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FLASH GENE
Symbol TBX6 contributors: mct - updated : 22-02-2013
HGNC name T-box 6
HGNC id 11605
Corresponding disease
DEL16P112P chromosome 16p11.2 proximal microdeletion,~600kb, autism associated
Location 16p11.2      Physical location : 30.097.116 - 30.103.205
Synonym name
  • T-box protein 6
  • T-box transcription factor TBX6
  • Synonym symbol(s) DFNB67
    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