Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    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
    Physical map
    LOC340351 7q33 hypothetical protein LOC340351 LOC392653 7 similar to RIKEN cDNA 9330128H10 gene LOC392992 7 similar to RING finger protein 14 (Androgen receptor-associated protein 54) (Triad2 protein) (HFB30) (HRIHFB2038) FLJ11000 7q33 hypothetical protein FLJ11000 MGC5242 7q33 hypothetical protein MGC5242 KIAA1466 7q33 KIAA1466 protein HSPC049 7q33 HSPC049 protein LOC346673 7q33 STRA8 LOC392993 7 similar to CG6293-PA KIAA0877 7p14.3-p14.2 KIAA0877 protein CNOT4 7q33 CCR4-NOT transcription complex, subunit 4 LOC389478 7 similar to RIKEN cDNA 9330128H10 gene LOC392654 7 similar to hypothetical protein FLJ32949 LOC392994 7 hypothetical gene supported by AK075360; NM_003002 LOC392655 7 similar to hypothetical protein FLJ32949 NUP205 7q33 nucleoporin 205kDa TBX20 7p15-p14 T-box 20 KIAA0877 7p14.3-p14.2 KIAA0877 protein LOC392995 7 similar to 60S ribosomal protein L15 SLC13A4 7q33 solute carrier family 13 (sodium/sulfate symporters), member 4 LOC392794 7 similar to HWKM1940 LOC222128 7p14.2 similar to hypothetical protein FLJ32949 LOC389479 7 similar to hypothetical protein FLJ32949 MTPN 7q33-q35 myotrophin TBX20 7p15-p14 T-box 20 FLJ22313 7p14.2 hypothetical protein FLJ22313 CDC10 7p14.3-p14.1 CDC10 cell division cycle 10 homolog (S. cerevisiae) LOC392884 7 similar to cell division cycle 10 homolog FLJ22313 7p14.2 hypothetical protein FLJ22313 KIAA1706 7p14 KIAA1706 protein CDC10 7p14.3-p14.1 CDC10 cell division cycle 10 homolog (S. cerevisiae) LOC392014 7 similar to cell division cycle 10 homolog KIAA0895 7p14.1 KIAA0895 protein LOC392996 7 similar to protease (prosome, macropain) 26S subunit, ATPase 1 ANLN 7p15-p14 anillin, actin binding protein (scraps homolog, Drosophila) KIAA1706 7p14 KIAA1706 protein AOAH 7p14-p12 acyloxyacyl hydrolase (neutrophil)
    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
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendocardium   Homo sapiens
    Muscularstriatumcardiacmyocardium  Homo sapiens
    cell lineage
    cell lines
    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
  • a large N terminal DNA binding domain (T box)
    interspecies homolog to Drosophila H15
  • T-box family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
  • BMP10-TBX20 signaling cascade is important for ventricular wall development and maturation
  • a component
    DNA binding through T-box
    small molecule
  • 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
  • cell & other
    induced by by bone morphogenetic protein-2
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • Tbx20 null mouse embryos display hypoplastic hearts and die at mid-gestation