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TRD@ (T cell Receptor Delta)

Identity

Other namesTRD (T cell Receptor Delta)
HGNC (Hugo) TRD@
Location 14q11.2
Location_base_pair Starts at 21961571 and ends at 22001823 bp from pter ( according to hg18-Mar_2006)
 
  for complete Figure, see: chromosome 14, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Note The TRD locus is embedded in the TRA locus, between the TRAV and TRAJ genes. The orientation of the locus has been determined by the analysis of translocations, involving the TRD locus, in leukemia and lymphoma

DNA/RNA

 
  TRA/TRD
V-GENE: Green box: Functional; Red: Pseudogene.
D-GENE: Blue: Functional.
J-GENE: Yellow: Functional; Pale yellow: Open reading frame; Red: Pseudogene.
C-GENE: Blue: Functional.
for complete Figure, see: locus TRD, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Description
  • The human TRD locus at 14q11.2 comprises a cluster of one TRDV gene (TRDV2), three TRDD segments, and four TRDJ segments, upstream of the unique TRDC gene; another TRDV gene (TRDV3) is localized downstream of the TRDC gene, in inverted orientation of transcription.
  • This cluster spans 60 kb and is localized inside the TRA locus, between the TRAV genes and the TRAJ segments. One TRDV gene (TRDV1) is localized at 360 kb upstream of the TRDC gene, among the TRAV genes. Five variable genes have been found rearranged to both (D)J segments of the TRD locus and TRAJ segments, and can therefore be used for the synthesis of both delta and alpha chains. These genes are described as TRAV/DV.
  • The TRDV genes are unique members of different subgroups. All the TRD genes are functional, with the exception of one TRAV/DV, which has been found either functional or as a pseudogene.
  • Enhancer sequences have been described between the TRDJ3 and the TRDC gene.
  • List of the human TRD genes

    • Protein

    Description
  • Proteins encoded by the TRD locus are the T cell receptor delta chains. They result from the recombination (or rearrangement), at the DNA level, of three genes: TRDV, TRDD and TRDJ, with deletion of the intermediary DNA to create a rearranged TRDV-D-J gene. The rearranged TRDV-D-J gene is transcribed with the TRDC gene and translated into a T cell receptor delta chain.
  • Translation of the variable germline genes involved in the TRDV-D-J rearrangements are available at IMGT Repertoire Protein displays. TRD 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 TRDV, TRDD, TRDJ and TRDC 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. TRDV, TRDD or TRDJ recombination signals or isolated heptamer are frequently observed at the breakpoints.
      
    Entity t(1;14)(p32;q11); involve TAL1 in 1p32
    Prognosis median survival > 5 yrs in children
      
    Entity t(8;14)(q24;q11); involve MYC in 8q24
    Disease T-cell acute lymphocytic leukemia (ALL); rare
      
    Entity t(10;14)(q24;q11); involve HOX11 in 10q24
    Disease T- cell acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL)
    Prognosis not unfavourable
      
    Entity t(11;14)(p13;q11); involve RBTN2 in 11p13
    Disease T-cell acute lymphocytic leukemia (ALL)
      
    Entity t(11;14)(p15;q11); involve RBTN1 in 11p15
    Disease T-cell Acute lymphocytic leukemia (ALL)
      
    Entity t(14;14)(q11;q32), inv(14)(q11q32); involve TCL1 in 14q32
    Disease T-cell prolymphocytic leukemia (T-PLL) and adult T cell leukemia/lymphoma
    Prognosis poor
      

    Breakpoints

     

    External links

    Nomenclature
    HGNC (Hugo)TRD@   12252
    Entrez_Gene (NCBI)TRD@  6964  T cell receptor delta locus
    Cards
    AtlasTCRDID279
    GeneCards (Weizmann)TRD@
    Ensembl (Hinxton)ENSG00000124678 [Gene_View]  TRD@ [Vega]
    AceView (NCBI)TRD@
    Genatlas (Paris)TRD@
    euGene (Indiana)6964
    SOURCE (Stanford)
    Gene Expression (Array Express) ENSG00000124678
    Genomic and cartography
    GoldenPath (UCSC)TRD@  -  14q11.2   chr14:21961571-22001823 +  14q11.2   [Description]    (hg18-Mar_2006)
    EnsemblTRD@ - 14q11.2 [CytoView]
    Mapping of homologs : NCBITRD@ [Mapview]
    OMIM186810   
    Gene and transcription
    Gene : Genbank (Entrez)AF512436 AF512438 AF512442 AJ583013 AK301085
    Reference sequence (RefSeq transcript) :SRS
    Reference transcript : Entrez
    RefSeq genomic : SRSNC_000014 NG_001332 NT_026437
    RefSeq genomic : EntrezNC_000014 NG_001332 NT_026437
    Consensus coding sequences : CCDS NCBITRD@
    Cluster EST : UnigeneHs.713514 [ SRS ] Hs.713514 [ NCBI ]
    Protein : pattern, domain, 3D structure
    Domain families : Pfam SRS
    Domain families : Pfam Sanger
    Domain families : Pfam NCBI
    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
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBITRD@
    SNP : GeneSNP UtahTRD@
    SNP : HGBaseTRD@
    Genetic variants : HAPMAPTRD@
    Cancer Gene: CensusTRD@ 
    Mutations and Diseases : HGMDTRD@
    Hereditary diseases : OMIM186810   
    Hereditary diseases : GENETests186810   
    Diseases : Genetic AssociationTRD@
    General knowledge
    Homologs : HomoloGeneTRD@
    Homology/Alignments : Family Browser UCSCTRD@
    Phylogenetic Trees/Animal Genes : TreeFamTRD@
    Chemical/Protein Interactions : CTD6964
    Keywords Ontology : AmiGO
    Keywords Ontology : EGO-EBI
    Pathways : BIOCARTA
    Pathways : KEGG
    Other databases
    Other databaseTRD@ - IMGT
    Probes
    ProbeProbes IMGT
    Probes : ImagenesTRD@ Related clones (RZPD - Berlin)
    Literature
    PubMed29 Pubmed reference(s) in Entrez
    PubGeneTRD@

    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 . TRD@ (T cell Receptor Delta). Atlas Genet Cytogenet Oncol Haematol. July 2000 .
    URL : http://AtlasGeneticsOncology.org/Genes/TCRDID279.html
    Lefranc MP . TRD@ (T cell Receptor Delta). Atlas Genet Cytogenet Oncol Haematol. September 2003 .
    URL : http://AtlasGeneticsOncology.org/Genes/TCRDID279.html

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    indexed on : Sat Feb 27 10:53:04 CET 2010
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