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Normal Function
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.
Health Conditions Related to Genetic Changes
X-linked severe combined immunodeficiency
Hundreds of variants (also known as mutations) in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). This condition is an inherited disorder of the immune system that occurs almost exclusively in males. Most of the variants that cause X-linked SCID involve changes in one or a few DNA building blocks (nucleotides) in the IL2RG 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.
More About This Health ConditionOther Names for This Gene
- CD132
- common cytokine receptor gamma chain
- Gamma-C
- IL2RG_HUMAN
- IMD4
- interleukin 2 receptor, gamma
- interleukin 2 receptor, gamma (severe combined immunodeficiency)
- SCIDX
- SCIDX1
- X-SCID
- XSCID
- γc
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Allenspach EJ, Rawlings DJ, Petrovic A, Chen K. X-Linked Severe Combined Immunodeficiency. 2003 Aug 26 [updated 2021 Aug 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1410/ Citation on PubMed
- Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. doi: 10.1146/annurev.immunol.22.012703.104614. Citation on PubMed
- 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. doi: 10.1097/01.GIM.0000105752.80592.A3. Citation on PubMed
- 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: 10.1097/gim.0b013e31818063bc. Citation on PubMed
- Schmalstieg FC, Goldman AS. Immune consequences of mutations in the human common gamma-chain gene. Mol Genet Metab. 2002 Jul;76(3):163-71. doi: 10.1016/s1096-7192(02)00042-2. Citation on PubMed
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