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FLASH GENE
Symbol TBX18 contributors: mct/npt - updated : 15-09-2015
HGNC name T-box 18
HGNC id 11595
Corresponding disease
CAKUT2 congenital anomalies of the kidney and urinary tract-2
Location 6q14.3      Physical location : 85.444.156 - 85.473.899
Synonym name T-box transcription factor TBX18
DNA
TYPE functioning gene
STRUCTURE 29.74 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • distal enhancer element, ECR1, which is active in developing urogenital and other tissues, and disruption of this element leads to premature loss of TBX18 function
    • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4070 64.7 607 - 2008 18644785
    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)