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Gene Review

IL2RG  -  interleukin 2 receptor, gamma

Homo sapiens

Synonyms: CD132, CIDX, Cytokine receptor common subunit gamma, IL-2 receptor subunit gamma, IL-2R subunit gamma, ...
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Disease relevance of IL2RG


High impact information on IL2RG


Chemical compound and disease context of IL2RG


Biological context of IL2RG

  • Mutation detection in the pedigree confirmed that the founder grandmother's somatic cells had only normal IL2RG, and further showed that the SCID-associated X chromosome haplotype was inherited by three daughters, one with a wild type IL2RG gene and two others with the insertional mutation [1].
  • Of 40 IL2RG mutations found in unrelated SCID patients, 6 were point mutations at the CpG dinucleotide at cDNA 690-691, encoding amino acid R226 [14].
  • Human severe combined immunodeficiency (SCID), a syndrome of profoundly impaired cellular and humoral immunity, is most commonly caused by mutations in the X-linked gene for interleukin-2 (IL-2) receptor gamma chain (IL2RG) [14].
  • For mutational analysis of IL2RG in males with SCID, SSCP screening was followed by DNA sequencing [14].
  • Unique point mutations were documented to be specifically associated with the disease and the carrier state in four unrelated affected males and their family members: one in a boy with no detectable IL2RG mRNA, in which the mutation ablated a splice donor site; one causing premature chain termination; and two causing distinct amino acid changes [15].

Anatomical context of IL2RG


Associations of IL2RG with chemical compounds


Physical interactions of IL2RG


Regulatory relationships of IL2RG

  • Involvement of the IL-2 receptor gamma-chain (gammac) in the control by IL-4 of human monocyte and macrophage proinflammatory mediator production [27].
  • In fact, co-treatment of monocytes with IL-2 and IL-4 increased the expression of IL-2R gamma chain above the levels induced by IL-2 alone, whereas it did not significantly affect the expression of IL-2R beta chain [28].
  • Here we used mammalian cells expressing recombinant alpha v beta 3 to show that recombinant alpha EC and gamma C domains expressed in bacteria specifically bind to alpha v beta 3 [26].

