Common gamma chain

Source: Wikipedia, the free encyclopedia.
IL2RG
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_000206

NM_013563
NM_001308535

RefSeq (protein)

NP_000197

NP_001295464
NP_038591

Location (UCSC)Chr X: 71.11 – 71.11 MbChr X: 100.31 – 100.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The common gamma chainc) (or CD132), also known as interleukin-2 receptor subunit gamma or IL-2RG, is a

X-chromosome
of mammals.

This protein is located on the surface of immature blood-forming cells in bone marrow. One end of the protein resides outside the cell where it binds to cytokines and the other end of the protein resides in the interior of the cell where it transmits 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.

Gene

Cytokine receptor common subunit gamma also known as interleukin-2 receptor subunit gamma or IL-2RG is a protein that in humans is encoded by the IL2RG gene.[8] The human 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.

IL-7 receptor and signaling, common γ chain (blue) and IL-7 receptor-α (green)

Structure

The γc chain is an integral membrane protein that contains extracellular, transmembrane, and intracellular domains.

Function

Lymphocytes expressing the common gamma chain can form functional receptors for these cytokine proteins, which transmit signals from one cell to another and direct programs of cellular differentiation.

Ligands

The γc chain partners with other ligand-specific receptors to direct lymphocytes to respond to cytokines including IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21.[9]

Signalling

IL2RG has been shown to

interact with Janus kinase 3.[10][11]

Clinical significance

X-linked severe combined immunodeficiency

NK cell
populations respectively fail to develop.

Experiments in animal models have shown X-SCID to occur similarly in dogs, but not in mice.[14]

Schizophrenia

Alterations in the immune response are involved in pathogenesis of many neuropsychiatric disorders including schizophrenia. Distinct gene variants of a number of pro-inflammatory and chemotactic cytokines together with their receptors associate with this disorder. IL2RG represents an important signaling component of many interleukin receptors and so far, no data on the functional state of this receptor in schizophrenia have been reported. Over-expression of the IL2RG gene may be implicated in altered immune response in schizophrenia and contribute to the pathogenesis of this disorder.[15]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147168 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031304 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 8266078
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  12. PMID 11037300. {{cite book}}: |journal= ignored (help
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Further reading

External links