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TRB (T cell Receptor Beta)

Identity

HGNC (Hugo) TRB@
Location 7q35
Location_base_pair Starts at 141612136 and ends at 142293599 bp from pter
 
  for complete Figure, see: chromosome 7, IMGT (The International ImMunoGeneTics information system ® ) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Note The human TRB locus is located on chromosome 7 on the long arm, at band 7q35. The orientation of the locus has been determined by the analysis of translocations, involving the TRB locus, in leukemia and lymphoma

DNA/RNA

 
  TRB
V-GENE: Green box: Functional; Yellow box: Open reading frame; Red: Pseudogene.
D-GENE: Blue: Functional.
J-GENE: Grey: Functional .
C-GENE: Blue: Functional.
GENES NOT RELATED: Purple: Functional; Purple open box: Pseudogene.
for complete Figure, see: locus TRB, IGMT (The international ImMunoGeneTics information systemŽ) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Description
  • The human TRB locus at 7q35 spans 620 kb. It consists of 64-67 TRBV genes belonging to 32 subgroups.
  • Except for TRBV30, localized downstream of the TRBC2 gene, in inverted orientation of transcription, all the other TRBV genes are located upstream of a duplicated D-J-C-cluster, which comprises, for the first part one TRBD, six TRBJ, and the TRBC1 gene, and for the second part, one TRBD, eight TRBJ, and the TRBC2 gene.
  • The most 5' TRBV genes occupy the most centromeric position, whereas the TRBV30 gene, 3' of the locus, is the most telomeric gene in the TRB locus.
  • The potentiel repertoire consists of 39-46 functional TRBV genes belonging to 21-23 subgroups, the two TRBD, thirteen TRBJ (6 from the first cluster and 7 from the second cluster), and the two TRBC genes.
  • Six TRBV orphons have been localized on chromosome 9 at 9p21. Enhancer sequences have been characterized 5.5kb 3' from TRBC2.
  • List of the human TRB genes
  • Protein

    Description
  • Proteins encoded by the TRB locus are the T cell receptor beta chains. They result from the recombination (or rearrangement), at the DNA level, of three genes: TRBV, TRBD and TRBJ, with deletion of the intermediary DNA to create a rearranged TRBV-D-J gene. The rearranged TRBV-D-J gene is transcribed with one of the two TRBC genes and translated into a T cell receptor beta chain.
  • Translation of the variable germline genes involved in the TRBV-D-J rearrangements are available at IMGT Repertoire Protein displays. TRB V-D-J rearrangements can be analysed using the IMGT/V-QUEST tool.
  • Mutations

    Note Mutations which correspond to allelic polymorphisms of the functional germline TRBV, TRBD, TRBJ and TRBC genes are described in the IMGT database: (IMGT Repertoire>Alignments of alleles)

    Implicated in

    Entity Translocations which frequently result from errors of the recombinase enzyme complexe (RAG1, RAG2, etc.), responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. TRBV, TRBD or TRBJ recombination signals or isolated heptamer are frequently observed at the breakpoints
      
    Entity t(1;7)(p34;q35); involve LCK in 1p34
    Disease T-cell acute lymphocytic leukemia (ALL)
      
    Entity t(1;7)(p32;q35); involve TAL1 in 1p32
    Disease T-cell acute lymphocytic leukemia (ALL)
    Prognosis median survival > 5 yrs in children
      
    Entity t(7;9)(q35;q32); involve TAL2 in 9q32
    Disease T-cell acute lymphocytic leukemia (ALL)
      
    Entity t(7;9)(q35;q34); involve TAN1 in 9q34
    Disease T-cell acute lymphocytic leukemia (ALL)
      
    Entity t(7;10)(q35;q24); involve HOX11 in 10q24
    Disease T- cell acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL)
    Prognosis not unfavourable
      
    Entity t(7;11)(q35;p13); involve RBTN2 in 11p13
    Disease T-cell acute lymphocytic leukemia (ALL)
      
    Entity t(7;14)(q35;q32); involve TCL1 in 14q32
    Disease T-cell lymphoproliferations
      
    Entity t(7;19)(q35;p13); involve LYL1 in 19p13
    Disease T-cell acute lymphoblastic leukemia (ALL)
      

    Breakpoints

     

