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FLASH GENE
Symbol PDE6H contributors: mct - updated : 13-10-2012
HGNC name phosphodiesterase 6H, cGMP-specific, cone, gamma
HGNC id 8790
Corresponding disease
RCD6 retinal cone dystrophy 6
Location 12p13      Physical location : 15.125.955 - 15.134.797
EC.number 3.1.4.35
DNA
TYPE functioning gene
STRUCTURE 8.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
ATF7IP 12p13.31 activating transcription factor 7 interacting protein FLJ22662 12p13.2 hypothetical protein FLJ22662 GUCY2C 12p12 guanylate cyclase 2C (heat stable enterotoxin receptor) HIST4H4 12p13.1 histone 4, H4 H2AFJ 12p12 H2A histone family, member J WBP11 12p13.1 WW domain binding protein 11 MGC47869 12p13.1 hypothetical protein MGC47869 LOC387843 12 hypothetical gene supported by AK092637 DO 12q13.2-q13.3 Dombrock blood group MGP 12p13-p12 matrix Gla protein FLJ32115 12p13.1 hypothetical protein FLJ32115 ARHGDIB 12p12.3 Rho GDP dissociation inhibitor (GDI) beta PDE6H 12p13 phosphodiesterase 6H, cGMP-specific, cone, gamma RERG 12p13.31 RAS-like, estrogen-regulated, growth-inhibitor LOC387844 12 hypothetical gene supported by AK093218 PTPRO 12p13-p12 protein tyrosine phosphatase, receptor type, O EPS8 12p12 epidermal growth factor receptor pathway substrate 8 MRPS7P2 12p13.1 mitochondrial ribosomal protein S7 pseudogene 2 CGI-26 12p13.1 CGI-26 protein UNRIP 12q11-q12 CGI-26 protein
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Visualeye    
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
  • a C terminal catalytic domain, important in conferring inhibition
  • mono polymer tetramer
    HOMOLOGY
    Homologene
    FAMILY rod/cone cGMP-PDE gamma subunit family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • participating in processes of transmission and amplification of the visual signal
  • effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component two catalytic chains (alpha and beta), and two inhibitory chains (gamma)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS