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FLASH GENE
Symbol T contributors: mct - updated : 29-12-2016
HGNC name T, brachyury homolog (mouse)
HGNC id 11515
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • large N terminal DNA binding domain (T-box)
  • two pairs of transactivation and repression domains in the C terminus
    • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine T (91.7pc)
    homolog to rattus T (92.2pc)
    Homologene
    FAMILY
  • brachyury protein family
    • CATEGORY DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in the transcription regulation of genes required for mesoderm formation and differentiation
  • nuclear transcription factor that binds to a specific DNA element, the palindromic T-site
  • may be a tumor suppressor gene in lung cancer
  • TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb
    • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • mesoderm development
  • determination of anterior/posterior axis, embryo
    • PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA binding to palindromic T-site
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by methylation of the promoter in 80pc of primary lung adenocarcinoma
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    low expressed in lung tumors
    Susceptibility
  • to spina-bifida (OMIM 182940)
  • to familial chordoma
    • Variant & Polymorphism SNP , other
  • TIVS7 T/C associated with the risk of spina-bifida
  • duplication in familial chordoma (Yang 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic null allele mice (Abe, 2000)