CD132; cytokine receptor common gamma chain; gamma-C; interleukin-2 receptor gamma chain; IL-2R gamma chain; p64 (IL2RG)
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Function
- subunit common to
- interacts with SHB upon interleukin stimulation.
- 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
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P31785.html
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/1631559
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3561
- OMIM: https://mirror.omim.org/entry/300400
- OMIM: https://mirror.omim.org/entry/308380
- OMIM: https://mirror.omim.org/entry/312863
- UniProt: http://www.uniprot.org/uniprot/P31785.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3561