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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAG2 Gene

protein-coding   GIFtS: 59
GCID: GC11M036613

recombination activating gene 2

 Explore 30 diseases affiliated with
RAG2 via our new
 Human Malady Compendium 
Biological research products
for RAG2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Recombination Activating Gene 21 2
RAG-22 3
V(D)J Recombination-Activating Protein 22

External Ids:    HGNC: 98321   Entrez Gene: 58972   Ensembl: ENSG000001750977   OMIM: 1796165   UniProtKB: P558953   

Export aliases for RAG2 gene to outside databases

Previous GC identifers: GC11M038170 GC11M037290 GC11M036652 GC11M036577 GC11M036570 GC11M036316


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAG2:
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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895
Function: Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J
recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in
developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J
(joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top
strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on
the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2
blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions
and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps.
The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single
immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor
(BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin
allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing
accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic
component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of
chromatin state that recruits the RAG complex to H3K4me3 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAG2 gene promoter:
         AP-1   SREBP-1c   ATF-2   Nkx2-5   NF-kappaB   SREBP-1b   SREBP-1a   STAT3   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p12   HGNC cytogenetic band: 11p13

RAG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAG2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M036613:  view genomic region     (about GC identifiers)

Start:
36,597,124 bp from pter      End:
36,619,829 bp from pter
Size:
22,706 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895 (See protein sequence)
Recommended Name: V(D)J recombination-activating protein 2  
Size: 527 amino acids; 59241 Da
Subunit: Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or
HMGB2 (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: A8K9E9 Q8TBL4

Explore the universe of human proteins at neXtProt for RAG2: NX_P55895

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55895

  • RAG2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_000527.2  NP_001230714.1  NP_001230715.1  

    ENSEMBL proteins: 
     ENSP00000308620   ENSP00000436327   ENSP00000436895   ENSP00000432174  

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    Uscn Proteins for RAG2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--


    RAG2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAG2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011043 Gal_Oxase/kelch_b-propeller
     IPR004321 RAG2
     IPR025162 RAG2_PHD
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry P55895

    ProtoNet protein and cluster: P55895

    1 Blocks protein family: IPB004321 V-D-J recombination activating protein 2 (RAG2)

    UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895
    Domain: The atypical PHD-type zinc finger recognizes and binds histone H3 trimethylated on 'Lys-4' (H3K4me3). The
    presence Tyr-445 instead of a carboxylate in classical PHD-type zinc fingers results in an enhanced binding to H3K4me3
    in presence of dimethylated on 'Arg-2' (H3R2me2) rather than inhibited. The atypical PHD-type zinc finger also binds
    various phosphoinositides, such as phosphatidylinositol 3,4-bisphosphate binding (PtdIns(3,4)P2), phosphatidylinositol
    3,5-bisphosphate binding (PtdIns(3,5)P2), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and
    phosphatidylinositol 3,4,5-trisphosphate binding (PtdIns(3,4,5)P3) (By similarity)
    Similarity: Belongs to the RAG2 family
    Similarity: Contains 1 PHD-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895
    Function: Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J
    recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in
    developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J
    (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top
    strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on
    the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2
    blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions
    and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps.
    The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single
    immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor
    (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin
    allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing
    accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic
    component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of
    chromatin state that recruits the RAG complex to H3K4me3 (By similarity)

         Genatlas biochemistry entry for RAG2:
    recombination V(D)J activating gene 2,acting,in conjunction with RAG1,at a pair of recombination signal sequences and
    making double strand breaks,next to these signals,located 8kb apart from RAG1,convergently oriented

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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS--
    GO:0003682chromatin binding ISS--
    GO:0004519endonuclease activity NAS--
    GO:0005515protein binding ----
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding ISS--


    RAG2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RAG2:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for RAG2: Rag2tm1Libo Rag2tm1.1Cgn Rag2tm1Fwa Rag2tm1.1Flv
         15/19 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Rag2) (see all 19):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  normal 

    RAG2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1C-MYB transcription factor network
    C-MYB transcription factor network1.00
    2Primary immunodeficiency
    Primary immunodeficiency1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for RAG2 
        C-MYB transcription factor network


    1         Kegg Pathway  (Kegg details for RAG2):
        Primary immunodeficiency


    RAG2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for RAG2 (P558953 ENSP000003086204) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAG1P159183, ENSP000002994404I2D: score=3 STRING: ENSP00000299440
    SKP2Q133093, ENSP000002742554I2D: score=2 STRING: ENSP00000274255
    IPO5O004103, ENSP000002615744I2D: score=1 STRING: ENSP00000261574
    KPNA1P522943, ENSP000003437014I2D: score=1 STRING: ENSP00000343701
    PRF1P142223, ENSP000003167464I2D: score=1 STRING: ENSP00000316746
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002326B cell lineage commitment IEA--
    GO:0002331pre-B cell allelic exclusion ISS--
    GO:0002358B cell homeostatic proliferation IEA--
    GO:0002360T cell lineage commitment IEA--
    GO:0016445somatic diversification of immunoglobulins NAS--


    RAG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAG2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAG2
    6 Novoseek chemical compound relationships for RAG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytidine 41.5 4 16504994 (1), 15135294 (1), 17174398 (1), 17475920 (1)
    probenecid 14.8 2 8833898 (1), 9232432 (1)
    zinc 0 2 10820261 (1), 15094381 (1)
    serine 0 2 8493533 (1)
    caffeine 0 1 10681585 (1)
    dmso 0 1 11215815 (1)

    Search CenterWatch for drugs/clinical trials and news about RAG2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAG2 gene (3 alternative transcripts): 
    NM_000536.3  NM_001243785.1  NM_001243786.1  

    Unigene Cluster for RAG2:

    Recombination activating gene 2
    Hs.714519  [show with all ESTs]
    Unigene Representative Sequence: NM_001243786
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524423 ENST00000311485(uc021qgc.1 uc021qgd.1 uc001mwv.4)
    ENST00000529083 ENST00000527033 ENST00000532616 ENST00000534379 ENST00000528428
    ENST00000530276

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    Additional cDNA sequence: 

    AF080577.1 AK292664.1 BC022397.1 S78372.1 

    6 DOTS entries:

    DT.75178642  DT.91970703  DT.91660697  DT.120734403  DT.100783792  DT.120734378 

    17 AceView cDNA sequences:

    BM463455 BG389099 S78372 AF080577 AW629088 BQ421024 BE247400 NM_000536 
    BC022397 BG612991 BG503568 BM457214 BE247239 T25429 AW058148 BG387433 
    T25437 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGATGGGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RAG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAG2

    SOURCE GeneReport for Unigene cluster: Hs.714519

    UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895
    Tissue specificity: Cells of the B- and T-lymphocyte lineages

        SABiosciences Custom PCR Arrays for RAG2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAG2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RAG2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rag21 , 5 recombination activating gene 21, 5 87.54(n)1
    88.43(a)1
      2 (53.87 cM)5
    193741  NM_009020.31  NP_033046.11 
     1016247185 
    chicken
    (Gallus gallus)
    Aves RAG21 recombination activating gene 2 72.62(n)
    72.81(a)
      423165  XM_421091.2  XP_421091.2 
    lizard
    (Anolis carolinensis)
    Reptilia RAG26
    --
    69(a)
    1 ↔ 1
    1(53505734-53507305)
    zebrafish
    (Danio rerio)
    Actinopterygii rag21 recombination activating gene 2 57.7(n)
    51.91(a)
      30658  NM_131385.2  NP_571460.2 


    ENSEMBL Gene Tree for RAG2 (if available)
    TreeFam Gene Tree for RAG2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/169 NCBI SNPs in RAG2 are shown (see all 169    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219178951,2
    Cpathogenic64913702(-) TCCTGC/GCCCAC 6 C W mis10--------
    rs360017971,2
    C,Fpathogenic64913862(-) TCCATG/AGAGGG 6 /R /G mis14Minor allele frequency- A:0.00NA 4634
    rs356912921,2
    C,F,Hpathogenic64914223(-) TGACAA/C/TCATCT 9 N T I mis15NA NS 4806
    rs1219178941,2
    Cpathogenic64914265(-) TATCCA/GGCCTG 6 Q R mis10--------
    rs1219185751,2
    Cpathogenic64914931(-) GGATGC/GGCACT 6 A G mis10--------
    rs1485087541,2
    Cprobable-pathogenic64913683(+) GCCAGC/GCTTTT 6 A G mis11Minor allele frequency- G:0.00NA 4546
    rs118280161,2
    C,F,H,--36315906(+) TATTCA/GCTGGC 3 -- int119Minor allele frequency- G:0.05NA NS EA WA 1786
    rs1128087121,2
    C,--36315933(+) TAACTACAC/-  
            
    ACACA
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs122801461,2
    H,--36316125(+) GAGTAC/GTAAGT 3 -- int14Minor allele frequency- G:0.00NS EA 420
    rs37409561,2
    C,H,--36316542(+) CTTTAT/CTGGCT 3 -- ut31 ese32Minor allele frequency- C:0.00EA NS 1608

    HapMap Linkage Disequilibrium report for RAG2 (36597124 - 36619829 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RAG2
         1 CNV: 5274
    Human Gene Mutation Database (HGMD): RAG2

    Locus Specific Mutation Databases (LSDB): RAG2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAG2 for disorders           About GeneDecksing

