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FLASH GENE
Symbol SIM2 contributors: mct - updated : 31-05-2015
HGNC name single-minded homolog 2 (Drosophila)
HGNC id 10883
Corresponding disease
TRI21 trisomy 21
Location 21q22.13      Physical location : 38.071.990 - 38.122.510
Synonym name
  • transcription factor SIM2
    • Synonym symbol(s) SIM, MGC119447
    DNA
    TYPE functioning gene
    STRUCTURE 50.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    MAPPING cloned Y linked N status confirmed
    Map cen - D21S65 - D21S333 - SIM2 - D21S335 - D21S233 - qter
    Authors Chen (95)
    regionally located located in the Down syndrome critical region
    RNA
    TRANSCRIPTS type messenger
    text three alternatively spliced isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3880 73 667 - Chen
    - - 2859 - 570 only colon, pancreas, prostate tumors Chen, Chrast
    inhibited in tumor-selective apoptosis and differentiation in colon cancer cells
    - - 3921 - 667 - Yamaki, Chrast
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     stomach   highly
    Reproductivefemale systemovary  highly
     male systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines glioblastoma cell line
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • basic helix-loop-helix (bHLH) juxtaposed to
  • a stretch of approximately 300 AA, termed the PAS (Per - ARNT - Sim) region
  • a NLS consisting of a cluster of basic amino acids with Pro and Tyr at the C-terminal
    • HOMOLOGY
    interspecies homolog to Drosophila (single-minded 2) Sim2
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • master regulator of fruit fly midline neurogenesis
  • involved in the development of midline cells in the central nervous system
  • MAD2L2 may mediate SIM2 function during development in CNS and thereby play a critical role in pathophysiological mechanisms in Down syndrome
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MAD2L2 is a novel SIM2 binding protein
  • MAGED1 binds and positively regulates the transcriptional activity of family members SIM1, SIM2, NPAS4 and ARNT2, but does not interact with AHR, HIF1A and ARNT
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TRI21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS