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FLASH GENE
Symbol SIM2 contributors: mct - updated : 31-05-2015
HGNC name single-minded homolog 2 (Drosophila)
HGNC id 10883
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