Gene: RAG1

Alternate names for this Gene: RAG-1|RNF74

Gene Summary: The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases.

Gene is located in Chromosome: 11

Location in Chromosome : 11p12

Description of this Gene: recombination activating 1

Type of Gene: protein-coding

Gene: RAG2

Alternate names for this Gene: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p12

Description of this Gene: recombination activating 2

Type of Gene: protein-coding

rs104894287 in RAG1;RAG2 gene and ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY PMID 16276422 2005 A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

rs121918570 in RAG1;RAG2 gene and Combined Cellular And Humoral Immune Defects With Granulomas PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

PMID 18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

PMID 19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

rs150739647 in RAG1;RAG2 gene and Omenn Syndrome PMID 19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PMID 10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PMID 9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

rs150739647 in RAG1;RAG2 gene and Severe Combined Immunodeficiency PMID 11971977 2002 Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.

PMID 25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

PMID 18768869 2008 A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.

PMID 18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

PMID 11213808 2000 The genetic and biochemical basis of Omenn syndrome.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 20956421 2010 Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

rs121918572 in RAG1;RAG2 gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive PMID 18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

PMID 19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

PMID 17572155 2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.