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P31785 (IL2RG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 172. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytokine receptor common subunit gamma
Alternative name(s):
Interleukin-2 receptor subunit gamma
Short name=IL-2 receptor subunit gamma
Short name=IL-2R subunit gamma
Short name=IL-2RG
gammaC
p64
CD_antigen=CD132
Gene names
Name:IL2RG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length369 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Common subunit for the receptors for a variety of interleukins.

Subunit structure

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. Ref.8 Ref.9 Ref.10 Ref.11 Ref.12

Subcellular location

Membrane; Single-pass type I membrane protein.

Domain

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

The box 1 motif is required for JAK interaction and/or activation.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.24 Ref.28

Sequence similarities

Belongs to the type I cytokine receptor family. Type 5 subfamily.

Contains 1 fibronectin type-III domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

IL7P132322EBI-80475,EBI-80516

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P31785-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P31785-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MLKPSLPF → MGMKTPQL
     9-198: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222
Chain23 – 369347Cytokine receptor common subunit gamma
PRO_0000010866

Regions

Topological domain23 – 262240Extracellular Potential
Transmembrane263 – 28321Helical; Potential
Topological domain284 – 36986Cytoplasmic Potential
Domain156 – 25398Fibronectin type-III
Motif237 – 2415WSXWS motif
Motif286 – 2949Box 1 motif

Amino acid modifications

Modified residue2921Phosphothreonine Ref.13
Glycosylation241N-linked (GlcNAc...) Potential
Glycosylation711N-linked (GlcNAc...) Ref.15 Ref.16
Glycosylation751N-linked (GlcNAc...) Potential
Glycosylation841N-linked (GlcNAc...) Ref.15 Ref.16
Glycosylation1591N-linked (GlcNAc...) Ref.15 Ref.16
Glycosylation2491N-linked (GlcNAc...) Potential
Disulfide bond62 ↔ 72 Ref.15 Ref.16
Disulfide bond102 ↔ 115 Ref.15 Ref.16
Disulfide bond182 ↔ 231 Ref.15 Ref.16

Natural variations

Alternative sequence1 – 88MLKPSLPF → MGMKTPQL in isoform 2.
VSP_047581
Alternative sequence9 – 198190Missing in isoform 2.
VSP_047582
Natural variant391D → N in XSCID. Ref.20
VAR_002668
Natural variant441T → S.
Corresponds to variant rs7885041 [ dbSNP | Ensembl ].
VAR_059301
Natural variant621C → G in XSCID.
VAR_002669
Natural variant681E → G in XSCID.
VAR_002670
Natural variant681E → K in XSCID. Ref.18
VAR_002671
Natural variant841N → K in XSCID.
VAR_002672
Natural variant891Y → C in XSCID.
VAR_002673
Natural variant1051Y → C in XSCID.
VAR_002674
Natural variant1091E → K. Ref.5
Corresponds to variant rs17875899 [ dbSNP | Ensembl ].
VAR_020611
Natural variant1141G → D in XSCID. Ref.3
VAR_002675
Natural variant1151C → F in XSCID. Ref.17
VAR_002676
Natural variant1151C → R in XSCID; atypical. Ref.25
VAR_002677
Natural variant1231H → P in XSCID.
VAR_002678
Natural variant1251Y → N in XSCID.
VAR_002679
Natural variant1441Q → P in XSCID.
VAR_002680
Natural variant1531I → N in XSCID. Ref.3
VAR_002681
Natural variant1561A → V in XSCID.
VAR_002682
Natural variant1621L → H in XSCID. Ref.19
VAR_002683
Natural variant1721L → P in XSCID.
VAR_002684
Natural variant1721L → Q in XSCID.
VAR_002685
Natural variant1821C → R in XSCID.
VAR_002686
Natural variant1831L → S in XSCID. Ref.22
VAR_002687
Natural variant2221R → C in XCID. Ref.28
VAR_002688
Natural variant2241R → W in XSCID. Ref.27
VAR_002689
Natural variant2261R → C in XSCID. Ref.21
VAR_002690
Natural variant2261R → H in XSCID. Ref.21
VAR_002691
Natural variant2271F → C in XSCID.
VAR_002692
Natural variant2301L → P in XSCID.
VAR_002693
Natural variant2311C → Y in XSCID.
VAR_002694
Natural variant2321G → R in XSCID.
VAR_002695
Natural variant2371W → WQHW in XSCID.
VAR_002696
Natural variant2401W → C in XSCID. Ref.17
VAR_002697
Natural variant2411S → I in XSCID. Ref.17
VAR_002698
Natural variant2701M → R in XSCID.
VAR_002699
Natural variant2851R → Q in XSCID. Ref.26
VAR_002701
Natural variant2931L → Q in XCID. Ref.24
VAR_002702

Secondary structure

............................................... 369
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 1, 1993. Version 1.
Checksum: 3B6215246D610215

FASTA36942,287
        10         20         30         40         50         60 
MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL SVSTLPLPEV 

        70         80         90        100        110        120 
QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ KCSHYLFSEE ITSGCQLQKK 

       130        140        150        160        170        180 
EIHLYQTFVV QLQDPREPRR QATQMLKLQN LVIPWAPENL TLHKLSESQL ELNWNNRFLN 

       190        200        210        220        230        240 
HCLEHLVQYR TDWDHSWTEQ SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW 

       250        260        270        280        290        300 
SHPIHWGSNT SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV 

       310        320        330        340        350        360 
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP CNQHSPYWAP 


PCYTLKPET 

« Hide

Isoform 2 [UniParc].

Checksum: 4A3D790462553D0A
Show »

FASTA17920,088

References

« Hide 'large scale' references
[1]"Cloning of the gamma chain of the human IL-2 receptor."
Takeshita T., Asao H., Ohtani K., Ishii N., Kumaki S., Tanaka N., Munakata H., Nakamura M., Sugamura K.
Science 257:379-382(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
[2]"Characterization of the human interleukin-2 receptor gamma chain gene."
Noguchi M., Adelstein S., Cao X., Leonard W.J.
J. Biol. Chem. 268:13601-13608(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Liver.
[3]"The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1."
Puck J.M., Deschenes S.M., Porter J.C., Dutra A.S., Brown C.J., Willard H., Henthorn P.S.
Hum. Mol. Genet. 2:1099-1104(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS XSCID ASP-114 AND ASN-153.
[4]"IL2RG mRNA, nirs splice variant 2."
Hayashi A., Sameshima E., Tabata Y., Iida K., Mitsuyama M., Kanai S., Furuya T., Saito T.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[5]SeattleSNPs variation discovery resource
Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LYS-109.
[6]"The DNA sequence of the human X chromosome."
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. expand/collapse author list , 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.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: B-cell.
[8]"Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4."
Kondo M., Takeshita T., Ishii N., Nakamura M., Watanabe S., Arai K., Sugamura K.
Science 262:1874-1877(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION AS A IL4R SUBUNIT.
[9]"Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor."
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.
Science 262:1880-1883(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION AS A IL4R SUBUNIT.
[10]"Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor."
Noguchi M., Nakamura Y., Russell S.M., Ziegler S.F., Tsang M., Cao X., Leonard W.J.
Science 262:1877-1880(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION AS A IL7R SUBUNIT.
[11]"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."
Mulloy J.C., Crownley R.W., Fullen J., Leonard W.J., Franchini G.
J. Virol. 70:3599-3605(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HTLV-1 ACCESSORY PROTEIN P12I.
[12]"IL-2 receptor signaling through the Shb adapter protein in T and NK cells."
Lindholm C.K.
Biochem. Biophys. Res. Commun. 296:929-936(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SHB.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-292, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"The interleukin-2 and interleukin-4 receptors studied by molecular modelling."
Bamborough P., Hedgecock C.J., Richards W.G.
Structure 2:839-851(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: 3D-STRUCTURE MODELING OF 57-248.
[15]"Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors."
Wang X., Rickert M., Garcia K.C.
Science 310:1159-1163(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 56-254 IN COMPLEX WITH IL2; IL2RA AND IL2RB, DISULFIDE BONDS, GLYCOSYLATION AT ASN-71; ASN-84 AND ASN-159.
[16]"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.
Proc. Natl. Acad. Sci. U.S.A. 103:2788-2793(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 23-255 IN COMPLEX WITH IL2; IL2RA AND IL2RB, DISULFIDE BONDS, GLYCOSYLATION AT ASN-71; ASN-84 AND ASN-159.
[17]"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."
Disanto J.P., Dautry-Varsat A., Certain S., Fischer A., de Saint Basile G.
Eur. J. Immunol. 24:475-479(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XSCID PHE-115; CYS-240 AND ILE-241.
[18]"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."
Markiewicz S., Subtil A., Dautry-Varsat A., Fischer A., de Saint Basile G.
Genomics 21:291-293(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID LYS-68.
[19]"Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency."
Ishii N., Asao H., Kimura Y., Takeshita T., Nakamura M., Tsuchiya S., Konno T., Maeda M., Uchiyama T., Sugamura K.
J. Immunol. 153:1310-1317(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID HIS-162.
[20]"Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells."
Disanto J.P., Rieux-Laucat F., Dautry-Varsat A., Fischer A., de Saint Basile G.
Proc. Natl. Acad. Sci. U.S.A. 91:9466-9470(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID ASN-39.
[21]"Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency."
Pepper A.E., Buckley R.H., Small T.N., Puck J.M.
Am. J. Hum. Genet. 57:564-571(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XSCID CYS-226 AND HIS-226.
[22]"Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis."
Clark P.A., Lester T., Genet S., Jones A.M., Hendriks R., Levinsky R.L., Kinnon C.
Hum. Genet. 96:427-432(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID SER-183.
[23]"Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency."
Puck J.M., Pepper A.E., Bedard P.-M., Laframboise R.
J. Clin. Invest. 95:895-899(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID GLN-HIS-TRP-237 INS.
[24]"Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency."
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.
J. Clin. Invest. 95:1169-1173(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XCID GLN-293.
[25]"Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells."
Stephan V., Wahn V., Le Deist F., Dirksen U., Broeker B., Mueller-Fleckenstein I., Horneff G., Schroten H., Fischer A., de Saint Basile G.
N. Engl. J. Med. 335:1563-1567(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID ARG-115.
[26]"B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation."
Jones A.M., Clark P.A., Katz F., Genet S., McMahon C., Alterman L., Cant A., Kinnon C.
Hum. Genet. 99:677-680(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID GLN-285.
[27]"Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred."
O'Marcaigh A.S., Puck J.M., Pepper A.E., De Santes K., Cowan M.J.
J. Clin. Immunol. 17:29-33(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XSCID TRP-224.
[28]"An interleukin-2 receptor gamma chain mutation with normal thymus morphology."
Sharfe N., Shahar M., Roifman C.M.
J. Clin. Invest. 100:3036-3043(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XCID CYS-222.
+Additional computationally mapped references.

