RAG2

Recombination activating gene 2
Identifiers
Symbols	RAG2 ; RAG-2
External IDs	OMIM: 179616 HomoloGene: 7507 GeneCards: RAG2 Gene
Gene ontology Molecular function • DNA binding • chromatin binding • phosphatidylinositol-4,5-bisphosphate binding • phosphatidylinositol-3,4,5-trisphosphate binding • zinc ion binding • methylated histone binding • phosphatidylinositol binding • phosphatidylinositol-3,4-bisphosphate binding • ubiquitin protein ligase activity • phosphatidylinositol-3,5-bisphosphate binding Cellular component • nucleus Biological process • B cell lineage commitment • pre-B cell allelic exclusion • B cell homeostatic proliferation • T cell lineage commitment • protein ubiquitination • chromatin modification • B cell differentiation • T cell differentiation in thymus • V(D)J recombination • positive regulation of organ growth Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5897	19374
Ensembl	ENSG00000175097	ENSMUSG00000032864
UniProt	P55895	P21784
RefSeq (mRNA)	NM_000536	NM_009020
RefSeq (protein)	NP_000527	NP_033046
Location (UCSC)	Chr 11: 36.58 – 36.6 Mb	Chr 2: 101.62 – 101.63 Mb
PubMed search

Recombination activating gene 2 also known as RAG-2 is a protein that in humans is encoded by the RAG2 gene.^[1]

Function

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.

Clinical significance

Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms.^[1]

References

1. "Entrez Gene: Recombination activating gene 2".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.