunit beta) (IL-10R subunit beta) (IL-10RB) (Cytokine receptor class-II member 4) (Cytokine receptor family 2 member 4) (CRF2-4) (Interleukin-10 receptor subunit 2) (IL-10R subunit 2) (IL-10R2) (CD antigen CDw210b)
[IL27RA CRL1 TCCR WSX1 UNQ296/PRO336] Interleukin-27 receptor subunit alpha (IL-27 receptor subunit alpha) (IL-27R subunit alpha) (IL-27R-alpha) (IL-27RA) (Cytokine receptor WSX-1) (Cytokine receptor-like 1) (Type I T-cell cytokine receptor) (TCCR) (ZcytoR1)
[IFNLR1 IL28RA LICR2] Interferon lambda receptor 1 (IFN-lambda receptor 1) (IFN-lambda-R1) (Cytokine receptor class-II member 12) (Cytokine receptor family 2 member 12) (CRF2-12) (Interleukin-28 receptor subunit alpha) (IL-28 receptor subunit alpha) (IL-28R-alpha) (IL-28RA) (Likely interleukin or cytokine receptor 2) (LICR2)
[Il6st] Interleukin-6 receptor subunit beta (IL-6 receptor subunit beta) (IL-6R subunit beta) (IL-6R-beta) (IL-6RB) (Interleukin-6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin-M receptor subunit alpha) (CD antigen CD130)
[IL12RB1 IL12R IL12RB] Interleukin-12 receptor subunit beta-1 (IL-12 receptor subunit beta-1) (IL-12R subunit beta-1) (IL-12R-beta-1) (IL-12RB1) (IL-12 receptor beta component) (CD antigen CD212)
[Il2rb] Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (p70-75) (CD antigen CD122)
[Il27ra Tccr Wsx1] Interleukin-27 receptor subunit alpha (IL-27 receptor subunit alpha) (IL-27R subunit alpha) (IL-27R-alpha) (IL-27RA) (Type I T-cell cytokine receptor) (TCCR) (WSX-1)
[Il12rb1 Il12rb] Interleukin-12 receptor subunit beta-1 (IL-12 receptor subunit beta-1) (IL-12R subunit beta-1) (IL-12R-beta-1) (IL-12 receptor beta component) (CD antigen CD212)
[Il4r Il4ra] Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124)
[Il7r] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CD antigen CD127)
[Il12rb2] Interleukin-12 receptor subunit beta-2 (IL-12 receptor subunit beta-2) (IL-12R subunit beta-2) (IL-12R-beta-2) (IL-12RB2)
[IL12RB2] Interleukin-12 receptor subunit beta-2 (IL-12 receptor subunit beta-2) (IL-12R subunit beta-2) (IL-12R-beta-2) (IL-12RB2)
[IL7R] Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)
[Il11ra1 Etl2 Il11ra] Interleukin-11 receptor subunit alpha-1 (IL-11 receptor subunit alpha-1) (IL-11R subunit alpha-1) (IL-11R-alpha-1) (IL-11RA1) (Enhancer trap locus homolog 2) (Etl-2) (Novel cytokine receptor 1) (NR-1) (NR1)
[IL1R1 IL1R IL1RA IL1RT1] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]
[IL18RAP IL1R7] Interleukin-18 receptor accessory protein (IL-18 receptor accessory protein) (IL-18RAcP) (Accessory protein-like) (AcPL) (CD218 antigen-like family member B) (CDw218b) (IL-1R accessory protein-like) (IL-1RAcPL) (Interleukin-1 receptor 7) (IL-1R-7) (IL-1R7) (Interleukin-18 receptor accessory protein-like) (Interleukin-18 receptor beta) (IL-18R-beta) (IL-18Rbeta) (CD antigen CD218b)
[IL18R1 IL1RRP] Interleukin-18 receptor 1 (IL-18R-1) (IL-18R1) (CD218 antigen-like family member A) (CDw218a) (IL1 receptor-related protein) (IL-1Rrp) (IL1R-rp) (Interleukin-18 receptor alpha) (IL-18R-alpha) (IL-18Ralpha) (CD antigen CD218a)
[Il1r1 Il-1r1 Il1ra] Interleukin-1 receptor type 1 (IL-1R-1) (IL-1RT-1) (IL-1RT1) (CD121 antigen-like family member A) (Interleukin-1 receptor alpha) (IL-1R-alpha) (Interleukin-1 receptor type I) (p80) (CD antigen CD121a) [Cleaved into: Interleukin-1 receptor type 1, membrane form (mIL-1R1) (mIL-1RI); Interleukin-1 receptor type 1, soluble form (sIL-1R1) (sIL-1RI)]
[Il2rb] Interleukin-2 receptor subunit beta (IL-2 receptor subunit beta) (IL-2R subunit beta) (IL-2RB) (High affinity IL-2 receptor subunit beta) (p70-75) (CD antigen CD122)

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