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FLASH GENE
Symbol TBX18 contributors: mct/npt - updated : 15-09-2015
HGNC name T-box 18
HGNC id 11595
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
 heartventricle    Homo sapiensFetal
Hearing/Equilibriumear    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte Homo sapiens
Muscularmyocyte Mus musculusFetal
not specificchondrocyte Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region with a nuclear localization signal (NLS), and DNA binding domain (T-box)
  • an engrailed homology-1 motif (EH1), that mediates transcriptional repression by binding to the WD40 domain of Groucho/TLE transcriptional corepressors
  • HOMOLOGY
    interspecies homolog to murine T-box gene Tbx18 (T,brachyury)
    Homologene
    FAMILY
  • T-box family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transcriptional regulator involved in developmental processes
  • involved in the formation of the vertebral column, the ureter, and the posterior pole of the heart
  • required for the formation of the venous pole of the heart from an NKX2-5-negative precursor population
  • functions as a transcriptional repressor by forming homo- or heterodimers with other T-box proteins or with other families of transcription factors
  • directly represses the GJA1 promoter
  • represses GJA1 transcription and thus reduces its protein level, without affecting other connexins
  • its expression recapitulates at least some cardinal features of the sinoatrial node
  • is dispensable for epicardial development, yet a repressive T-box function may be required to prevent premature smooth muscle cell differentiation by repressing transforming growth factor beta receptor and Notch signalling in the embryonic epicardium
  • potential function of Tbx18 in maintaining the progenitor status of epicardial-derived cells
  • is essential for normal development of vasculature network and glomerular mesangium in the mammalian kidney (pMID: 24727670)
  • performs a vital role in development of multiple organ systems
  • temporal suppression of TBX18 gene expression by the hypermethylation of its promoter seems to trigger the differentiation of mesenchymal cells into hypertrophic chondrocytes in the early stages of endochondral ossification
  • is essential for developmental specification of the ureteric mesenchyme and ureteric smooth muscle cells
  • TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb
  • TBX18 and other members of the T-box gene family, namely, TBX1, TBX2, TBX3, and TBX20, play additional roles in development and homeostasis of other components of the excretory system
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • interacts with GATA4 and NKX2-5 and competes TBX5-mediated activation of the cardiac natriuretic peptide precursor type a-promoter
  • cooperates with the PAX3 in maintaining anterior somite half identity (the two proteins cooperatively regulate the gene expression program necessary for maintaining anterior-posterior somite polarity)
  • SIX1 and TBX18 genetically interact to synergistically regulate smooth muscle cells development and ureter function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAKUT2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice homozygous for a null allele of Tbx18 show hydroureter and hydronephrosis (pMID: 26235987)