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FLASH GENE
Symbol BEST2 contributors: mct/npt - updated : 20-09-2006
HGNC name bestrophin 2
HGNC id 17107
Location 19p13.2      Physical location : 12.863.406 - 12.869.269
Synonym name
  • vitelliform macular dystrophy 2-like 1
  • VMD2-like gene 1
  • Synonym symbol(s) FLJ20132, VMD2L1
    DNA
    TYPE functioning gene
    STRUCTURE 5.86 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1924 57 509 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • unique C terminus transmembrane helix
  • mono polymer tetramer , pentamer
    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
  • may conduct other physiologically significant anions such as bicarbonate
  • playing a role in the generation of intraocular pressure by regulating formation of aqueous humor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with PPP2CB and PPP2R1B
  • phosphorylated by PP2A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS