Alt. symbols: RAG2

Approved name: recombination activating 2
Alt. names: recombination activating gene 2

Location: 11p12: 36575574 - 36598279 (-)
Gene type: protein_coding, 8 transcripts.

Scores: LoFtool: 0.206000 | pLI: 0.01051931 | LOEUF: 0.792

HGNC: 9832

NCBI: 5897, RefSeq: NG_007573.1

Ensembl: ENSG00000175097.9

LRG_99 | Status: public

OMIM: 179616

Expression | ProteinAtlas

The RAG2 gene encodes one of the core subunits of the RAG complex. This complex is a tetramer formed by a dimer of RAG1 subunits and two RAG2 subunits. The RAG complex is crucial for the maturation of lymphocytes (B cells and T cells) as it is involved in the rearrangement and recombination of the genes that encode the immunoglobulins and the T cell receptors (V(D)J recombination). This process is important because it generates the diversity of antibodies and receptors that is needed to recognise a wide variety of antigens. RAG2 is expressed in immature lymphoid cells and accumulates mainly in G0 and G1 phase of cell cycle, but undergoes rapid degradation when the cell enters S phase, while the amount of RAG1 is constant during the cell cycle. RAG2 does not appear to possess any endonuclease or DNA binding activity. It appears to play a role as an accessory factor, interacting with RAG1 and activating its endonuclease functions. RAG2 also enhances RSS recognition and thereby decreases unspecific DNA binding by RAG complex.

Biallelic mutations in RAG2 cause severe combined immunodeficiency (SCID) [MIM:601457]. Depending on the residual function of the hypomorphic gene, the following phenotypes can also occur: Omenn syndrome 2 [MIM:603554], combined immunodeficiency without or with granulomas [MIM:233650], common variable immunodeficiency or selective IgA deficiency. Omenn syndrome is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, eosinophilia, hepatosple nomegaly, and elevated serum IgE levels. Patients with Omenn syndrome are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. Patients also present low IgG, IgA, and IgM, and the virtual absence of B cells. The number of T cells is often elevated, but their function is impaired. [Load More]