Other interactions of IL2RG


Analytical, diagnostic and therapeutic context of IL2RG


  1. 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., Bédard, P.M., Laframboise, R. J. Clin. Invest. (1995) [Pubmed]
  2. Gene therapy: is IL2RG oncogenic in T-cell development? Pike-Overzet, K., de Ridder, D., Weerkamp, F., Baert, M.R., Verstegen, M.M., Brugman, M.H., Howe, S.J., Reinders, M.J., Thrasher, A.J., Wagemaker, G., van Dongen, J.J., Staal, F.J. Nature (2006) [Pubmed]
  3. Functional interleukin 4 receptor and interleukin 2 receptor common gamma-chain on human non-small cell lung cancers: novel targets for immune therapy. Essner, R., Huynh, Y., Nguyen, T., Morton, D.L., Hoon, D.S. J. Thorac. Cardiovasc. Surg. (2000) [Pubmed]
  4. Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras. Tsai, E.J., Malech, H.L., Kirby, M.R., Hsu, A.P., Seidel, N.E., Porada, C.D., Zanjani, E.D., Bodine, D.M., Puck, J.M. Blood (2002) [Pubmed]
  5. Gene therapy: therapeutic gene causing lymphoma. Woods, N.B., Bottero, V., Schmidt, M., von Kalle, C., Verma, I.M. Nature (2006) [Pubmed]
  6. The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID. Sugamura, K., Asao, H., Kondo, M., Tanaka, N., Ishii, N., Ohbo, K., Nakamura, M., Takeshita, T. Annu. Rev. Immunol. (1996) [Pubmed]
  7. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Noguchi, M., Yi, H., Rosenblatt, H.M., Filipovich, A.H., Adelstein, S., Modi, W.S., McBride, O.W., Leonard, W.J. Cell (1993) [Pubmed]
  8. Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Russell, S.M., Keegan, A.D., Harada, N., Nakamura, Y., Noguchi, M., Leland, P., Friedmann, M.C., Miyajima, A., Puri, R.K., Paul, W.E. Science (1993) [Pubmed]
  9. 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 (1993) [Pubmed]
  10. T cell receptor gene trans-rearrangements: chimeric gamma-delta genes in normal lymphoid tissues. Tycko, B., Palmer, J.D., Sklar, J. Science (1989) [Pubmed]
  11. Potent anti-R5 human immunodeficiency virus type 1 effects of a CCR5 antagonist, AK602/ONO4128/GW873140, in a novel human peripheral blood mononuclear cell nonobese diabetic-SCID, interleukin-2 receptor gamma-chain-knocked-out AIDS mouse model. Nakata, H., Maeda, K., Miyakawa, T., Shibayama, S., Matsuo, M., Takaoka, Y., Ito, M., Koyanagi, Y., Mitsuya, H. J. Virol. (2005) [Pubmed]
  12. Adriamycin-inducible proteins associated with drug sensitivity in resistant immunoblastic B lymphoma cells. Chao, C.C., Yam, W.C., Chung, K.C., Ho, Y.S. Mutat. Res. (1995) [Pubmed]
  13. Quantitative analysis of islet glutamic acid decarboxylase p64 autoantibodies in insulin-dependent diabetes mellitus. Bärmeier, H., Ahlmén, J., Landin-Olsson, M., Rajotte, R.V., Sundkvist, G., Warnock, G., Lernmark, A. Autoimmunity (1992) [Pubmed]
  14. 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. (1995) [Pubmed]
  15. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Puck, J.M., Deschênes, S.M., Porter, J.C., Dutra, A.S., Brown, C.J., Willard, H.F., Henthorn, P.S. Hum. Mol. Genet. (1993) [Pubmed]
  16. 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. (1994) [Pubmed]
  17. Human fibroblasts express functional IL-2 receptors formed by the IL-2R alpha- and beta-chain subunits: association of IL-2 binding with secretion of the monocyte chemoattractant protein-1. Gruss, H.J., Scott, C., Rollins, B.J., Brach, M.A., Herrmann, F. J. Immunol. (1996) [Pubmed]
  18. 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. (1994) [Pubmed]
  19. IL-2-induced signal transduction: involvement of tyrosine kinase and IL-2 receptor gamma chain. Sugamura, K., Takeshita, T., Asao, H., Kumaki, S., Ohbo, K., Ohtani, K., Nakamura, M. Lymphokine Res. (1990) [Pubmed]
  20. 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. (1997) [Pubmed]
  21. 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. (1994) [Pubmed]
  22. Characterization of distinct tyrosine-specific protein kinases in B and T lymphocytes. Earp, H.S., Austin, K.S., Gillespie, G.Y., Buessow, S.C., Davies, A.A., Parker, P.J. J. Biol. Chem. (1985) [Pubmed]
  23. Interleukin-15 enhances human neutrophil phagocytosis by a Syk-dependent mechanism: importance of the IL-15Ralpha chain. Ratthé, C., Girard, D. J. Leukoc. Biol. (2004) [Pubmed]
  24. IL-4 receptor complexes containing or lacking the gamma C chain are inhibited by an overlapping set of antagonistic IL-4 mutant proteins. Schnarr, B., Ezernieks, J., Sebald, W., Duschl, A. Int. Immunol. (1997) [Pubmed]
  25. Kinetic analysis of high affinity forms of interleukin (IL)-13 receptors: suppression of IL-13 binding by IL-2 receptor gamma chain. Kuznetsov, V.A., Puri, R.K. Biophys. J. (1999) [Pubmed]
  26. Specific binding of integrin alpha v beta 3 to the fibrinogen gamma and alpha E chain C-terminal domains. Yokoyama, K., Zhang, X.P., Medved, L., Takada, Y. Biochemistry (1999) [Pubmed]
  27. Involvement of the IL-2 receptor gamma-chain (gammac) in the control by IL-4 of human monocyte and macrophage proinflammatory mediator production. Bonder, C.S., Dickensheets, H.L., Finlay-Jones, J.J., Donnelly, R.P., Hart, P.H. J. Immunol. (1998) [Pubmed]
  28. IL-4 inhibits IL-2-induced tumoricidal activity and secretory functions of human monocytes. Modulation of IL-2 binding and IL-2 receptor beta gamma chain expression. Bosco, M.C., Pulkki, K., Rowe, T.K., Zea, A.H., Musso, T., Longo, D.L., Varesio, L., Espinoza-Delgado, I. J. Immunol. (1995) [Pubmed]
  29. Functional analysis of the human interleukin 2 receptor gamma chain gene promoter. Ohbo, K., Takasawa, N., Ishii, N., Tanaka, N., Nakamura, M., Sugamura, K. J. Biol. Chem. (1995) [Pubmed]
  30. Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Wengler, G.S., Giliani, S., Fiorini, M., Mella, P., Mantuano, E., Zanola, A., Pollonini, G., Eibl, M.M., Ugazio, A.G., Notarangelo, L.D., Parolini, O. Br. J. Haematol. (1998) [Pubmed]
  31. Ectopic retroviral expression of LMO2, but not IL2Rgamma, blocks human T-cell development from CD34+ cells: implications for leukemogenesis in gene therapy. Pike-Overzet, K., de Ridder, D., Weerkamp, F., Baert, M.R., Verstegen, M.M., Brugman, M.H., Howe, S.J., Reinders, M.J., Thrasher, A.J., Wagemaker, G., van Dongen, J.J., Staal, F.J. Leukemia (2007) [Pubmed]
  32. Transcript synthesis and surface expression of the interleukin-2 receptor (alpha-, beta-, and gamma-chain) by normal and malignant myeloid cells. Schumann, R.R., Nakarai, T., Gruss, H.J., Brach, M.A., von Arnim, U., Kirschning, C., Karawajew, L., Ludwig, W.D., Renauld, J.C., Ritz, J., Herrmann, F. Blood (1996) [Pubmed]
  33. Inhibitory effects of the Trypanosoma cruzi membrane glycoprotein AGC10 on the expression of IL-2 receptor chains and secretion of cytokines by subpopulations of activated human T lymphocytes. Kierszenbaum, F., de Diego, J.L., Fresno, M., Sztein, M.B. Eur. J. Immunol. (1999) [Pubmed]
  34. Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. Fugmann, S.D., Müller, S., Friedrich, W., Bartram, C.R., Schwarz, K. Hum. Genet. (1998) [Pubmed]
  35. Interleukin-15 triggers the proliferation and cytotoxicity of granular lymphocytes in patients with lymphoproliferative disease of granular lymphocytes. Zambello, R., Facco, M., Trentin, L., Sancetta, R., Tassinari, C., Perin, A., Milani, A., Pizzolo, G., Rodeghiero, F., Agostini, C., Meazza, R., Ferrini, S., Semenzato, G. Blood (1997) [Pubmed]
  36. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Puck, J.M., Pepper, A.E., Henthorn, P.S., Candotti, F., Isakov, J., Whitwam, T., Conley, M.E., Fischer, R.E., Rosenblatt, H.M., Small, T.N., Buckley, R.H. Blood (1997) [Pubmed]
  37. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Puck, J.M., Middelton, L., Pepper, A.E. Hum. Genet. (1997) [Pubmed]
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