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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
Physical map
UPB1 22q11.2 ureidopropionase, beta MGC1842 22q11.2 hypothetical protein MGC1842 SNRPD3 22q11.21 small nuclear ribonucleoprotein D3 polypeptide 18kDa GGT1 22q11.23 gamma-glutamyltransferase 1 LOC388886 22 similar to hypothetical protein LOC192734 LOC343855 22q11.23 similar to POM121 membrane glycoprotein-like 1 LOC391323 22 similar to actin-related protein 2 LOC388887 22 LOC388887 BCRL6 22q11.22 breakpoint cluster region-like 6 TOP1P2 22q11.2-q13.1 topoisomerase (DNA) I pseudogene 2 KIAA1941 22q11.23 KIAA1941 protein LOC255349 22q11.23 hypothetical LOC255349 KIAA1671  KIAA1671 protein CRYBB3 22q11.23 crystallin, beta B3 CRYBB2 22q11.23 crystallin, beta B2 LOC91353 22q11.23 similar to omega protein DKFZp434O0213 22q11.23 hypothetical protein DKFZp434O0213 CRYBB2P1 22q11.23 crystallin, beta B2 pseudogene 1 ADRBK2 22q11.22 adrenergic, beta, receptor kinase 2 YESP 22q11-q12 v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene MYO18B 22q11.2-q12.1 myosin XVIIIB SEZ6L 22q11.21-q12.2 seizure related 6 homolog (mouse)-like FLJ38343 22q12.1 hypothetical protein FLJ38343 LOC391324 22 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC57168 22q12.1 similar to aspartate beta hydroxylase (ASPH) HPS4 22q11.2-q12.2 Hermansky-Pudlak syndrome 4 TFIP11 22q12.1 tuftelin interacting protein 11 TPST2 22q12.1 tyrosylprotein sulfotransferase 2 HMG1L10 22q12.1 high-mobility group (nonhistone chromosomal) protein 1-like 10 CRYBB1 22q11.22 crystallin, beta B1 CRYBA4 22q12.1 crystallin, beta A4 LOC391325 22 similar to HESB like domain containing 1 LOC388888 22 LOC388888 LOC388889 22 LOC388889
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