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Genetics Home Reference: your guide to understanding genetic conditions
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IL2RG

Reviewed May 2009

What is the official name of the IL2RG gene?

The official name of this gene is “interleukin 2 receptor, gamma.”

IL2RG is the gene's official symbol. The IL2RG gene is also known by other names, listed below.

What is the normal function of 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. The receptors span the cell membrane, with one end outside the cell like an antenna and the other end inside to transmit signals to the nucleus. Other proteins attach to these receptors, like a key in a lock, to trigger a series of chemical reactions inside the cell.

Receptors containing the common gamma chain are located on the surface of immature blood-forming cells in bone marrow. They partner with other proteins to direct blood-forming cells to form lymphocytes (a type of white blood cell). The receptors also regulate the growth and maturation of several subtypes of lymphocytes: T cells, B cells, and natural killer cells. These cells kill viruses, make antibodies, and help regulate the entire immune system.

Does the IL2RG gene share characteristics with other genes?

The IL2RG gene belongs to a family of genes called CD (CD molecules). It also belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called IL (interleukin and interleukin receptor genes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the IL2RG gene related to health conditions?

X-linked severe combined immunodeficiency - caused by mutations in the IL2RG gene

More than 300 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 prevent any protein from being produced. 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 prevents the immune system from fighting off infections.

Where is the IL2RG gene located?

Cytogenetic Location: Xq13.1

Molecular Location on the X chromosome: base pairs 70,327,253 to 70,331,480

The IL2RG gene is located on the long (q) arm of the X chromosome at position 13.1.

The IL2RG gene is located on the long (q) arm of the X chromosome at position 13.1.

More precisely, the IL2RG gene is located from base pair 70,327,253 to base pair 70,331,480 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about IL2RG?

You and your healthcare professional may find the following resources about IL2RG helpful.

  • Educational resources - Information pages
    Immunobiology (fifth edition, 2001): Defects in T-cell function result in severe combined immunodeficiencies (http://www.ncbi.nlm.nih.gov/books/NBK27109/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1410/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for IL2RG (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3561%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(IL2RG%5BTIAB%5D)%20OR%20((CD132%5BTIAB%5D)%20OR%20(common%20cytokine%20receptor%20gamma%20chain%5BTI%5D)%20OR%20(IMD4%5BTIAB%5D)%20OR%20(SCIDX%5BTIAB%5D)%20OR%20(common%20gamma%20chain%5BTI%5D)%20OR%20(IL-2%20receptor%5BTI%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/308380)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_IL2RG.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3561)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=3561)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6010)
    • X-linked SCID mutation database (IL2RGbase) (http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG)

What other names do people use for the IL2RG gene or gene products?

  • CD132
  • common cytokine receptor gamma chain
  • Gamma-C
  • γc
  • IL2RG_HUMAN
  • IMD4
  • interleukin 2 receptor, gamma (severe combined immunodeficiency)
  • SCIDX
  • SCIDX1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IL2RG?

bone marrow ; cell ; cell membrane ; cytokine ; DNA ; gene ; immune system ; immunodeficiency ; killer cells ; natural killer cells ; nucleus ; protein ; receptor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15032591?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3561)
  • Gene Review: X-Linked Severe Combined Immunodeficiency (http://www.ncbi.nlm.nih.gov/books/NBK1410/)
  • Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R. 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. 2004 Jan-Feb;6(1):16-26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14726805?dopt=Abstract)
  • Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. 2008 Aug;10(8):575-85. doi: 10.1097GIM.0b013e31818063bc. (http://www.ncbi.nlm.nih.gov/pubmed/18641513?dopt=Abstract)
  • Ochs, Hans D; Smith, C I Edvard; Puck, Jennifer; Primary immunodeficiency diseases : a molecular and genetic approach; 2nd ed.; Oxford ; New York : Oxford University Press, 2007. p99-110.
  • Schmalstieg FC, Goldman AS. Immune consequences of mutations in the human common gamma-chain gene. Mol Genet Metab. 2002 Jul;76(3):163-71. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12126929?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2009
Published: May 20, 2013