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FLASH GENE
Symbol JCAD contributors: mct - updated : 08-09-2012
HGNC name KIAA1462
HGNC id 29283
Location 10p11.23      Physical location : -
Genatlas name junctional protein associated with coronary artery disease
Synonym name hypothetical protein LOC57608
Synonym symbol(s) KIAA1462
DNA
TYPE functioning gene
STRUCTURE 46.76 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 9300 145 1359 - 2011 21884682
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   predominantly
Hearing/Equilibriumear    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a proline-rich region within the N-terminal portion
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
    text
  • pecifically localized at cell–cell junctions in endothelial cells but not in epithelial cells
  • basic FUNCTION
  • novel molecular component of endothelial cell–cell junctions across vertebrate species
  • its accumulation into endothelial cell–cell junctions depends on CDH5-mediated cell–cell adhesion
  • may contribute to the regulation cell–cell junction formation or relay of the outside-in/inside-out signaling of cell–cell adhesion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of VE-cadherin-based cell–cell junctions in endothelial cells
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to coronary artery disease (CAD) or myocardial infarction (MI)
    Variant & Polymorphism SNP
  • SNP rs3739998 significant associated with CAD/MI
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS