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FLASH GENE
Symbol BEST2 contributors: mct/npt - updated : 23-08-2022
HGNC name bestrophin 2
HGNC id 17107
Location 19p13.13      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 - 2022 34902511
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon   Homo sapiens
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivegoblet Homo sapiens
    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
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    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
  • may likely play a functional role in the regulation of aqueous flow and drainage
  • BEST2 is a HCO3- channel that works in concert with a Cl:HCO3- exchanger in the apical membrane to affect transcellular HCO3- transport in Globet cells
  • role of BEST2 in distinguishing colon cancer from normal tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with PPP2CB and PPP2R1B
  • phosphorylated by PP2A
  • FOXA1 regulates sweat secretion through BEST2 anion channel and SLC12A2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the active lesions of ulcerative colitis, where goblet cells were depleted
    tumoral     --low  
    in colon cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker potential biomarker in colon cancer
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    therapeutic target in colon cancer
    neurosensorialvisualanterior chamber
    represents a new potential target for glaucoma therapy
    ANIMAL & CELL MODELS
  • Best2-deficient mice display comparable anhidrosis and glycoprotein accumulation