|IL2RG_HUMAN » Cytokine receptor common subunit gamma » Interleukin-2 receptor subunit gamma;IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; gammaC;p64;|
|Hydrophobic Thickness||37.2 ± 1.4 Å|
|Tilt Angle||6 ± 3°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||255-283 (255-287)|
HTLV-I infection (KEGG)
Immune System (Reactome)
Jak-STAT signaling pathway (KEGG)
PI3K-Akt signaling pathway (KEGG)
Primary immunodeficiency (KEGG)
|PDB||3qb7 (C/D=55-254), 3qaz (C/F...=56-254), 2erj (C/G=23-255), 4gs7 (C=55-254), 2b5i (C=56-254), 3bpl (C=56-254)|
|UniProt annotation for IL2RG_HUMAN » Cytokine receptor common subunit gamma|
|FUNCTION: Common subunit for the receptors for a variety of interleukins. 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. Interacts with HTLV-1 accessory protein p12I. 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) OMIM: 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. disease is caused by mutations affecting the gene represented in this entry. DISEASE: X-linked combined immunodeficiency (XCID) OMIM: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. mutations affecting the gene represented in this entry.|
|UniProt features for IL2RG_HUMAN » Cytokine receptor common subunit gamma|
SIGNAL 1 22 |
CHAIN 23 369 Cytokine receptor common subunit gamma.
DOMAIN 154 241 Fibronectin type-III.
MOTIF 237 241 WSXWS motif.
MOTIF 286 294 Box 1 motif.
DISULFID 62 72
DISULFID 102 115
DISULFID 182 231
|Amino Acid Sequence for IL2RG_HUMAN » Cytokine receptor common subunit gamma|
|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|