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FLASH GENE
Symbol PDE6B contributors: mct - updated : 15-06-2011
HGNC name phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)
HGNC id 8786
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3414 - 854 - 2010 20940301
22 - 3411 - 853 - 2010 20940301
- - 2793 - 575 - 2010 20940301
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Nervousbrain   moderately
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
Muscular    
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal cGMP binding domains
  • a C terminal catalytic domain
  • conjugated LipoP
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Rd
    ortholog to murine Pde6b
    ortholog to Cani familiari PDBS
    Homologene
    FAMILY cyclic nucleotide phosphodiesterase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text
  • membrane-associated
  • basic FUNCTION
  • participating in processes of transmission and amplification of the visual signal
  • being necessary for the formation of a functional phosphodiesterase holoenzyme
  • central enzyme in the visual transduction cascade
  • key effector enzyme of the phototransduction cascade in rods and cones
  • catalytic PDE6A and PDE6B subunits are enzymatically equivalent
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain
  • prenylation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARRP2 , CSNB3
    related resource PDE6BMutations
    Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS