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P31785

- IL2RG_HUMAN

UniProt

P31785 - IL2RG_HUMAN

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Protein

Cytokine receptor common subunit gamma

Gene

IL2RG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Common subunit for the receptors for a variety of interleukins.

GO - Molecular functioni

  1. cytokine receptor activity Source: InterPro
  2. interleukin-2 binding Source: UniProtKB

GO - Biological processi

  1. immune response Source: ProtInc
  2. interleukin-2-mediated signaling pathway Source: GOC
  3. interleukin-4-mediated signaling pathway Source: GOC
  4. interleukin-7-mediated signaling pathway Source: GOC
  5. signal transduction Source: ProtInc
  6. viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

ReactomeiREACT_115529. Interleukin-7 signaling.
REACT_1695. GPVI-mediated activation cascade.
REACT_19290. G beta:gamma signalling through PI3Kgamma.
REACT_23891. Interleukin receptor SHC signaling.
REACT_27283. Interleukin-2 signaling.
SignaLinkiP31785.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:IL2RG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:6010. IL2RG.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 262240ExtracellularSequence AnalysisAdd
BLAST
Transmembranei263 – 28321HelicalSequence AnalysisAdd
BLAST
Topological domaini284 – 36986CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. external side of plasma membrane Source: UniProtKB
  2. integral component of plasma membrane Source: ProtInc
  3. membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391D → N in XSCID. 1 Publication
VAR_002668
Natural varianti62 – 621C → G in XSCID.
VAR_002669
Natural varianti68 – 681E → G in XSCID.
VAR_002670
Natural varianti68 – 681E → K in XSCID. 1 Publication
VAR_002671
Natural varianti84 – 841N → K in XSCID.
VAR_002672
Natural varianti89 – 891Y → C in XSCID.
VAR_002673
Natural varianti105 – 1051Y → C in XSCID.
VAR_002674
Natural varianti114 – 1141G → D in XSCID. 1 Publication
VAR_002675
Natural varianti115 – 1151C → F in XSCID. 1 Publication
VAR_002676
Natural varianti115 – 1151C → R in XSCID; atypical. 1 Publication
VAR_002677
Natural varianti123 – 1231H → P in XSCID.
VAR_002678
Natural varianti125 – 1251Y → N in XSCID.
VAR_002679
Natural varianti144 – 1441Q → P in XSCID.
VAR_002680
Natural varianti153 – 1531I → N in XSCID. 1 Publication
VAR_002681
Natural varianti156 – 1561A → V in XSCID.
VAR_002682
Natural varianti162 – 1621L → H in XSCID. 1 Publication
VAR_002683
Natural varianti172 – 1721L → P in XSCID.
VAR_002684
Natural varianti172 – 1721L → Q in XSCID.
VAR_002685
Natural varianti182 – 1821C → R in XSCID.
VAR_002686
Natural varianti183 – 1831L → S in XSCID. 1 Publication
VAR_002687
Natural varianti224 – 2241R → W in XSCID. 1 Publication
VAR_002689
Natural varianti226 – 2261R → C in XSCID. 1 Publication
VAR_002690
Natural varianti226 – 2261R → H in XSCID. 1 Publication
VAR_002691
Natural varianti227 – 2271F → C in XSCID.
VAR_002692
Natural varianti230 – 2301L → P in XSCID.
VAR_002693
Natural varianti231 – 2311C → Y in XSCID.
VAR_002694
Natural varianti232 – 2321G → R in XSCID.
VAR_002695
Natural varianti237 – 2371W → WQHW in XSCID. 1 Publication
VAR_002696
Natural varianti240 – 2401W → C in XSCID. 1 Publication
VAR_002697
Natural varianti241 – 2411S → I in XSCID. 1 Publication
VAR_002698
Natural varianti270 – 2701M → R in XSCID.
VAR_002699
Natural varianti285 – 2851R → Q in XSCID. 1 Publication
VAR_002701
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221R → C in XCID. 1 Publication
VAR_002688
Natural varianti293 – 2931L → Q in XCID. 1 Publication
VAR_002702

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

MIMi300400. phenotype.
312863. phenotype.
Orphaneti39041. Omenn syndrome.
276. T-B+ severe combined immunodeficiency due to gamma chain deficiency.
PharmGKBiPA196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Add
BLAST
Chaini23 – 369347Cytokine receptor common subunit gammaPRO_0000010866Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi24 – 241N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi62 ↔ 72
Glycosylationi71 – 711N-linked (GlcNAc...)2 Publications
Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis
Glycosylationi84 – 841N-linked (GlcNAc...)2 Publications
Disulfide bondi102 ↔ 115
Glycosylationi159 – 1591N-linked (GlcNAc...)2 Publications
Disulfide bondi182 ↔ 231
Glycosylationi249 – 2491N-linked (GlcNAc...)Sequence Analysis
Modified residuei292 – 2921Phosphothreonine1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP31785.
PaxDbiP31785.
PRIDEiP31785.

PTM databases

PhosphoSiteiP31785.

Miscellaneous databases

PMAP-CutDBP31785.

Expressioni

Gene expression databases

BgeeiP31785.
CleanExiHS_IL2RG.
ExpressionAtlasiP31785. baseline and differential.
GenevestigatoriP31785.

Organism-specific databases

HPAiHPA046641.

Interactioni

Subunit structurei

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.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
IL7P132322EBI-80475,EBI-80516

Protein-protein interaction databases

BioGridi109776. 15 interactions.
DIPiDIP-173N.
IntActiP31785. 9 interactions.
MINTiMINT-1524852.
STRINGi9606.ENSP00000276110.

Structurei

Secondary structure

1
369
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi61 – 655Combined sources
Turni66 – 683Combined sources
Beta strandi69 – 735Combined sources
Beta strandi78 – 814Combined sources
Beta strandi86 – 916Combined sources
Beta strandi94 – 963Combined sources
Beta strandi103 – 1086Combined sources
Beta strandi111 – 1188Combined sources
Helixi119 – 1213Combined sources
Beta strandi124 – 1263Combined sources
Beta strandi128 – 1336Combined sources
Beta strandi135 – 1373Combined sources
Beta strandi141 – 1466Combined sources
Helixi148 – 1503Combined sources
Beta strandi151 – 1533Combined sources
Beta strandi158 – 1669Combined sources
Beta strandi169 – 1757Combined sources
Helixi180 – 1823Combined sources
Beta strandi184 – 1918Combined sources
Beta strandi198 – 2025Combined sources
Beta strandi207 – 2104Combined sources
Beta strandi215 – 2173Combined sources
Beta strandi219 – 2268Combined sources
Beta strandi229 – 2313Combined sources
Beta strandi244 – 2463Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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[»]
ProteinModelPortaliP31785.
SMRiP31785. Positions 56-249.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP31785.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini156 – 25398Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi237 – 2415WSXWS motif
Motifi286 – 2949Box 1 motif

Domaini

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.

