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Symbol TBX18 contributors: mct/npt - updated : 15-09-2015
HGNC name T-box 18
HGNC id 11595
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
    Physical map
    IBTK 6q14.3 inhibitor of Bruton agammaglobulinemia tyrosine kinase TPBG 6q14-q15 trophoblast glycoprotein C6orf157 6q15 chromosome 6 open reading frame 157 KIAA1117 6q15 chromosome 6 open reading frame 157 PGM3 6q14.1-q15 phosphoglucomutase 3 RWDD2 6q15 RWD domain containing 2 ME1 6q12 malic enzyme 1, NADP(+)-dependent, cytosolic C6orf158 6q15 chromosome 6 open reading frame 158 SNAP91 6q13 synaptosomal-associated protein, 91kDa homolog (mouse) C6orf159 6q15 chromosome 6 open reading frame 159 NCB5OR 6pter-q22.33 NADPH cytochrome B5 oxidoreductase C6orf117 6q14.3 chromosome 6 open reading frame 117 C6orf84 6pter-q16.1 chromosome 6 open reading frame 84 LOC346033 6q15 similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1 TBX18 6p14-q15 T-box 18 LOC391946 6 similar to ribosomal protein L31 LOC391947 6 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC391948 6 similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) NT5E 6q14-q15 5'-nucleotidase, ecto (CD73) SNX14 6q15 sorting nexin 14 SYNCRIP 6q14-q15 synaptotagmin binding, cytoplasmic RNA interacting protein LOC389414 6 LOC389414 LOC391949 6 similar to 60S ribosomal protein L7 LOC134686 6q15 similar to NADH-ubiquinone oxidoreductase 13 kDa-B subunit (Complex I-13Kd-B) (CI-13Kd-B) (Complex I subunit B13) HTR1E 6q14-q15 5-hydroxytryptamine (serotonin) receptor 1E CGA 6q12-q21 glycoprotein hormones, alpha polypeptide LOC391950 6 similar to Reticulocalbin 1 precursor LOC389415 6 LOC389415 ZNF292 6q15 zinc finger protein 292 GJB7 6q15 gap junction protein, beta 7 C6orf162 6q15-q16.1 chromosome 6 open reading frame 162 C6orf163 6q15 chromosome 6 open reading frame 163 C6orf165 6q15 chromosome 6 open reading frame 165 TAF13P 6q14.3-15 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4070 64.7 607 - 2008 18644785
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
     heartventricle    Homo sapiensFetal
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    Muscularmyocyte Mus musculusFetal
    not specificchondrocyte Mus musculus
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
  • 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
    interspecies homolog to murine T-box gene Tbx18 (T,brachyury)
  • T-box family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding through T-box
    small molecule
  • 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
    corresponding disease(s) CAKUT2
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • mice homozygous for a null allele of Tbx18 show hydroureter and hydronephrosis (pMID: 26235987)