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FLASH GENE
Symbol TWIST2 contributors: mct - updated : 21-08-2015
HGNC name twist homolog 2 (Drosophila)
HGNC id 20670
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-loop-helix DNA-binding domain
  • C-terminal domain is responsible for proper transactivation of the periostin gene
    • HOMOLOGY
    interspecies ortholog to murine dermo-1
    intraspecies homolog to EST,DRES49
    paralog to TWIST
    Homologene
    FAMILY
  • bHLH transcription factors family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • maintaining cells in an osteoprogenitor or preosteoblast-like state and preventing premature or ectopic osteoblast differentiation
  • role of TWIST2 in silencing TP53 function in several malignancies
  • repressing MYOD1 transactivation via the HLH domain, MEF2 interaction and chromatin deacetylation
  • key negative regulator of myeloid lineage development
  • critical role in regulating the development of myeloid lineages, as well as the function and inflammatory responses of mature myeloid cells
  • potential mediator of mesenchymal stromal/stem cells self-renewal and lineage commitment in postnatal skeletal tissues by exerting their effects on genes involved in the early stages of bone development
  • regulates CD7 expression and galectin-1-induced apoptosis in mature T-cells
  • critical for normal mesenchymal proliferation and differentiation
  • potentially required for normal corneal keratocyte proliferation and eyelid morphogenesis
  • potential involvement in the regulation of osteoblastogenesis by HB-EGF-EGFR signaling
  • regulates early limb morphogenesis through a role in terminating the SHH/GREM1/FGF autoregulatory loop
  • TWIST1 and TWIST2 regulate osteocalcin transcription in part through the interaction of the C-terminal "box" domain in these factors and RUNX2
  • is a key regulator of survival, invasion and anchorage-independent growth in the aneuploid cells
  • augments liver cancer stem-like cell self-renewal in a CD24-dependent manner
  • TWIST1 and TWIST2 regulate glycogen storage and inflammatory genes in skeletal muscle
  • basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues
    • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with MEF2 and MYOD1(repression of MEF2 transactivation domain)
  • RUNX2 inhibitor
  • potential transactivator of periostin (POSTN)
  • TWIST1, TWIST2 are novel inhibitory binding partners of ATF4
  • TWIST2 regulates early limb morphogenesis through a role in terminating the SHH/GREM1/FGF autoregulatory loop
  • TWIST2 directly regulated CDKN1A in human hematopoietic cells and whose silence promoted cell proliferation and cell cycle progression, this direct regulation of CDKN1A by TWIST2 has a role in its tumor-suppressor function in AML (acute myeloid leukemia)
  • TWIST1 and TWIST2 were required for optimal cytokine downregulation during acute and, particularly, chronic NOD2 stimulation of human macrophages
    • cell & other
    REGULATION
    induced by FGF2 in osteoblast cell lines
    ASSOCIATED DISORDERS
    corresponding disease(s) FFDD3 , FFDD2 , BBRSAY , ABPMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    increases the resistance to galectin-1-mediated-apoptosis, which may have significant implications for the progression of some T-cells into tumors such as Sezary cells
    tumoral     --over  
    may contribute to breast cancer progression by activating the EMT programme and enhancing the self-renewal of cancer stem-like cells (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    identification of the TWIST2-CD24 signaling pathway provides a potential therapeutic approach to target cancer stem cells in HCCs
    ANIMAL & CELL MODELS
    Adult Twist2-null mice display enophthalmia and blepharophimosis