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FLASH GENE
Symbol BEST3 contributors: npt/ - updated : 20-09-2006
HGNC name bestrophin 3
HGNC id 17105
Location 12q15      Physical location : 70.047.390 - 70.093.196
Synonym name
  • Best vitelliform macular dystrophy like 3
  • vitelliform macular dystrophy 2-like 3
  • Synonym symbol(s) VMD2L3, MGC40411, MGC13168
    DNA
    TYPE functioning gene
    STRUCTURE 45.81 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3552 76 668 - -
    6 - 2898 - 455 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestivemouth   highly
    Nervousbrain    
     nerve   highly
     spinal cord    
    Reproductivemale systemtestis   
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsensoryvisual  
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • unique C terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • bestrophin family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • forms calcium-sensitive chloride channels, and is able to form Ca-activated Cl channels in heterologous systems
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS