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FLASH GENE
Symbol EMX2 contributors: mct - updated : 21-05-2013
HGNC name empty spiracles homeobox 2
HGNC id 3341
Corresponding disease
EMX2 schizencephaly, severe
Location 10q26.1      Physical location : 119.301.955 - 119.309.056
Synonym name
  • empty spiracles homolog 2 (Drosophila)
  • empty spiracles- like protein 2
  • homeobox protein EMX2
  • DNA
    TYPE functioning gene
    STRUCTURE 7.10 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • enhancer for EMX2 expression unique to mammalian telencephalon
  • MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2908 - 252 - 2001 11549315
    2 - 2723 - 169 - 2001 11549315
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex  
    Reproductivefemale systemuterus   
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, ageing
    Text cerebral cortex, post menopausal endometrium
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix DNA binding domain, 61 amino-acid homeobox
  • HOMOLOGY
    interspecies homolog to Drosophila empty spiracles (ems) 2
    homolog to murine Emx2
    homolog to C.elegans Wo2b8.1
    intraspecies homolog to EMX1
    homolog to VAX1
    Homologene
    FAMILY EMX family of homeobox protein
    CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in brain development, normal growth and maturation of hippocampus
  • functioning in combinations with OTX1/2 to specify cell fates in the developing central nervous system
  • suppress choroid plexus development and promote neuroepithelial cell fate
  • FGF8, FGF17 and EMX2 play distinct roles in the molecular regionalization of frontal cortex subdivisions (
  • with FOXG1, inhibit gliogenesis and promote neuronogenesis
  • may have important roles as a novel suppressor in human lung cancer
  • HOXA10 and EMX2 are two transcription factors necessary for female Müllerian duct differentiation and development
  • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PAX6
  • ODZ1 is the first EMX2 target gene
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EMX2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in endometrial cancer (see TSG10B)
    tumoral     --low  
    in lung cancer and this downregulation was associated with methylation of the EMX2 promoter
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS