RAG2 deficiency

Gene Information


HUGO name: RAG2


  • recombination activating gene 2
  • V(D)J recombination activating protein 2 (RAG-2)


Reference sequences

Chromosomal location


Protein Information


Protein function:

During lymphocyte development, the genes encoding immunoglobulins and T cell receptors are assembled from Variable (V), Diversity (D), and Joining (J) gene segments. This combinatorial process, known as V(D)J recombination, allows the generation of an enormous range of binding specificities from a limited amount of genetic information. The RAG1/RAG2 complex initiates this process by binding to the conserved Recombination Signal Sequences (RSS) and introducing a double-strand break between the RSS and the adjacent coding segment. These breaks are generated in two steps, nicking of one strand (hydrolysis), followed by hairpin formation (transesterification). RAG1/2 has also been shown to function as a transposase in vitro, and to possess RSS-independent endonuclease activity (end processing) and hairpin opening. RAG1 alone can bind to RSS but stable, efficient binding requires RAG2. All known catalytic activities require the presence of both proteins.


The RAG complexes appear to contain three to five molecules of RAG2 for each molecule of RAG1

Subcellular location:


Other features

Other related resourses:


Expression pattern for human

Tissue Expression (%) Clones
leukopheresis 52.14 2:4557
thymus, pooled 37.49 1:3169
testis 8.24 6:86533
pool, lung+testis+B-cell 2.13 1:55714

Animal models

Mus musculus (Mouse)

Oryctolagus cuniculus (Rabbit)

    Gallus gallus (Chicken)

      Xenopus laevis (African clawed frog)

        Oncorhynchus mykiss (Rainbow trout) (Salmo gairdneri)