Reviewed November 2005
What is the official name of the IL2RG gene?
The official name of this gene is “interleukin 2 receptor, gamma (severe combined immunodeficiency).”
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 receptor 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.
Does the IL2RG gene share characteristics with other genes?
The IL2RG gene belongs to a family of genes called CD (CD molecules).
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? in the Handbook.
How are changes in the IL2RG gene related to health conditions?
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X-linked severe combined immunodeficiency - caused by mutations in the IL2RG gene
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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.
Where is the IL2RG gene located?
Cytogenetic Location: Xq13.1
Molecular Location on the X chromosome: base pairs 70,243,983 to 70,248,127
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 70,243,983 to base pair 70,248,127 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IL2RG?
You and your healthcare professional may find the following resources about IL2RG helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM - Genetic disorder catalog
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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
- SCIDX
- SCIDX1
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IL2RG?
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? in the Handbook.