    External links

    Nomenclature
    HGNC (Hugo)TRB@   12155
    Entrez_Gene (NCBI)TRB@  6957  T cell receptor beta locus
    Cards
    AtlasTCRBID24
    GeneCards (Weizmann)TRB@
    Ensembl (Hinxton)ENSG00000124678 [Gene_View]  TRB@ [Vega]
    AceView (NCBI)TRB@
    Genatlas (Paris)TRB@
    euGene (Indiana)6957
    SOURCE (Stanford)
    Genomic and cartography
    GoldenPath (UCSC)TRB@  -  7q35   chr7:141612136-142293599 7q34  hg18-Mar_2006   [Description]    ()
    EnsemblTRB@ - hg18-Mar_2006 [CytoView]
    Mapping of homologs : NCBITRB@ [Mapview]
    OMIM186930   
    Gene and transcription
    Gene : Genbank (Entrez)-
    Reference sequence (RefSeq transcript) :SRS
    Reference transcript : Entrez
    RefSeq genomic : SRSAC_000068 NC_000007 NG_001333 NG_008307 NG_008322 NT_007914 NT_079596
    RefSeq genomic : EntrezAC_000068 NC_000007 NG_001333 NG_008307 NG_008322 NT_007914 NT_079596
    Consensus coding sequences : CCDS NCBITRB@
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtP04435 (SRS) P04435 (Expasy) P04435 (Uniprot)
    With graphics : InterProP04435
    Splice isoforms : VarSplice FASTAP04435(VarSplice FASTA)
    Domaine pattern : Prosite (SRS)IG_LIKE (PS50835)   
    Domain pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
    Domains : Interpro (SRS)Ig-like    Ig-like_fold    Ig_sub    Ig_V-set   
    Domains : Interpro (EBI)Ig-like    Ig-like_fold    Ig_sub    Ig_V-set   
    Related proteins : CluSTrP04435
    Domain families : Pfam SRSV-set (PF07686)   
    Domain families : Pfam SangerV-set (PF07686)   
    Domain families : Pfam NCBIpfam07686   
    Domain families : Smart EMBLIG (SM00409)
    Blocks (Seattle)P04435
    Crystal structure of protein : PDB SRS
    Crystal structure of protein : PDBSum
    Crystal structure of protein : IMB
    Crystal structure of protein : PDB RSDB
    Protein Interaction databases
    DIP (DOE-UCLA)P04435
    IntAct (EBI)P04435
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBITRB@
    SNP : GeneSNP UtahTRB@
    SNP : HGBaseTRB@
    Genetic variants : HAPMAPTRB@
    Mutations and Diseases : HGMDTRB@
    Hereditary diseases : OMIM186930   
    Hereditary diseases : GENETests186930   
    Diseases : Genetic AssociationTRB@
    General knowledge
    Homologs : HomoloGeneTRB@
    Homology/Alignments : Family Browser UCSCTRB@
    Phylogenetic Trees/Animal Genes : TreeFamTRB@
    Chemical/Protein Interactions : CTD6957
    Keywords Ontology : AmiGOreceptor activity  plasma membrane  plasma membrane  immune response  MHC protein binding  peptide antigen binding  
    Keywords Ontology : EGO-EBIreceptor activity  plasma membrane  plasma membrane  immune response  MHC protein binding  peptide antigen binding  
    Pathways : BIOCARTA
    Pathways : KEGG
    Other databases
    Other databaseTRB@ - IMGT
    Probes
    Probes : ImagenesTRB@ Related clones (RZPD - Berlin)
    Literature
    PubMed57 Pubmed reference(s) in Entrez
    PubGeneTRB@

    Bibliography

    Nomenclature of the human T cell Receptor genes (Review)
    Lefranc MP
    Current Protocols in Immunology. 2000.
     
    The T cell Receptor FactsBook (Review)
    Lefranc MP and Lefranc G
    Academic Press, London, UK (. 1939.
     
    Locus Map and Genomic repertoire of the Human Immunoglobulin Genes (Review)
    Lefranc MP
    The immunologist,. 2000.
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    Contributor(s)

    Written07-2000Marie-Paule Lefranc
    Updated09-2003Marie-Paule Lefranc

    Citation

    This paper should be referenced as such :
    Lefranc MP . TRB (T cell Receptor Beta). Atlas Genet Cytogenet Oncol Haematol. July 2000 .
    URL : http://AtlasGeneticsOncology.org/Genes/TCRBID24.html
    Lefranc MP . TRB (T cell Receptor Beta). Atlas Genet Cytogenet Oncol Haematol. September 2003 .
    URL : http://AtlasGeneticsOncology.org/Genes/TCRBID24.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sat Jun 27 16:42:18 CEST 2009

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