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FLASH GENE
Symbol TBX20 contributors: mct/npt/pgu - updated : 04-08-2015
HGNC name T-box 20
HGNC id 11598
Corresponding disease
ASD4 atrial septal defects 4
Location 7p14.2      Physical location : 35.242.042 - 35.293.711
Synonym name
  • T-box transcription factor TBX20
  • neuromancer
  • Synonym symbol(s) NMR, ASD4
    DNA
    TYPE functioning gene
    STRUCTURE 51.20 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • BMP10 was able to induce TBX20 promoter activity through a conserved Smad binding site in the promoter proximal region
  • MAPPING cloned Y linked N status provisional
    Map pter - D7S656 - D7S497 - TBX20 - D7S2704 - D7S484 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1824 50 445 restricted to the developing outflow tract with less myocardial expression 2011 21856288
  • TBX20a
  • exons 16, 9, and 10
  • localized exclusively in the nucleus
  • 6 - 1374 33 297 - 2011 21856288
  • TBX20b, with a cytoplasmic and nuclear localization
  • truncated after the T-box DNA-binding domain at 297 aa due to alternative splicing of exon 7 which contains a termination codon
  • MKLN1 is a novel interacting partner to TBX20b
  • can activate transcription more effectively than the longer isoform
  • TBX20b and MKLN1 colocalize in the perinuclear cytoplasm
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendocardium   Homo sapiens
    Muscularstriatumcardiacmyocardium  Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text heart, eye, limb, skin, in cardiac progenitor cells, as well as in the developing myocardium and endothelial cells associated with endocardial cushions
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large N terminal DNA binding domain (T box)
  • HOMOLOGY
    interspecies homolog to Drosophila H15
    Homologene
    FAMILY
  • T-box family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • probable transcriptional regulator involved in developmental processes
  • acts in a conserved regulatory network, guiding heart formation and patterning
  • may be involved in the development of cardiomyopathy
  • acts within a hierarchy of T-box factors in lineage specification and morphogenesis in the mammalian heart and is mutated in congenital heart disease
  • critical cardiogenic transcription factor important for proliferation, chamber specification, and valvulogenesis
  • has essential roles in regulating atrioventricular canal development that coordinate early cardiac chamber formation
  • dual role for TBX20 as both a transcriptional activator and a repressor, and each of these functions regulates genes with very specialized and distinct molecular roles
  • TBX20 regulates adult cardiomyocyte structure and function
  • 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
  • TBX20 can be considered a KCNH2-modifying gene
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
  • BMP10-TBX20 signaling cascade is important for ventricular wall development and maturation
  • a component
    INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • TBX5 (co-expressed in the heart-forming region but then become differentially expressed as heart morphogenesis progresses)
  • directly interferes with Bmp/Smad signaling to suppress TBX2 expression in the chambers, thereby confining TBX2 expression to the prospective atrioventricular canal region
  • interacts with other cardiac developmental transcription factors, including GATA4, GATA5
  • synergistic interactions between TBX20 and other cardiac transcription factors, including tinman/Nkx25, in regulating cardiac performance, rhythmicity, and cardiomyocyte structure
  • interacting with muskelin (MKLN1), a primarily cytoplasmic protein with potential roles in signal transduction machinery scaffolding and nucleocytoplasmic protein shuttling
  • is an activator of genes responsible for ion transport/contraction
  • PPARG may be an important TBX20 co-factor activating energy metabolism genes in the adult heart while REST, a known transcriptional repressor, may act with TBX20 to silence genes controlling genetic programs unrelated to adult heart function
  • TBX20 is a novel transcription factor regulating angiogenesis through the PROK2-PROKR1 (prokineticin receptor 1) pathway in both development and disease
  • cell & other
    REGULATION
    induced by by bone morphogenetic protein-2
    ASSOCIATED DISORDERS
    corresponding disease(s) ASD4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    associated with a complex spectrum of developmental and functional abnormalities, including defects in septation, valvulogenesis, and chamber growth and dilated cardiomyopathy
    constitutional germinal mutation      
    also associated with ASD and mitral valve disease
    constitutional     --over  
    in ventricular tissue from CHD patients which may cause an increased activity in cardiomyocytes
    constitutional germinal mutation     gain of function
    is associated with congenital atrial septal defects, patent foramen ovale and cardiac valve defects
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tbx20 null mouse embryos display hypoplastic hearts and die at mid-gestation