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FLASH GENE
Symbol SZT2 contributors: mct - updated : 16-10-2013
HGNC name seizure threshold 2 homolog (mouse)
HGNC id 29040
Corresponding disease
EECC encephalopathy with epilepsy and dysmorphic corpus callosum.
Location 1p34.2      Physical location : -
Synonym name
  • hypothetical protein LOC23334
  • related to myosin VIIA, >100kDa
  • KIAA0467
  • Synonym symbol(s) FLJ23425, FLJ10387, RP11-506B15.3, KIAA0467, C1orf84, SZT2A, SZT2B
    DNA
    TYPE functioning gene
    STRUCTURE 64.36 kb     71 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    71 - 13996 - 3375 - 2009 19624305
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Endocrinepancreas    
    Nervousbrainlimbic systemhippocampus   Homo sapiens
     brain cerebral cortexfrontal cortex  Homo sapiens
     gangliasensory gangliadorsal root   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebonesubchondral  
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a superoxide dismutase motif
  • a peroxisomal targeting signal
  • HOMOLOGY
    intraspecies homolog to myosin VIIA
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • important role for SZT2 in epileptogenesis
  • might also play a role in human brain development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EECC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS