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  Domain Name: RAG2
Recombination activating protein 2. V-D-J recombination is the combinatorial process by which the huge range of immunoglobulin and T cell binding specificity is generated from a limited amount of genetic material. This process is synergistically activated by RAG1 and RAG2 in developing lymphocytes. Defects in RAG2 in humans are a cause of severe combined immunodeficiency B cell negative and Omenn syndrome.
No pairwise interactions found for the domain RAG2

Total Mutations Found: 18
Total Disease Mutations Found: 9
This domain occurred 1 times on human genes (2 proteins).



  COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
  OMENN SYNDROME
  OMENN SYNDROME, INCLUDED
  SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for RAG2



















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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