IL2RG

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It has been suggested that this article or section be merged into Common gamma chain. (Discuss)

Interleukin 2 receptor, gamma (severe combined immunodeficiency)

PDB rendering based on 2b5i.

Available structures: 2b5i, 2erj

Identifiers

Symbol(s)

IL2RG; CD132; IMD4; SCIDX; SCIDX1

External IDs

OMIM: 308380 MGI: 96551 HomoloGene: 172

Gene ontology
Molecular Function:	• receptor activity • hematopoietin/interferon-class (D200-domain) cytokine receptor activity • interleukin-2 receptor activity • interleukin-4 receptor activity • interleukin-7 receptor activity • protein binding
Cellular Component:	• integral to plasma membrane • external side of plasma membrane • membrane
Biological Process:	• immune response • signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000206 (mRNA)
NP_000197 (protein)

NM_013563 (mRNA)
NP_038591 (protein)

Location

Chr X: 70.24 - 70.25 Mb

Chr X: 97.47 - 97.47 Mb

Pubmed search

[1]

[2]

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.

1 Related conditions
2 References
3 Further reading
4 External links

[edit] 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.

[edit] References

Buckley RH (2004). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu Rev Immunol 22: 625–55. doi:10.1146/annurev.immunol.22.012703.104614. PMID 15032591.
Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R (2004). "Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review". Genet Med 6 (1): 16–26. PMID 14726805.

[edit] Further reading

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