IL2RG

IL2RG (interleukin 2 receptor, gamma (severe combined immunodeficiency)) is a human gene that provides instructions for making a protein called the common gamma chain. This protein is located on the surface of immature blood-forming cells in bone marrow. It has one end outside the cell like an antenna and the other end inside to transmit signals to the cell's nucleus. The common gamma chain partners with other proteins to direct blood-forming cells to form lymphocytes (a type of white blood cell). The receptor also directs the growth and maturation of lymphocyte subtypes: T cells, B cells, and natural killer cells. These cells kill viruses, make antibodies, and help regulate the entire immune system.

The 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.

Related conditions

X-linked severe combined immunodeficiency is caused by mutations in the IL2RG gene. More than 200 different mutations in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). Most of these mutations involve changes in one or a few DNA building blocks (nucleotides) in the gene. These changes lead to the production of a nonfunctional version of the common gamma chain or no protein at all. Without the common gamma chain, important chemical signals are not relayed to the nucleus and lymphocytes cannot develop normally. A lack of functional mature lymphocytes disrupts the immune system's ability to protect the body from infection.

References

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Further reading

PBB_Further_reading
citations =
*cite journal | author=Ellery JM, Nicholls PJ |title=Alternate signalling pathways from the interleukin-2 receptor. |journal=Cytokine Growth Factor Rev. |volume=13 |issue= 1 |pages= 27–40 |year= 2002 |pmid= 11750878 |doi=
*cite journal | author=Takeshita T, Asao H, Ohtani K, "et al." |title=Cloning of the gamma chain of the human IL-2 receptor. |journal=Science |volume=257 |issue= 5068 |pages= 379–82 |year= 1992 |pmid= 1631559 |doi=
*cite journal | author=Burton J, Goldman CK, Rao P, "et al." |title=Association of intercellular adhesion molecule 1 with the multichain high-affinity interleukin 2 receptor. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 18 |pages= 7329–33 |year= 1990 |pmid= 1976256 |doi=
*cite journal | author=Oyaizu N, Chirmule N, Kalyanaraman VS, "et al." |title=Human immunodeficiency virus type 1 envelope glycoprotein gp120 produces immune defects in CD4+ T lymphocytes by inhibiting interleukin 2 mRNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 6 |pages= 2379–83 |year= 1990 |pmid= 2315327 |doi=
*cite journal | author=Kornfeld H, Cruikshank WW, Pyle SW, "et al." |title=Lymphocyte activation by HIV-1 envelope glycoprotein. |journal=Nature |volume=335 |issue= 6189 |pages= 445–8 |year= 1988 |pmid= 2843775 |doi= 10.1038/335445a0
*cite journal | author=Bamborough P, Hedgecock CJ, Richards WG |title=The interleukin-2 and interleukin-4 receptors studied by molecular modelling. |journal=Structure |volume=2 |issue= 9 |pages= 839–51 |year= 1995 |pmid= 7529123 |doi=
*cite journal | author=Clark PA, Lester T, Genet S, "et al." |title=Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. |journal=Hum. Genet. |volume=96 |issue= 4 |pages= 427–32 |year= 1995 |pmid= 7557965 |doi=
*cite journal | author=Giri JG, Kumaki S, Ahdieh M, "et al." |title=Identification and cloning of a novel IL-15 binding protein that is structurally related to the alpha chain of the IL-2 receptor. |journal=EMBO J. |volume=14 |issue= 15 |pages= 3654–63 |year= 1995 |pmid= 7641685 |doi=
*cite journal | author=Pepper AE, Buckley RH, Small TN, Puck JM |title=Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 564–71 |year= 1995 |pmid= 7668284 |doi=
*cite journal | author=Ohbo K, Takasawa N, Ishii N, "et al." |title=Functional analysis of the human interleukin 2 receptor gamma chain gene promoter. |journal=J. Biol. Chem. |volume=270 |issue= 13 |pages= 7479–86 |year= 1995 |pmid= 7706294 |doi=
*cite journal | author=Puck JM, Pepper AE, Bédard PM, Laframboise R |title=Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. |journal=J. Clin. Invest. |volume=95 |issue= 2 |pages= 895–9 |year= 1995 |pmid= 7860773 |doi=
*cite journal | author=Schmalstieg FC, Leonard WJ, Noguchi M, "et al." |title=Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. |journal=J. Clin. Invest. |volume=95 |issue= 3 |pages= 1169–73 |year= 1995 |pmid= 7883965 |doi=
*cite journal | author=DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, "et al." |title=Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 20 |pages= 9466–70 |year= 1994 |pmid= 7937790 |doi=
*cite journal | author=Russell SM, Johnston JA, Noguchi M, "et al." |title=Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. |journal=Science |volume=266 |issue= 5187 |pages= 1042–5 |year= 1994 |pmid= 7973658 |doi=
*cite journal | author=Ishii N, Asao H, Kimura Y, "et al." |title=Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. |journal=J. Immunol. |volume=153 |issue= 3 |pages= 1310–7 |year= 1994 |pmid= 8027558 |doi=
*cite journal | author=Johnson K, Choi Y, Wu Z, "et al." |title=Soluble IL-2 receptor beta and gamma subunits: ligand binding and cooperativity. |journal=Eur. Cytokine Netw. |volume=5 |issue= 1 |pages= 23–34 |year= 1994 |pmid= 8049354 |doi=
*cite journal | author=Markiewicz S, Subtil A, Dautry-Varsat A, "et al." |title=Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. |journal=Genomics |volume=21 |issue= 1 |pages= 291–3 |year= 1994 |pmid= 8088810 |doi= 10.1006/geno.1994.1265
*cite journal | author=Kondo M, Takeshita T, Ishii N, "et al." |title=Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4. |journal=Science |volume=262 |issue= 5141 |pages= 1874–7 |year= 1994 |pmid= 8266076 |doi=
*cite journal | author=Noguchi M, Nakamura Y, Russell SM, "et al." |title=Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. |journal=Science |volume=262 |issue= 5141 |pages= 1877–80 |year= 1994 |pmid= 8266077 |doi=
*cite journal | author=Russell SM, Keegan AD, Harada N, "et al." |title=Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. |journal=Science |volume=262 |issue= 5141 |pages= 1880–3 |year= 1994 |pmid= 8266078 |doi=

External links

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* [http://research.nhgri.nih.gov/scid/ IL2RGbase: X-linked SCID mutation database]
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