Sequence similaritiesi

Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43995.
GeneTreeiENSGT00510000048979.
HOGENOMiHOG000276891.
HOVERGENiHBG052111.
InParanoidiP31785.
KOiK05070.
OMAiDHSWTEQ.
OrthoDBiEOG7H4DV0.
PhylomeDBiP31785.
TreeFamiTF333657.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
IPR015321. IL-6_rcpt_alpha-bd.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
PF09240. IL6Ra-bind. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P31785-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL
60 70 80 90 100
SVSTLPLPEV QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ
110 120 130 140 150
KCSHYLFSEE ITSGCQLQKK EIHLYQTFVV QLQDPREPRR QATQMLKLQN
160 170 180 190 200
LVIPWAPENL TLHKLSESQL ELNWNNRFLN HCLEHLVQYR TDWDHSWTEQ
210 220 230 240 250
SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW SHPIHWGSNT
260 270 280 290 300
SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV
310 320 330 340 350
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP
360
CNQHSPYWAP PCYTLKPET
Length:369
Mass (Da):42,287
Last modified:July 1, 1993 - v1
Checksum:i3B6215246D610215
GO
Isoform 2 (identifier: P31785-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:179
Mass (Da):20,088
Checksum:i4A3D790462553D0A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391D → N in XSCID. 1 Publication
VAR_002668
Natural varianti44 – 441T → S.
Corresponds to variant rs7885041 [ dbSNP | Ensembl ].
VAR_059301
Natural varianti62 – 621C → G in XSCID.
VAR_002669
Natural varianti68 – 681E → G in XSCID.
VAR_002670
Natural varianti68 – 681E → K in XSCID. 1 Publication
VAR_002671
Natural varianti84 – 841N → K in XSCID.
VAR_002672
Natural varianti89 – 891Y → C in XSCID.
VAR_002673
Natural varianti105 – 1051Y → C in XSCID.
VAR_002674
Natural varianti109 – 1091E → K.1 Publication
Corresponds to variant rs17875899 [ dbSNP | Ensembl ].
VAR_020611
Natural varianti114 – 1141G → D in XSCID. 1 Publication
VAR_002675
Natural varianti115 – 1151C → F in XSCID. 1 Publication
VAR_002676
Natural varianti115 – 1151C → R in XSCID; atypical. 1 Publication
VAR_002677
Natural varianti123 – 1231H → P in XSCID.
VAR_002678
Natural varianti125 – 1251Y → N in XSCID.
VAR_002679
Natural varianti144 – 1441Q → P in XSCID.
VAR_002680
Natural varianti153 – 1531I → N in XSCID. 1 Publication
VAR_002681
Natural varianti156 – 1561A → V in XSCID.
VAR_002682
Natural varianti162 – 1621L → H in XSCID. 1 Publication
VAR_002683
Natural varianti172 – 1721L → P in XSCID.
VAR_002684
Natural varianti172 – 1721L → Q in XSCID.
VAR_002685
Natural varianti182 – 1821C → R in XSCID.
VAR_002686
Natural varianti183 – 1831L → S in XSCID. 1 Publication
VAR_002687
Natural varianti222 – 2221R → C in XCID. 1 Publication
VAR_002688
Natural varianti224 – 2241R → W in XSCID. 1 Publication
VAR_002689
Natural varianti226 – 2261R → C in XSCID. 1 Publication
VAR_002690
Natural varianti226 – 2261R → H in XSCID. 1 Publication
VAR_002691
Natural varianti227 – 2271F → C in XSCID.
VAR_002692
Natural varianti230 – 2301L → P in XSCID.
VAR_002693
Natural varianti231 – 2311C → Y in XSCID.
VAR_002694
Natural varianti232 – 2321G → R in XSCID.
VAR_002695
Natural varianti237 – 2371W → WQHW in XSCID. 1 Publication
VAR_002696
Natural varianti240 – 2401W → C in XSCID. 1 Publication
VAR_002697
Natural varianti241 – 2411S → I in XSCID. 1 Publication
VAR_002698
Natural varianti270 – 2701M → R in XSCID.
VAR_002699
Natural varianti285 – 2851R → Q in XSCID. 1 Publication
VAR_002701
Natural varianti293 – 2931L → Q in XCID. 1 Publication
VAR_002702

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 88MLKPSLPF → MGMKTPQL in isoform 2. 1 PublicationVSP_047581
Alternative sequencei9 – 198190Missing in isoform 2. 1 PublicationVSP_047582Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D11086 mRNA. Translation: BAA01857.1.
L12183
, 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.
CCDSiCCDS14406.1. [P31785-1]
PIRiA42565.
RefSeqiNP_000197.1. NM_000206.2. [P31785-1]
UniGeneiHs.84.

