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FLASH GENE
Symbol TWIST2 contributors: mct - updated : 21-08-2015
HGNC name twist homolog 2 (Drosophila)
HGNC id 20670
Corresponding disease
ABPMS ablepharon-macrostomia syndrome
BBRSAY Barber-Say syndrome
FFDD2 focal facial dermal dysplasia 2
FFDD3 focal facial dermal dysplasia 3
Location 2q37.3      Physical location : 239.756.672 - 239.795.891
Synonym name
  • dermis expressed 1 protein
  • dermo-1
  • class A basic helix-loop-helix protein 39
  • twist-related bHLH protein Dermo1
    • Synonym symbol(s) DERMO1, Dermo-1, bHLHa39, MGC117334, SETLSS
    DNA
    TYPE functioning gene
    STRUCTURE 39.22 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1186 18.1 160 - - 11062344
    2 - 1434 - 160 - 2000 11062344
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebonesubchondral  
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Skeletonosteoblast
    cell lineage ectodermally derived cell lineages and in a subset of mesenchymal cell lineages, DRES49
    cell lines osteoblast cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text mesodermally derived tissues
    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