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FLASH GENE
Symbol ASCL2 contributors: mct - updated : 21-09-2011
HGNC name achaete-scute complex-like 2 (Drosophila)
HGNC id 739
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a basic helix-loop-helix (BHLH) domain
    • HOMOLOGY
    interspecies homolog to Drosophila achaete-scute 2
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system
  • transcription factor essential for the maintenance of proliferating trophoblasts during placental development
  • controls intestinal stem cell fate
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component dimerization with other BHLH proteins is required for efficient DNA binding
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activates transcription by binding to the E box (5'-CANNTG-3')
  • inhibiting PCSK6 in placenta
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal adenocarcinomas
    constitutional       loss of function
    partial loss of function affects all three layers of the mature placenta and causes intrauterine growth restriction
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS