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    RAG2 recombination activating gene 2 [ Homo sapiens (human) ]

    Gene ID: 5897, updated on 3-Apr-2016
    Official Symbol
    RAG2provided by HGNC
    Official Full Name
    recombination activating gene 2provided by HGNC
    Primary source
    HGNC:HGNC:9832
    See related
    Ensembl:ENSG00000175097 HPRD:08913; MIM:179616; Vega:OTTHUMG00000166393
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAG-2
    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. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11p13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (36591943..36598279, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36613493..36619829, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene TNF receptor associated factor 6 Neighboring gene recombination activating gene 1 Neighboring gene chromosome 11 open reading frame 74 Neighboring gene transforming acidic coiled-coil containing protein 3 pseudogene Neighboring gene uncharacterized LOC105376631

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of recombination activating gene 2 (RAG2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
      MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
    • MAPK6/MAPK4 signaling, organism-specific biosystem (from REACTOME)
      MAPK6/MAPK4 signaling, organism-specific biosystemMAPK6 and MAPK4 (also known as ERK3 and ERK4) are vertebrate-specific atypical MAP kinases. Atypical MAPK are less well characterized than their conventional counterparts, and are generally classifi...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    methylated histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    B cell homeostatic proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    B cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    T cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    V(D)J recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    pre-B cell allelic exclusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    V(D)J recombination-activating protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007573.1 RefSeqGene

      Range
      4958..11294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_99

    mRNA and Protein(s)

    1. NM_000536.3NP_000527.2  V(D)J recombination-activating protein 2

      See identical proteins and their annotated locations for NP_000527.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 3 and 4 encode the same protein.
      Source sequence(s)
      AK292664, AW058148, BC022397, DB146077
      Consensus CDS
      CCDS7903.1
      UniProtKB/Swiss-Prot
      P55895
      Related
      ENSP00000308620, OTTHUMP00000232776, ENST00000311485, OTTHUMT00000389536
      Conserved Domains (2) summary
      pfam03089
      Location:51389
      RAG2; Recombination activating protein 2
      cd15569
      Location:415481
      PHD_RAG2; PHD finger found in V(D)J recombination-activating protein 2 (RAG-2) and similar proteins
    2. NM_001243785.1NP_001230714.1  V(D)J recombination-activating protein 2

      See identical proteins and their annotated locations for NP_001230714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same protein.
      Source sequence(s)
      AK292664, AW058148, BC022397, DB124002, DB146077
      Consensus CDS
      CCDS7903.1
      UniProtKB/Swiss-Prot
      P55895
      Conserved Domains (2) summary
      pfam03089
      Location:51389
      RAG2; Recombination activating protein 2
      cd15569
      Location:415481
      PHD_RAG2; PHD finger found in V(D)J recombination-activating protein 2 (RAG-2) and similar proteins
    3. NM_001243786.1NP_001230715.1  V(D)J recombination-activating protein 2

      See identical proteins and their annotated locations for NP_001230715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate exon in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same protein.
      Source sequence(s)
      AC139427, AK292664, AW058148, BC022397, DB143931, DB146077
      Consensus CDS
      CCDS7903.1
      UniProtKB/Swiss-Prot
      P55895
      Related
      ENSP00000478672, ENST00000618712
      Conserved Domains (2) summary
      pfam03089
      Location:51389
      RAG2; Recombination activating protein 2
      cd15569
      Location:415481
      PHD_RAG2; PHD finger found in V(D)J recombination-activating protein 2 (RAG-2) and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      36591943..36598279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      36612179..36618515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_033666.1: Suppressed sequence

      Description
      NR_033666.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.