Genome annotation databases

EnsembliENST00000374202; ENSP00000363318; ENSG00000147168. [P31785-1]
ENST00000456850; ENSP00000388967; ENSG00000147168. [P31785-2]
GeneIDi3561.
KEGGihsa:3561.
UCSCiuc004dyw.2. human. [P31785-1]

Polymorphism databases

DMDMi400048.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

IL2RGbase

X-linked SCID mutation database

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D11086 mRNA. Translation: BAA01857.1 .
L12183
, 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 .
CCDSi CCDS14406.1. [P31785-1 ]
PIRi A42565.
RefSeqi NP_000197.1. NM_000206.2. [P31785-1 ]
UniGenei Hs.84.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1ILL model - G 57-248 [» ]
1ILM model - G 57-248 [» ]
1ILN model - G 57-248 [» ]
1ITE model - B 23-254 [» ]
2B5I X-ray 2.30 C 56-254 [» ]
2ERJ X-ray 3.00 C/G 23-255 [» ]
3BPL X-ray 2.93 C 56-254 [» ]
3QAZ X-ray 3.80 C/F/I/L/O/R/U/X/a/d/g/j 56-254 [» ]
3QB7 X-ray 3.24 C/D 55-254 [» ]
4GS7 X-ray 2.35 C 55-254 [» ]
ProteinModelPortali P31785.
SMRi P31785. Positions 56-249.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109776. 15 interactions.
DIPi DIP-173N.
IntActi P31785. 9 interactions.
MINTi MINT-1524852.
STRINGi 9606.ENSP00000276110.

Chemistry

ChEMBLi CHEMBL2364167.
DrugBanki DB00041. Aldesleukin.
DB00004. Denileukin diftitox.

PTM databases

PhosphoSitei P31785.

Polymorphism databases

DMDMi 400048.

Proteomic databases

MaxQBi P31785.
PaxDbi P31785.
PRIDEi P31785.

Protocols and materials databases

DNASUi 3561.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374202 ; ENSP00000363318 ; ENSG00000147168 . [P31785-1 ]
ENST00000456850 ; ENSP00000388967 ; ENSG00000147168 . [P31785-2 ]
GeneIDi 3561.
KEGGi hsa:3561.
UCSCi uc004dyw.2. human. [P31785-1 ]

Organism-specific databases

CTDi 3561.
GeneCardsi GC0XM070327.
GeneReviewsi IL2RG.
HGNCi HGNC:6010. IL2RG.
HPAi HPA046641.
MIMi 300400. phenotype.
308380. gene.
312863. phenotype.
neXtProti NX_P31785.
Orphaneti 39041. Omenn syndrome.
276. T-B+ severe combined immunodeficiency due to gamma chain deficiency.
PharmGKBi PA196.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43995.
GeneTreei ENSGT00510000048979.
HOGENOMi HOG000276891.
HOVERGENi HBG052111.
InParanoidi P31785.
KOi K05070.
OMAi DHSWTEQ.
OrthoDBi EOG7H4DV0.
PhylomeDBi P31785.
TreeFami TF333657.

Enzyme and pathway databases

Reactomei REACT_115529. Interleukin-7 signaling.
REACT_1695. GPVI-mediated activation cascade.
REACT_19290. G beta:gamma signalling through PI3Kgamma.
REACT_23891. Interleukin receptor SHC signaling.
REACT_27283. Interleukin-2 signaling.
SignaLinki P31785.

Miscellaneous databases

ChiTaRSi IL2RG. human.
EvolutionaryTracei P31785.
GeneWikii Common_gamma_chain.
GenomeRNAii 3561.
NextBioi 13908.
PMAP-CutDB P31785.
PROi P31785.
SOURCEi Search...

Gene expression databases

Bgeei P31785.
CleanExi HS_IL2RG.
ExpressionAtlasi P31785. baseline and differential.
Genevestigatori P31785.

Family and domain databases

Gene3Di 2.60.40.10. 2 hits.
InterProi IPR003961. Fibronectin_type3.
IPR003531. Hempt_rcpt_S_F1_CS.
IPR013783. Ig-like_fold.
IPR015321. IL-6_rcpt_alpha-bd.
[Graphical view ]
Pfami PF00041. fn3. 1 hit.
PF09240. IL6Ra-bind. 1 hit.
[Graphical view ]
SMARTi SM00060. FN3. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 1 hit.
PS01355. HEMATOPO_REC_S_F1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.

Entry informationi

Entry nameiIL2RG_HUMAN
AccessioniPrimary (citable) accession number: P31785
Secondary accession number(s): Q5FC12
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 26, 2014
This is version 176 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

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