Property Summary

NCBI Gene PubMed Count 75
Grant Count 542
R01 Count 278
Funding $69,217,409.18
PubMed Score 764.32
PubTator Score 312.38

Knowledge Summary

Patent

No data available

Synonym

Accession P55895 A8K9E9 Q8TBL4 RAG-2
Symbols RAG-2

Gene

 GO Component (1)

Gene RIF (51)

PMID Text
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.
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AA Sequence

MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPTIFSKDSCYLP      1 - 70
PLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKVTFRCTEKDLVGDVPEARYGH     71 - 140
SINVVYSRGKSMGVLFGGRSYMPSTHRTTEKWNSVADCLPCVFLVDFEFGCATSYILPELQDGLSFHVSI    141 - 210
AKNDTIYILGGHSLANNIRPANLYRIRVDLPLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLE    211 - 280
NQKRMICNIISLEDNKIEIREMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKC    281 - 350
AEDDTNEEQTTFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCC    351 - 420
PTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNEHVEIARALHT    421 - 490
PQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD                                     491 - 527
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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.
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