RAG2

Also known as RAG-2, recombination activating gene 2, recombination activating 2

Gen der Spezies Homo sapiens

Gene data

RAG2

Name: recombination activating 2
Type: protein-coding
Position: 36,575,574–36,598,279 (−)
Aliases: RAG-2
Ensembl: ENSG00000175097
RefSeq RNA: NM_000536.4, NM_001243785.2, NM_001243786.2, NR_033666.1, XM_047427385.1
RefSeq protein: NP_000527.2, NP_001230714.1, NP_001230715.1, XP_047283341.1, XP_047283342.1

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, Jul 2008].