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FLASH GENE
Symbol TBX6 contributors: mct - updated : 22-02-2013
HGNC name T-box 6
HGNC id 11605
DNA
TYPE functioning gene
STRUCTURE 6.09 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1830 47 436 - 1999 9888994
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Reproductivemale systemtestis   
Respiratorylung    
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text gastrulation, fetal tail bud, posterior spinal tissue, intervertebral disk and testis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal DNA binding domain (T-box)
  • HOMOLOGY
    interspecies homolog to murine Tbx6 (87.8pc)
    homolog to rattus Tbx6 (87.4pc)
    Homologene
    FAMILY
  • T box family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in paraxial mesoderm formation and somitogenesis
  • probable transcriptional regulator involved in developmental processes
  • could be required for specification of paraxial mesoderm structures during gastrulation
  • controls the expression of MESP2, which encodes a basic helix-loop-helix transcription factor that has crucial roles in somitogenesis
  • represses SOX2 by inactivating enhancer N1 to inhibit neural development, and this is an essential step for the specification of paraxial mesoderm from the axial stem cells
  • required for cardiac myocyte differentiation and represses neural differentiation
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text
  • mesoderm
  • morphogenesis
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • interacting with SMAD6 (Chen 2009)
  • RIPPLY1, RIPPLY2 are direct regulators of the TBX6 protein level for the establishment of intersomitic boundaries
  • RIPPLY2 represses TBX6 in a MESP2-independent manner, which contributes to the accurate segmental border formation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL16P112P
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS