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FLASH GENE
Symbol CNGA3 contributors: mct/npt/shn/pgu - updated : 21-06-2016
HGNC name cyclic nucleotide gated channel alpha 3
HGNC id 2150
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six transmembrane segments
  • a pore domain between TM5 and TM6
  • a cytoplasmic N terminal tail
  • a C terminal comprising a cNMP binding site, a C-linker (a region that connects the CNBD to the sixth transmembrane segment in the pore region), and the distal C-terminus
  • a leucine zipper homology domain (CLZ)
    • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to Cnga3, Mus musculus
    ortholog to Cnga3, Rattus norvegicus
    ortholog to CNGA3, Pan troglodytes
    Homologene
    FAMILY
  • cyclic nucleotide gated ion channel family
    • CATEGORY signaling , receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text localized to inhibitory neurons of the dorsal horn of the spinal cord, whereas its distribution in dorsal root ganglia is restricted to non-neuronal cells
    basic FUNCTION
  • ligand gated ion channel involved in depolarization of cone photoreceptors
  • crucial component of the phototransduction cascade in cone outer segments
  • putative cGMP target in nociceptive processing (
  • contributes in an inhibitory manner to the central sensitization of pain pathways during inflammatory pain as a target of NO/cGMP signaling (
  • ER stress might play a crucial role in cone degeneration in CNG channel deficiency (CNGA3, CNGB3)
  • play a pivotal role in cone phototransduction, which is a process essential for daylight vision, color vision, and visual acuity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
  • molecular pathway linking CNGA3, its binding partner EMILIN1 and PDE6C, which is potentially replicated in cochlear outer hair cells, given stereociliary immunolocalizations of CNGA3, EMILIN1 and PDE6C
    • a component
  • forming an heterotetramer with CNGB1 formed by three A and one B subunits
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • CNMP
  • cation K+
    • protein
  • interacting with CNGB3 (essential role of CNGB3 in the biosynthesis of CNGA3)
  • interacts with stereocilia tip-link CDH23 + exon 68 or alternatively with MYO7A, two proteins required for hair cell mechanotransduction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACHM2
    related resource Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes a complete loss of cone phototransduction
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CNGA3(-/-) mice) exhibited an increased nociceptive behavior in models of inflammatory pain, whereas their behavior in models of acute or neuropathic pain was normal