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FLASH GENE
Symbol TBX19 contributors: mct - updated : 25-04-2012
HGNC name T-box 19
HGNC id 11596
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal DNA binding domain (T-box)
  • HOMOLOGY
    interspecies homolog to murine T-box gene Tbx19 (Tbrachyury)
    homolog to chicken TbxT
    Homologene
    FAMILY T box family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in differentiation of the pituitary POMC lineage and in activation of POMC promoter sinergistically with PITX1
  • T-box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells
  • corticotroph-specific transcription factor
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • activating POMC
  • coordinate expression of ETV1 with POMC cell differentiation and its interaction with the highly cell-restricted TBX19 factor indicate that ETV1 participates in a combinatorial code for pituitary cell-specific gene expression
  • PAX7 acts by remodeling chromatin and allowing TBX19 binding to a new subset of enhancers for activation of melanotrope-specific genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACTHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • target autoantigen in 10.5p100 of patients with lymphocytic hypophysitis
  • Therapy target
    ANIMAL & CELL MODELS