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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
Corresponding disease
ARRP2 retinitis pigmentosa autosomal recessive, 2
CSNB3 blindness night congenital, stationary 3
Location 4p16.3      Physical location : 619.362 - 664.680
Synonym symbol(s) PDEB
EC.number 3.1.4.35, 3.1.4.17
DNA
TYPE functioning gene
STRUCTURE 45.32 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
text structure
  • 3prime UTR of the PDE6B mRNA is involved in the complex regulation of this gene expression in the retina
  • MAPPING cloned Y linked N status confirmed
    Map see D4S10
    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