    OMIM gene information: 179616   
    OMIM disorders: 601457  603554  233650  
    UniProtKB/Swiss-Prot: RAG2_HUMAN, P55895
  • Defects in RAG2 are a cause of combined cellular and humoral immune defects with granulomas (CHIDG)
  • [MIM:233650]. CHIDG is an immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs.
    Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on
    ultrasonography
  • Defects in RAG2 are a cause of severe combined immunodeficiency autosomal recessive
  • T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]. A form of severe combined
    immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized
    by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients
    present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types
    of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development
  • Defects in RAG2 are a cause of Omenn syndrome (OS) [MIM:603554]. OS is a severe immunodeficiency characterized
  • by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels

    20/30 diseases for RAG2 (see all 30):    About MalaCards
    severe combined immunodeficiency    omenn syndrome    combined immunodeficiency    combined cellular and humoral immune defects with granulomas
    immunodeficiency    anaplastic large cell lymphoma    artemis deficiency    infectious mononucleosis
    systemic lupus erythematosus    lupus erythematosus    ataxia telangiectasia    herpes simplex
    cutaneous t cell lymphoma    lymphopenia    was-related disorders    leukopenia
    multiple myeloma    tonsillitis    hepatitis b    conjunctivitis

    3 diseases from the University of Copenhagen DISEASES database for RAG2:
    Omenn syndrome     Severe combined immunodeficiency     Inflammatory bowel disease

    10/12 Novoseek disease relationships for RAG2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    omenn syndrome 92.6 16 10226883 (2), 11313270 (1), 11908269 (1), 15025726 (1) (see all 15)
    severe combined immunodeficiency 75.6 9 15025726 (1), 15845893 (1), 20128425 (1), 14726805 (1) (see all 9)
    immunodeficiency 35.5 10 10891502 (2), 1428003 (1), 11908269 (1), 15640693 (1) (see all 9)
    leukemia 20.9 2 12393742 (1), 15611260 (1)
    leukemia t-cell 15.7 1 17059760 (1)
    lymphoma 14.6 3 7873997 (1), 11279609 (1), 16982894 (1)
    autoimmune thyroid disease 11.5 1 8077352 (1)
    hodgkin disease 10.5 1 1450411 (1)
    tumors 4.3 9 11372175 (3), 18987320 (1), 8892673 (1), 19779066 (1) (see all 6)
    cancer 1.33 5 14521728 (1), 17174398 (1), 18682256 (1), 17475920 (1) (see all 5)

    Human Genome Epidemiology (HuGE) Navigator: RAG2 (7 documents)

    Export disorders for RAG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAG2 gene, integrated from 9 sources (see all 232):
    (articles sorted by number of sources associating them with RAG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of human recombination activating genes (RAG1 and RAG2) in neoplastic lymphoid cells: correlation with cell differentiation and antigen receptor expression. (PubMed id 1832998)1, 2, 9 Bories J.C.... Sigaux F. (1991)
    2. Sequence and chromosome assignment to 11p13-p12 of human RAG genes. (PubMed id 1428003)1, 2, 9 Ichihara Y.... Kurosawa Y. (1992)
    3. Human RAG2, like RAG1, is on chromosome 11 band p13 a nd therefore not linked to ataxia telangiectasia complementation groups. (PubMed id 1283330)1, 3, 9 Sherrington P.D....Rabbitts T.H. (1992)
    4. Partial V(D)J recombination activity leads to Omenn syndrome. (PubMed id 9630231)1, 2, 9 Villa A....Spanopoulou E. (1998)
    5. An immunodeficiency disease with RAG mutations and granulomas. (PubMed id 18463379)1, 2 Schuetz C....Niehues T. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. RAG mutations in human B cell-negative SCID. (PubMed id 8810255)1, 2 Schwarz K.... Bartram C.R. (1996)
    8. Overlapping signals for protein degradation and nuclear localization define a role for intrinsic RAG-2 nuclear uptake in dividing cells. (PubMed id 12861017)1, 9 Ross A.E....Desiderio S. (2003)
    9. RAG1 and RAG2 expression by B cell subsets from human tonsil and peripheral blood. (PubMed id 11123315)1, 9 Girschick H.J....Lipsky P.E. (2001)
    10. RAG1 and RAG2 expression in human intestinal epithelium: evidence of extrathymic T cell differentiation. (PubMed id 7774617)1, 9 Lynch S....O'Farrelly C. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5897 HGNC: 9832 AceView: RAG2 Ensembl:ENSG00000175097 euGenes: HUgn5897
    ECgene: RAG2 Kegg: 5897 H-InvDB: RAG2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAG2 Genetics and Cytogenetics in Oncology and Haematology
    RAG2basehttp://bioinf.uta.fi/RAG2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAG2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAG2 gene:
    Search GeneIP for patents involving RAG2

    GeneCards and IP:
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