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FLASH GENE
Symbol TBX2 contributors: mct/pgu - updated : 29-08-2016
HGNC name T-box 2
HGNC id 11597
RNA
TRANSCRIPTS type messenger
text multiple transcripts 2 to 4 kb at least due to alternative polyadenylation
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 3396 74.9 712 - 1998 9434949
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen    
Reproductivemale systemprostate   
Respiratorylung   highly
Urinarybladder   highly
 kidney   highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentmelanocyte
cell lineage
cell lines melanoma cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text
  • placenta, lung
  • specifically expressed around three distinct components of the pronephric nephron: the tubule, duct and glomus
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large N-terminal T-box DNA-binding domain
  • HOMOLOGY
    interspecies homolog to rattus TBX2 (91.6 pc)
    homolog to murine Tbx2 (95.6 pc)
    Homologene
    FAMILY
  • T-box family
  • CATEGORY DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in the transcriptional regulation of genes required for mesoderm differentiation
  • probably playing a role in limb pattern formation
  • may have a potential role in tumorigenesis as an immortalizing agent
  • as TBX3 may play a dual role during the radial to vertical growth phase transition by both inhibiting senescence via repression of CDKN1A expression, and enhancing melanoma invasiveness by decreasing E-cadherin level
  • T-box transcriptional repressor, functioning to demarcate the territory of the pronephric nephron
  • novel role for TBX2 in tooth development
  • TBX2 mediates BMP signal to down-regulate FGF signaling pathway by repressing FLRT3 expression for anterior tissue formation
  • 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 cell life, proliferation/growth
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • regulation
  • anteroposterior axis
  • positive regulation of cell proliferation
  • cardiac muscle development
  • mammary gland development
  • negative regulation of transcription from RNA polymerase II promoter
  • PATHWAY
    metabolism
    signaling
    a component
  • TBX2/MAGED1 complex protected cells against anoikis by downregulating CDKN2A
  • INTERACTION
    DNA binding through T-box
    RNA
    small molecule
    protein
  • CDKN2A repression
  • E2F1, MYC or HRAS activation
  • has a central part in directing HAS2 and TTGFB2 expression, facilitating endocardial cushion formation
  • targets NDRG1 through a previously undescribed mechanism involving the recruitment of early growth response 1 (EGR1)
  • interacts with EGR1 and TBX2 requires EGR1 to target the NDRG1 proximal promoter
  • PML and TBX2 act in an autoregulatory loop to control the effective execution of the senescence program 7)
  • TBX2-mediated regulation of CDKN1A and CDKN1B represents a crucial node in the network integrating patterning information and cell cycle regulation that underlies growth, differentiation, and branching morphogenesis of this organ
  • CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression
  • TBX2 acts as regulator of melanogenesis by repressing the expression of the gene encoding the melanosomal protein OCA2
  • TBX2, which is a target gene of BMP signal, down-regulates FGF8 signaling by inhibiting the expression of FLRT3, a positive regulator of this pathway
  • cell & other
    REGULATION
    Other regulated by MITF
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL17Q23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in primary breast and ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveuterus
    PSCA and TBX2 might be candidate targets for cancer therapy in endometrial adenocarcinoma
    ANIMAL & CELL MODELS
  • Tbx2 in the embryonic mouse heart at early stages of development throughout the myocardium of the heart tube both represses proliferation and impairs secondary heart field (SHF) progenitor cell deployment into the outflow tract (OFT), implicating the upregulation of Ndrg2 and downregulation of Ndrg4 expression
  • lungs of Tbx2-deficient mice are markedly hypoplastic and exhibit reduced branching morphogenesis