IL2RG Gene

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

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:

• X-linked severe combined immunodeficiency (XSCID)

as well as

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

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