Entrez gene ID | | 5897 |
Official gene symbol | | RAG2 |
Full name | | recombination activating gene 2 |
Aliases | | ,RAG-2, |
Gene summary | | This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11p13 |
Gene position | | 36619829 - 36613493 Map Viewer |
Gene orientation | | minus |
Gene size | | 6337 bp |
Gene sequence |
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OMIM ID | | 179616 |
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