What is the IL2RG gene?
The IL2RG gene provides instructions for making a protein called the common gamma chain. This protein is a component of several different receptors that are involved in immune system function.
Where is the IL2RG gene?
Cytokine receptor common subunit gamma also known as interleukin-2 receptor subunit gamma or IL-2RG is a protein that in humans is encoded by the IL2RG gene. The human IL2RG gene is located on the long (q) arm of the X chromosome at position 13.1, from base pair 70,110,279 to base pair 70,114,423.
What does IL2RG stand for?
IL2RG (Interleukin 2 Receptor Subunit Gamma) is a Protein Coding gene. Diseases associated with IL2RG include Severe Combined Immunodeficiency, X-Linked and Combined Immunodeficiency, X-Linked.
Which cytokines are affected by CD132 mutation?
Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B+T−NK− X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15.
How do cytokines function?
Cytokines are a group of proteins made by the immune system. Your immune cells use cytokines to communicate (acting as chemical messengers). Cytokines released from one cell affect the actions of other cells by binding to receptors on their surface.
What are the main biological functions of cytokines?
Cytokines control the immune system by regulating the proliferation, differentiation and function of immune cells. They activate their target cells through binding to specific receptors, which either are transmembrane proteins or attached to the cell-surface via a GPI-anchor.
Why does CD132 mutation cause a lack of T cells?
Mutations in CD132 abolish the function in each of these cytokine receptors, resulting in the absence or diminished numbers of T and NK cells, while B-cell development is normal.
What does the IL2RG gene do?
The IL2RG gene encodes the common gamma chain which is a subunit for several receptors that are important for lymphocyte development and function. Upon ligand binding to the IL2 receptor, the gamma subunit interacts with the JAK3 tyrosine kinase to transduce the signal ( PMID: 26235889).
What does ilil2rg stand for?
IL2RG interleukin 2 receptor subunit gamma [ (human)] Summary. The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain.
Is the gamma chain an indispensable component of the functional IL2 receptor?
Takeshita et al. (1992) concluded that the gamma chain is an indispensable component of the functional IL2 receptor. The gamma subunit of the IL2 receptor is a subunit also of the IL4 receptor and of the IL7 receptor, i.e., it is a shared or common component of at least 3 cytokine receptors.
Does IL2RG exist in nonlymphoid cells?
No IL2RG mRNA transcripts were detected in human nonlymphoid cells, such as promonocytes, epithelial cells, or hepatocytes. Noguchi et al. (1993) found that the IL2RG protein, like the IL2RB protein, contains 2 pairs of conserved cysteines typical of cytokine receptor superfamily proteins.
