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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)
    Physical map
    RPS20P1 21q22.12 ribosomal protein S20, pseudogene 1 PPP1R2P2 21q22.13 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 RPL23AP3 21q22.2 ribosomal protein L23a pseudogene 3 C21orf18 21q22.13 chromosome 21 open reading frame 18 RIMKLP 21q22.13 ribosomal modification protein rimK-like (E. coli) pseudogene CBR1 21q22.2 carbonyl reductase 1 LOC388822 21 similar to Protein CGI-27 (C21orf19-like protein) LOC391280 21 similar to ribosomal protein S9 CBR3 21q22.2 carbonyl reductase 3 C21orf5 21q22.2 chromosome 21 open reading frame 5 RPL3P1 21q22.2 ribosomal protein L3 pseudogene 1 ZCWCC3 21q22.13 zinc finger, CW-type with coiled-coil domain 3 CHAF1B 21q22.2 chromatin assembly factor 1, subunit B (p60) CLDN14 21q22.3 claudin 14 PSMD15 21q22.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 LOC388823 21 LOC388823 SIM2 21q22.2 single-minded homolog 2 (Drosophila) HLCS 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) MRPL20P1 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) DSCR6 21q22.2 Down syndrome critical region gene 6 DSCR5 21q22.2 Down syndrome critical region gene 5 TTC3 21q22.2 tetratricopeptide repeat domain 3 DSCR9 21q22.13 Down syndrome critical region gene 9 DSCR3 21q22.3 Down syndrome critical region gene 3 DYRK1A 21q22.2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
    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