RAG2: Difference between revisions

RAG2
Symbol	RAG2
HGNC ID	9830
Alternative symbols	–
Entrez Gene	5897
OMIM	179620
RefSeq	NM_000536
UniProt	P55895
Chromosome	11p13
Locus supplementary data	–

Latest revision as of 20:47, 30 December 2024

RAG2 (Recombination Activating Gene 2) is a gene that plays a crucial role in the immune system by enabling the recombination of immunoglobulin and T cell receptor genes. This process is essential for the development of B cells and T cells, which are critical components of the adaptive immune system.

Function[edit]

The RAG2 gene, along with RAG1, is responsible for the initiation of V(D)J recombination, a mechanism that generates diverse antigen receptors necessary for the immune system to recognize a wide array of pathogens. The RAG2 protein forms a complex with the RAG1 protein, and together they introduce double-strand breaks at specific sites in the DNA of developing lymphocytes.

Clinical Significance[edit]

Mutations in the RAG2 gene can lead to severe immunodeficiency disorders, such as Severe Combined Immunodeficiency (SCID) and Omenn syndrome. These conditions are characterized by a lack of functional B and T cells, leading to increased susceptibility to infections.

Research[edit]

Studies on RAG2 have provided insights into the mechanisms of genomic instability and the development of lymphoid malignancies. Understanding the function and regulation of RAG2 is crucial for developing therapies for immunodeficiency disorders and certain types of cancer.

References[edit]

External Links[edit]

[RAG2 Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/RAG2)
[RAG2 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2)

@@ Line 1: / Line 1: @@
-'''RAG2''' or '''Recombination Activating Gene 2''' is a gene that in humans is encoded by the RAG2 gene. It is located on chromosome 11 in humans. RAG2, along with [[RAG1]], plays a crucial role in the [[immune system]] by initiating the genetic rearrangement of the [[T-cell receptor]] and [[B-cell receptor]] genes, a process known as V(D)J recombination.
+{{Infobox gene
+| name = RAG2
+| image = <!-- Image removed -->
+| caption = <!-- Caption removed -->
+| HGNCid = 9830
+| symbol = RAG2
+| altSymbols =
+| EntrezGene = 5897
+| OMIM = 179620
+| RefSeq = NM_000536
+| UniProt = P55895
+| chromosome = 11
+| arm = p
+| band = 13
+}}
+'''RAG2''' (Recombination Activating Gene 2) is a [[gene]] that plays a crucial role in the [[immune system]] by enabling the [[recombination]] of [[immunoglobulin]] and [[T cell receptor]] genes. This process is essential for the development of [[B cells]] and [[T cells]], which are critical components of the [[adaptive immune system]].
 == Function ==
-RAG2 is a component of the [[V(D)J recombinase]] complex, which mediates the process of V(D)J recombination. This process is essential for the development of mature [[B cells]] and [[T cells]], which are key components of the adaptive immune system. The RAG2 protein acts as a scaffold that brings together the DNA substrates to be recombined and the RAG1 protein, which performs the actual DNA cleavage.
+The RAG2 gene, along with [[RAG1]], is responsible for the initiation of [[V(D)J recombination]], a mechanism that generates diverse [[antigen receptors]] necessary for the immune system to recognize a wide array of pathogens. The RAG2 protein forms a complex with the RAG1 protein, and together they introduce double-strand breaks at specific sites in the [[DNA]] of developing lymphocytes.
-== Clinical significance ==
+== Clinical Significance ==
-Mutations in the RAG2 gene can lead to severe combined immunodeficiency (SCID), a condition characterized by a lack of functional T cells and B cells. This results in a severely compromised immune system, leaving affected individuals susceptible to a wide range of infections. Other conditions associated with RAG2 mutations include Omenn syndrome and atypical SCID.
+Mutations in the RAG2 gene can lead to severe immunodeficiency disorders, such as [[Severe Combined Immunodeficiency]] (SCID) and [[Omenn syndrome]]. These conditions are characterized by a lack of functional B and T cells, leading to increased susceptibility to infections.
 == Research ==
-Research into the RAG2 gene and its associated protein continues to provide valuable insights into the workings of the immune system. It also has potential implications for the development of new treatments for immune disorders.
+Studies on RAG2 have provided insights into the mechanisms of [[genomic instability]] and the development of [[lymphoid malignancies]]. Understanding the function and regulation of RAG2 is crucial for developing therapies for immunodeficiency disorders and certain types of [[cancer]].
-[[File:RAG2.png|thumb|right|300px|The RAG2 protein. Image from Wikimedia Commons.]]
-== See also ==
+== See Also ==
 * [[RAG1]]
 * [[V(D)J recombination]]
-* [[Severe combined immunodeficiency]]
+* [[Adaptive immune system]]
-* [[Omenn syndrome]]
+* [[Severe Combined Immunodeficiency]]
 == References ==
 <references />
-{{Genes on human chromosome 11}}
+== External Links ==
-{{Immunology-stub}}
+* [RAG2 Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/RAG2)
+* [RAG2 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2)
 [[Category:Genes on human chromosome 11]]
+[[Category:Immune system]]
 [[Category:Immunology]]
-[[Category:Medical genetics]]
+[[Category:Genetics]]