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IL2RG Gene

Last updated on: 18.04.2022

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DefinitionThis section has been translated automatically.

IL2RG (Interleukin 2 Receptor Subunit Gamma; CD132) is a protein-coding gene located on chromosome Xq13.1.

General informationThis section has been translated automatically.

The protein encoded by this gene is an important (common) subunit of many interleukin receptors, including those of interleukin-2, -4, -7, -9,-15, and interleukin-21. The cytokines of the interleukin family that express this receptor subunit collectively regulate the development, proliferation, survival, and differentiation of immune cells.

The interleukin-2 receptor subunit gamma is a glycoprotein and belongs to the type I cytokine receptor family found on most lymphocytes (white blood cells). Functions associated with this gene include cytokine receptor activities and interleukin-2 binding.

Functionally, the glycoprotein in conjunction with IL15RA is involved in the stimulation of neutrophil phagocytosis by IL-15.Furthermore, the receptor also controls the growth and maturation of lymphocyte subtypes: T cells, B cells and natural killer cells.

Mutations in this gene cause dysfunction of the interleukin receptors in question and thus the interleukin functions in question. Mutations of this interleukin receptor component are associated with the following diseases:

as well as

  • X-linked combined immunodeficiency (XCID), less severe.

LiteratureThis section has been translated automatically.

  1. Buckley RH et al (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediat. 130: 378-387.
  2. Gitlin D et al. (1963) The thymus and other lymphoid tissues in congenital agammaglobulinemia. I. Thymic alymphoplasia and lymphocytic hypoplasia and their relation to infection. Pediatrics 32: 517-530.

  3. Leonard WJ et al. (2019) The gamma Family of Cytokines: Basic Biology to Therapeutic Ramifications. https://doi.org/10.1016/j.immuni.2019.03.028.

  4. Nezelof C (1992). Thymic pathology in primary and secondary immunodeficiencies. Histopathology 21: 499-511.
  5. Rosen FS (2002) Successful gene therapy for severe combined immunodeficiency. (Editorial) New Eng J Med 346: 1241-1243.
  6. Rosen FS et al (1966) Further observations on the Swiss type of agammaglobulinemia (alymphocytosis): the effect of syngeneic bone-marrow cells. New Eng J Med 274: 18-21.
  7. Rosen FS et al (1966) The gamma globulins. III. the antibody deficiency syndromes. New Eng J Med 275: 709-715.

Last updated on: 18.04.2022