RAG2

RAG2
Identifiers
Aliases	RAG2, RAG-2, recombination activating gene 2, recombination activating 2
External IDs	MGI: 97849 HomoloGene: 7507 GeneCards: RAG2
Gene location (Human) Chr. Chromosome 11 (human)[1] Band No data available Start 36,575,574 bp[1] End 36,598,279 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band No data available Start 101,624,718 bp[2] End 101,632,529 bp[2]
Gene ontology Molecular function • DNA binding • ubiquitin protein ligase activity • zinc ion binding • chromatin binding • phosphatidylinositol-3,5-bisphosphate binding • metal ion binding • phosphatidylinositol-3,4-bisphosphate binding • methylated histone binding • phosphatidylinositol binding • phosphatidylinositol-4,5-bisphosphate binding • phosphatidylinositol-3,4,5-trisphosphate binding Cellular component • nucleoplasm • nucleus Biological process • DNA recombination • B cell homeostatic proliferation • T cell differentiation in thymus • positive regulation of organ growth • T cell differentiation • B cell lineage commitment • protein ubiquitination • V(D)J recombination • pre-B cell allelic exclusion • B cell differentiation • T cell lineage commitment • covalent chromatin modification • defense response to bacterium Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5897	19374
Ensembl	ENSG00000175097	ENSMUSG00000032864
UniProt	P55895	P21784
RefSeq (mRNA)	NM_000536 NM_001243785 NM_001243786	NM_009020
RefSeq (protein)	NP_000527 NP_001230714 NP_001230715	NP_033046
Location (UCSC)	Chr 11: 36.58 – 36.6 Mb	Chr 11: 101.62 – 101.63 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Recombination activating gene 2 also known as RAG-2 is a protein that in humans is encoded by the RAG2 gene.^[5]

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.^[5]

References

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