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CD132; cytokine receptor common gamma chain; gamma-C; interleukin-2 receptor gamma chain; IL-2R gamma chain; p64 (IL2RG)
Function:
1) subunit common to
a) IL-2 receptor
b) IL-4 receptor
c) IL-7 receptor
d) IL-13 receptor (probably)
e) IL-21 receptor
2) interacts with SHB upon interleukin stimulation.
3) interacts with HTLV-1 accessory protein p12I
Structure:
- the WSXWS motif appears to be necessary for proper protein folding, efficient intracellular transport & cell-surface receptor binding
- the box 1 motif is required for JAK interaction &/or activation
- belongs to the type I cytokine receptor family, type 5 subfamily
- contains 1 fibronectin F3 module
Compartment: membrane
Pathology:
- defects in IL2RG are the cause of X-linked severe combined immunodeficiency
Related
IL2 receptor-gamma gene
General
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
glycoprotein
phosphoprotein
protein subunit
Properties
SIZE: entity length = 369 aa
MW = 42 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-22}
N-glycosylation site {N24}
cysteine residue {C62}
MODIFICATION: cysteine residue {C72}
N-glycosylation site {N71}
cysteine residue {C72}
MODIFICATION: cysteine residue {C62}
N-glycosylation site {N75}
N-glycosylation site {N84}
cysteine residue {C102}
MODIFICATION: cysteine residue {C115}
cysteine residue {C115}
MODIFICATION: cysteine residue {C102}
fibronectin type III domain or F3 module {154-241}
MOTIF: N-glycosylation site {N159}
Thr phosphorylation site {T161}
cysteine residue {C182}
MODIFICATION: cysteine residue {C231}
cysteine residue {C231}
MODIFICATION: cysteine residue {C182}
WSXWS motif {237-241}
N-glycosylation site {N249}
transmembrane domain {263-283}
box1 motif
SITE: 286-294
FOR-BINDING-OF: Janus kinase (JAK)
Tyr phosphorylation site {Y325}
Database Correlations
OMIM correlations
MORBIDMAP 308380
UniProt P31785
Entrez Gene 3561
Kegg hsa:3561
References
- UniProt :accession P31785
- IL2RGbase; X-linked SCID mutation database
http://research.nhgri.nih.gov/scid/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=IL2RG
- SeattleSNPs
http://pga.gs.washington.edu/data/il2rg/
- Takeshita T et al
Cloning of the gamma chain of the human IL-2 receptor.
Science. 1992 Jul 17;257(5068):379-82.
PMID: 1631559
Component-of
interleukin-15 receptor