Web resources

IL2RGbase

X-linked SCID mutation database

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D11086 mRNA. Translation: BAA01857.1.
L12183 expand/collapse EMBL AC list , L12178, L12176, L12177, L12179, L12180, L12181, L12182 Genomic DNA. Translation: AAA59145.1.
L19546 Genomic DNA. Translation: AAC37524.1.
AB102794 mRNA. Translation: BAD89385.1.
AY692262 Genomic DNA. Translation: AAT85803.1.
AL590764 Genomic DNA. No translation available.
BC014972 mRNA. Translation: AAH14972.1.
CCDSCCDS14406.1. [P31785-1]
PIRA42565.
RefSeqNP_000197.1. NM_000206.2. [P31785-1]
UniGeneHs.84.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1ILLmodel-G57-248[»]
1ILMmodel-G57-248[»]
1ILNmodel-G57-248[»]
1ITEmodel-B23-254[»]
2B5IX-ray2.30C56-254[»]
2ERJX-ray3.00C/G23-255[»]
3BPLX-ray2.93C56-254[»]
3QAZX-ray3.80C/F/I/L/O/R/U/X/a/d/g/j56-254[»]
3QB7X-ray3.24C/D55-254[»]
4GS7X-ray2.35C55-254[»]
ProteinModelPortalP31785.
SMRP31785. Positions 56-249.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109776. 11 interactions.
DIPDIP-173N.
IntActP31785. 8 interactions.
MINTMINT-1524852.
STRING9606.ENSP00000276110.

Chemistry

BindingDBP31785.
ChEMBLCHEMBL2364167.
DrugBankDB00041. Aldesleukin.
DB00004. Denileukin diftitox.

PTM databases

PhosphoSiteP31785.

Polymorphism databases

DMDM400048.

Proteomic databases

MaxQBP31785.
PaxDbP31785.
PRIDEP31785.

Protocols and materials databases

DNASU3561.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374202; ENSP00000363318; ENSG00000147168. [P31785-1]
ENST00000456850; ENSP00000388967; ENSG00000147168. [P31785-2]
GeneID3561.
KEGGhsa:3561.
UCSCuc004dyw.2. human. [P31785-1]

Organism-specific databases

CTD3561.
GeneCardsGC0XM070327.
GeneReviewsIL2RG.
HGNCHGNC:6010. IL2RG.
HPAHPA046641.
MIM300400. phenotype.
308380. gene.
312863. phenotype.
neXtProtNX_P31785.
Orphanet39041. Omenn syndrome.
276. T-B+ severe combined immunodeficiency due to gamma chain deficiency.
PharmGKBPA196.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43995.
HOGENOMHOG000276891.
HOVERGENHBG052111.
InParanoidP31785.
KOK05070.
OMADHSWTEQ.
OrthoDBEOG7H4DV0.
PhylomeDBP31785.
TreeFamTF333657.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.
SignaLinkP31785.

Gene expression databases

ArrayExpressP31785.
BgeeP31785.
CleanExHS_IL2RG.
GenevestigatorP31785.

Family and domain databases

Gene3D2.60.40.10. 2 hits.
InterProIPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
IPR015321. IL-6_rcpt_alpha-bd.
[Graphical view]
PfamPF00041. fn3. 1 hit.
PF09240. IL6Ra-bind. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIL2RG. human.
EvolutionaryTraceP31785.
GeneWikiCommon_gamma_chain.
GenomeRNAi3561.
NextBio13908.
PMAP-CutDBP31785.
PROP31785.
SOURCESearch...

Entry information

Entry nameIL2RG_HUMAN
AccessionPrimary (citable) accession number: P31785
Secondary accession number(s): Q5FC12
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: July 9, 2014
This is version 172 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries