Property Summary

NCBI Gene PubMed Count 75
PubMed Score 764.32
PubTator Score 312.38

Knowledge Summary


No data available

 GO Component (1)

Gene RIF (51)

26996199 molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review)
26515615 gene deficiency results in late onset autoimmune hemolytic anemia
25869295 This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt.
25831509 analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage
25745109 analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity
25625798 DNA damage triggers relocalization of RAG2 from the nucleus to centrosomes, suggesting a novel mechanism for modulating cellular responses to double strand breaks in developing lymphocytes.
25327637 Investigate the factors that regulate RAG1 and RAG2 cleavage on non-B DNA structures. We find that RAG binding and cleavage on heteroduplex DNA is dependent on the length of the double-stranded flanking region.
25198102 found that Ikaros, a lymphocyte-specific transcription factor, acts as a repressor of NWC promoter--thus identifying a new Ikaros target--but is insufficient for inducing methylation which depends on the antisense transcription driven by RAG-2 promoter
24797073 Observations indicate that the RAG proteins exert fine control over every step of V(D)J cleavage.
24472623 The results indicate that the contribution of immune dysregulatory disease due to RAG2 mutations present in the general population may be much higher than previously estimated.
23438597 The major B cell isoform, BCL11A-XL, binds the RAG1 promoter and Erag enhancer to activate RAG1 and RAG2 transcription in pre-B cells.
23333304 HIV-1 Vif downregulates the expression of recombination activating gene 2 (RAG2) in Vif-expression T cells
22984564 Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells
22841008 A novel homozygous mutation with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
22737248 analysis of multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor
22424479 Homozygous mutation of p.R394Q/p.R394Q and p.R776Q, 3047-3049 del GCC mutations are novel and they are causing serious T-B-NK + SCID.
22287717 USF-1 but not USF-2 is strongly enriched at Dbeta2 in chromatin from either Rag2-/- deficient thymocytes or Rag2-/- deficient thymocytes that express a rearranged Tcrb transgene.
21655267 The results indicate that in cancer cells E2A, FOXO1 and FOXP1 regulate RAG1 and RAG2 expression, which initiates Ig gene rearrangement much in the way similar to B lymphocytes.
21625022 IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
21624848 In the RAG1 gene we detected two novel mutations: L454Q and 469 fs-4bpdel. In the RAG 2 gene: 3 novel mutations: D65Y, G157V, and E480X. One T-B- SCID patient had a compound heterozygote for new mutations in the adenosine deaminase gene: W264X and R235W.
21481940 study demonstrates that exogenous TCR alpha and beta chains transferred into the human immature RAG(+) T cell line Sup-T1 by lentiviral transduction inhibit RAG expression through tonic signaling
21131235 study reports 5 cases of RAG deficiency; genetic defects were heterogeneous and included 6 novel RAG mutations; all missense mutations except for Met443Ile in RAG2 were located in active core regions of RAG1 or RAG2
20813000 Meta-analysis of gene-disease association. (HuGE Navigator)
20568250 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20234091 Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
19859091 Observational study of genetic testing. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)
19573080 Observational study of gene-disease association. (HuGE Navigator)
19404965 Two independent signals are required for the induction of RAG gene expression in B cells that infiltrate the synovium of patients with RA.
19359154 Studies in B and T lymphocytes demonstrate that the reduction in RAG expression at the immature B and double-positive (DP) T cell stages is mediated through tonic (foreign antigen independent) receptor signaling.
18463379 We describe three girls with a primary immunodeficiency disease associated with hypomorphic mutations in one of the two recombinase activating genes (RAG1 and RAG2).
18089566 the RAG-7-mer interaction is a critical step for coding DNA distortion and hairpin formation in the context of the 12/23 rule.
18033247 a conserved tryptophan residue (W453) that constitutes a key structural component of the K4me3-binding surface and is essential for RAG2's recognition of H3K4me3 is mutated in patients with immunodeficiency syndromes
17982069 IL-6 initiates the expression of RAG2 in circulating B cells, and extends those in tonsil B cells.
17476358 A knockin murine model carrying the Rag2 R229Q mutation previously described in several patients with Omenn syndrome (OS)supports the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS.
17075247 Ths review focusses on the variation of inherited hypomorphic mutations of recombination activating genes either 1 or 2 (RAG1/2) that have been detected in most Omenn syndrome patients.
16111638 The carboxyl terminus of Rag2 plays a unique role as a direct bridge between chromatin and recombinase during chromosomal V(D)J recombination
15949444 SKP2 mediates ubiquitylation of RAG-2 in vitro and degradation of RAG-2 in vivo.
15843554 Activated mature CD5-positive human tonsil B cells coexpress both RAG2 and RAG1 mRNA and protein, and display DNA cleavage resulting from their recombinase activity.
15295705 expressed in peripheral blood mononuclear cells (PBMCs) from 42% of patients with infectious mononucleosis but not from health control subjects.
15249552 RAG1 and RAG2 interact with recombination signal sequence DNA in the coding region in pre-and post-cleavage type synaptic complexes
14726805 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)
14624253 Erk and Abl kinases suppress RAG-1 and -2 gene expression through T cell receptor-independent basal signaling
12897800 DNA methylation inhibits the cleavage activity of the RAG1/RAG2 complex by two different mechanisms, depending on the position of the mCpG around the recombination signal sequences
12861017 intrinsic RAG-2 NLS functions in the nuclear uptake of RAG-2 following its reexpression in cycling cells
12757263 Data show that a mature nonmalignant human B cell clone producing IgMlambda-ICA can express RAG-1/RAG-2 transcripts
12355431 RAG2 expression and non-functional TCR rearrangements continuously take place in peripheral mature T cells of all activation/differentiation stages
12200379 B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG1 and RAG2 proteins.
12145704 No sequence changes in RAG2 were found in a series of hematologic leukemias or their cell lines.
12115231 RAG expression is up-regulated in peripheral IgD+ and VpreB+ B cells of patients with active SLE.

AA Sequence

PQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD                                     491 - 527

Text Mined References (76)

PMID Year Title
26996199 2016 Human RAG mutations: biochemistry and clinical implications.
26515615 2015 Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.
25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
25831509 2015 Single-molecule analysis of RAG-mediated V(D)J DNA cleavage.
25745109 2015 Mapping and Quantitation of the Interaction between the Recombination Activating Gene Proteins RAG1 and RAG2.
25625798 2015 Spatio-temporal regulation of RAG2 following genotoxic stress.
25327637 2015 Structure-specific nuclease activity of RAGs is modulated by sequence, length and phase position of flanking double-stranded DNA.
25198102 2014 Ikaros and RAG-2-mediated antisense transcription are responsible for lymphocyte-specific inactivation of NWC promoter.
24797073 2014 Synapsis alters RAG-mediated nicking at Tcrb recombination signal sequences: implications for the “beyond 12/23” rule.
24472623 2014 Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
23438597 2013 The BCL11A transcription factor directly activates RAG gene expression and V(D)J recombination.
22984564 2012 Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells.
22841008 2012 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
22737248 2012 Multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor.
22424479 2012 Novel mutat?ons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
22287717 2012 DNA double-strand breaks relieve USF-mediated repression of D?2 germline transcription in developing thymocytes.
21655267 2011 Transcription factors E2A, FOXO1 and FOXP1 regulate recombination activating gene expression in cancer cells.
21625022 2011 IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
21481940 2011 TCR transfer induces TCR-mediated tonic inhibition of RAG genes in human T cells.
21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.
20813000 2010 Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies.
20568250 2010 Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20234091 2010 Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
19859091 2009 Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19573080 2009 Common genetic variants in candidate genes and risk of familial lymphoid malignancies.
19404965 2009 Transmembrane BAFF from rheumatoid synoviocytes requires interleukin-6 to induce the expression of recombination-activating gene in B lymphocytes.
19359154 2009 Mechanisms controlling expression of the RAG locus during lymphocyte development.
18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.
18089566 2008 RAG-heptamer interaction in the synaptic complex is a crucial biochemical checkpoint for the 12/23 recombination rule.
18033247 2007 RAG2 PHD finger couples histone H3 lysine 4 trimethylation with V(D)J recombination.
17982069 2007 IL-6 contributes to the expression of RAGs in human mature B cells.
17476358 2007 A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16111638 2005 A direct interaction between the RAG2 C terminus and the core histones is required for efficient V(D)J recombination.
15949444 2005 Ubiquitylation of RAG-2 by Skp2-SCF links destruction of the V(D)J recombinase to the cell cycle.
15843554 2005 Expression of RAGs in peripheral B cells outside germinal centers is associated with the expression of CD5.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15295705 2004 Peripheral blood lymphocytes express recombination-activating genes 1 and 2 during Epstein-Barr virus-induced infectious mononucleosis.
15249552 2004 Joining mutants of RAG1 and RAG2 that demonstrate impaired interactions with the coding-end DNA.
15025726 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
14726805 Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14624253 2003 T cell receptor-independent basal signaling via Erk and Abl kinases suppresses RAG gene expression.
12897800 2003 Effect of CpG methylation on RAG1/RAG2 reactivity: implications of direct and indirect mechanisms for controlling V(D)J cleavage.
12861017 2003 Overlapping signals for protein degradation and nuclear localization define a role for intrinsic RAG-2 nuclear uptake in dividing cells.
12757263 2003 Transcript expression of two Iglambda rearrangements and RAG-1/RAG-2 in a mature human B cell producing IgMlambda islet cell autoantibody.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12355431 2002 Continued expression of recombination-activating genes and TCR gene recombination in human peripheral T cells.
12200379 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
12145704 2002 Sequence conservation of RAG-1 and RAG-2 genes in hematologic malignancies.
12115231 2002 Expression of recombination activating genes 1 and 2 in peripheral B cells of patients with systemic lupus erythematosus.
11214319 2001 Molecular phylogenetics and the origins of placental mammals.
11134329 2001 Irradiation promotes V(D)J joining and RAG-dependent neoplastic transformation in SCID T-cell precursors.
11123315 2001 RAG1 and RAG2 expression by B cell subsets from human tonsil and peripheral blood.
10892649 2000 RAG1/2-mediated resolution of transposition intermediates: two pathways and possible consequences.
10891502 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
10601032 1999 Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination.
10330156 1999 DNA hairpin opening mediated by the RAG1 and RAG2 proteins.
9885569 1998 Hairpin coding end opening is mediated by RAG1 and RAG2 proteins.
9760994 1998 The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis.
9742255 1998 Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR).
9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.
9036966 1997 Definition of a large region of RAG1 that is important for coimmunoprecipitation of RAG2.
8810255 1996 RAG mutations in human B cell-negative SCID.
8521468 1995 Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps.
7963556 1994 Expression of recombinase-activating genes (RAG-1 and 2) in human decidual mononuclear cells.
7774617 1995 RAG1 and RAG2 expression in human intestinal epithelium: evidence of extrathymic T cell differentiation.
2360047 1990 RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination.
1832998 1991 Expression of human recombination activating genes (RAG1 and RAG2) in neoplastic lymphoid cells: correlation with cell differentiation and antigen receptor expression.
1428003 1992 Sequence and chromosome assignment to 11p13-p12 of human RAG genes.
1283330 1992 Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups.