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FLASH GENE
Symbol PDE6C contributors: mct/npt - updated : 19-08-2009
HGNC name phosphodiesterase 6C, cGMP-specific, cone, alpha prime
HGNC id 8787
Corresponding disease
RCD7 retinal cone dystrophy 7
Location 10q23.33      Physical location : 95.372.344 - 95.425.427
Synonym name cGMP phosphodiesterase 6C
Synonym symbol(s) PDEA2
EC.number 3.1.4.35
DNA
TYPE functioning gene
STRUCTURE 53.08 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 2980 - 858 - Deloukas (2004)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretinafovea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal cGMP binding domains
  • two GAF domains (GAF-A and GAF-B)
  • a C terminal catalytic domain
  • HOMOLOGY
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • converts cGMP to 5prime-GMP, and thereby plays an essential role in cone phototransduction (Thiadens 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) RCD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    spontaneous mouse mutant cpfl1, featuring a lack of cone function and rapid cone photoreceptor degeneration, represents a homologous mouse model for PDE6C associated achromatopsia (Chang 2009)