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FLASH GENE
Symbol SEZ6L contributors: mct/npt - updated : 24-10-2009
HGNC name seizure related 6 homolog (mouse)-like
HGNC id 10763
Location 22q12.1      Physical location : 26.565.439 - 26.779.563
Synonym symbol(s) KIAA0927
DNA
TYPE functioning gene
STRUCTURE 210.96 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3424 109.1 1024 - Nishioka (2000)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas   highly
Nervousbrain   specific
Respiratorylung   highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • multiple domains involved in protein - protein interaction and signal transduction (Nishioka 2000)
  • short consensus repeats, sushi structure
  • CUB domain
    • HOMOLOGY
    interspecies homolog to murine seizure related gene 6 -like
    intraspecies homolog to PSK1
    Homologene
    FAMILY
  • SEZ6 family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in lung and breast cancer
    tumoral       loss of function
    by hypermethylation in colorectal cancer
    Susceptibility to lung cancer
    Variant & Polymorphism other role of the SEZ6L Met430Ile polymorphic variant in increasing lung cancer risk (Gorlov 2007)
    Candidate gene
  • candidate gene for epilepsy (Yu 2007)
  • DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC (Kang 2008)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS