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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
Location 11p15.5      Physical location : 2.289.728 - 2.292.182
Synonym symbol(s) ASH2, HASH2, MASH2
DNA
TYPE functioning gene
STRUCTURE 2.45 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure
  • telomeric imprinting domain at 11p15, containing ASCL2 , IGF2, H19
  • intronless
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1864 - 193 - 1997 9175731
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     intestinesmall intestine   
     stomach    
    Reproductivefemale systemplacenta  highly Homo sapiens
    cell lineage extravillus trophoblast
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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