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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
    Physical map
    PCDH18 4q31.2-q32 protocadherin 18 LOC389255 4 similar to RSTI689 LOC152687 4p16.3 hypothetical protein LOC152687 AMBN 4q21 ameloblastin, enamel matrix protein FLJ90036 4p16.3 hypothetical protein FLJ90036 LOC391611 4 similar to Zinc finger protein 208 ZNF141 4p16.3 zinc finger protein 141 (clone pHZ-44) FLJ14297 4p16.3 hypothetical protein FLJ14297 FLJ20265 4p16.3 hypothetical protein FLJ20265 PDE6B 4p16.3 phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ATP5I 4p16.3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e MYL5 4p16.3 myosin, light polypeptide 5, regulatory FLJ22269 4p16.3 hypothetical protein FLJ22269 RNF3 4p16.3 ring finger protein 3 CPLX1 4p16.3 complexin 1 GAK 4p16 cyclin G associated kinase MGC4618 4p16.3 hypothetical protein MGC4618 DGKQ 4p16.3 diacylglycerol kinase, theta 110kDa SLC26A1 4p16.3 solute carrier family 26 (sulfate transporter), member 1 IDUA 4p16.3 iduronidase, alpha-L- FGFRL1 4p16 fibroblast growth factor receptor-like 1 LOC285498 4p16.3 hypothetical protein LOC285498 LOC132969 4p16.3 similar to hornerin SPON2 4p16.3 spondin 2, extracellular matrix protein CTBP1 4p16 C-terminal binding protein 1 MGC21675 4p16.3 hypothetical protein MGC21675 MAEA 4p16.3 macrophage erythroblast attacher KIAA1530 4p16.3 KIAA1530 protein FLJ34443 4p16.3 hypothetical protein FLJ34443 HSPX153 4p16.3 HPX-153 homeobox LOC345375 4p16.3 similar to CG32656-PA LOC152877 4p16.3 similar to RIKEN cDNA 5430419M09 SLBP 4p16 stem-loop (histone) binding protein LOC92305 4p16.3 hypothetical protein BC009331 TACC3 4p16.3 transforming, acidic coiled-coil containing protein 3 FGFR3 4p16.3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) LETM1 4p16.3 leucine zipper-EF-hand containing transmembrane protein 1 WHSC1 4p16.3 Wolf-Hirschhorn syndrome candidate 1 WHSC2 4p16.3 Wolf-Hirschhorn syndrome candidate 2 LOC389195 4 hypothetical gene supported by BC038466; BC047038 FLJ37478 4p16.3 hypothetical protein FLJ37478 POLN 4p16.3 polymerase (DNA directed) nu MGC4701 4p16.3 hypothetical protein MGC4701 MXD4 4p16.3 MAX dimerization protein 4 KIAA1643 4p16.3 KIAA1643 protein LOC339985 4p16.3 hypothetical gene supported by BC010180 RNF4 4p16.3 ring finger protein 4 C4orf8 4p16.3 chromosome 4 open reading frame 8 TNIP2 4p16.3 TNFAIP3 interacting protein 2 LOC389196 4 LOC389196 SH3BP2 4p16.3 SH3-domain binding protein 2 ADD1 4p16.3 adducin 1 (alpha) TETRAN 4p16.3 tetracycline transporter-like protein C4orf9 4p16.3 chromosome 4 open reading frame 9 GPRK2L 4p16.3 G protein-coupled receptor kinase 2-like (Drosophila) HD 4p16.3 huntingtin (Huntington disease) LOC345222 4p16.3 hypothetical gene supported by BC043530 RGS12 4p16.3 regulator of G-protein signalling 12 HGFAC 4p16.3 HGF activator FLJ33718 4p16.3 hypothetical protein FLJ33718
    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