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FLASH GENE
Symbol RAG2 contributors: mct/npt/pgu - updated : 27-01-2010
HGNC name recombination activating gene 2
HGNC id 9832
Corresponding disease
CCHIG combined cellular and humoral immune defect and multiple granulomas
SCIDBL severe combined immunodeficiency, T cell-negative, B cell-negative, NK cell-positive
SCIDO Omenn syndrome
Location 11p12      Physical location : 36.613.494 - 36.619.829
Synonym name V(D)J recombination-activating protein 2
DNA
TYPE functioning gene
STRUCTURE 6.32 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   HRE
motif
text structure proximal and distal regulatory elements
MAPPING cloned Y linked N status confirmed
Physical map
LOC91614 11p13 novel 58.3 KDA protein FLJ11336 11p13 hypothetical protein FLJ11336 PIGCP1 11p13-p12 phosphatidylinositol glycan, class C, pseudogene 1 CSTF3 11p13 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa LOC390107 11 similar to ribosomal protein S24 HIPK3 11p13 homeodomain interacting protein kinase 3 G2 11p13 G2 protein MGC34830 11p13 hypothetical protein MGC34830 CD59 11p13 CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344) FBXO3 11p12 F-box only protein 3 LOC390108 11 similar to hypothetical protein MGC40611 LMO2 11p13 LIM domain only 2 (rhombotin-like 1) M11S1 11p13 membrane component, chromosome 11, surface marker 1 FLJ10774 11p13 N-acetyltransferase-like protein ABTB2 11p13 ankyrin repeat and BTB (POZ) domain containing 2 CAT 11p13 catalase ELF5 11p15-p13 E74-like factor 5 (ets domain transcription factor) EHF 11p12 ets homologous factor MMRP19 11p13 likely ortholog of mouse monocyte macrophage 19 PDHX 11p13 pyruvate dehydrogenase complex, component X CD44 11p13 CD44 antigen (homing function and Indian blood group system) SLC1A2 11p13-p12 solute carrier family 1 (glial high affinity glutamate transporter), member 2 DKFZP586H2123 11p13 DKFZP586H2123 protein FJX1 11p13 four jointed box 1 (Drosophila) TRIM44 11p12-14 tripartite motif-containing 44 LOC119722 11p13 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC143458 11p13 hypothetical protein LOC143458 HSPC166 11p13 HSPC166 protein FLJ14213 11p13 hypothetical protein FLJ14213 TRAF6 11p13-p12 TNF receptor-associated factor 6 RAG1 11p13 recombination activating gene 1 RAG2 11p13 recombination activating gene 2 LOC119710 11p13 hypothetical protein BC009561 LOC390109 11 similar to Trophinin
regionally located located 8kb apart from RAG1, convergently oriented 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2440 - 527 - 1995 7774617
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveintestinesmall intestine  highly
Lymphoid/Immunelymph node   moderately
 thymus   specific
Reproductivemale systemtestis  moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoidlymphoid nodulegerminal center  
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticthymocyte
Lymphoid/ImmuneB cell
Lymphoid/ImmuneT cell
cell lineage
  • B cell lineage
  • T lymphocyte lineage
  • cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle
    life cycle G0
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • six bladded beta propeller molecule
  • four Kelch repeats
  • a "core" domain that is required for the recombination reaction
  • C-terminal region from amino acids 417 to 484, PHD domain, a functionally important domain involved in chromatin-mediated gene regulation by protein-protein interaction, nonessential or "non-core" region and a region (AA 491-527), downstream of the putative PHD domain, directing the nuclear localization of the protein, and although dispensable for recombination, is critical for maintaining genomic stability, and inhibiting lymphomagenesis
  • mono polymer heteromer , dimer , complex
    HOMOLOGY
    interspecies ortholog to murine Rag2
    ortholog to rattus rag2
    Homologene
    FAMILY
  • RAG2 family
  • CATEGORY immunity/defense , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    text localized in the epithelial layer and absent in the lamina propria of intestine
    basic FUNCTION
  • acting as an endonuclease
  • involved in the generation of antibody gene diversity
  • catalyze V(D)J recombination and is essential for generation of the diverse repertoire of antigen receptor genes and effective immune responses
  • required to assemble mature Ag receptor genes in developing lymphocytes
  • required for the rearrangement of antigen receptor genes
  • core RAG2 impairs the stability of the RAG post-cleavage complex
  • having a genome guardian role
  • CELLULAR PROCESS nucleotide, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with RAG1
  • involved in RAG complexes containing three to five molecules of RAG2 for each molecule of RAG1
  • essential component of the RAG1/2 V(D)J recombinase, which mediates antigen-receptor gene assembly--contains a plant homeodomain (PHD) finger that specifically recognizes histone H3 trimethylated at lysine 4 (H3K4me3)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by activation of Abl and Erk kinases in T cells, leading to the transcriptional inactivation of RAG1 and RAG2
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDO , SCIDBL , CCHIG
    related resource RAG2base: Mutation registry for autosomal recessive RAG2 immunodeficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS