Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CNGA3 contributors: mct/npt/shn/pgu - updated : 21-06-2016
HGNC name cyclic nucleotide gated channel alpha 3
HGNC id 2150
Corresponding disease
ACHM2 achromatopsia 2
Location 2q11.2      Physical location : 98.962.617 - 99.015.057
Synonym name
  • cone photoreceptor cGMP-gated channel subunit alpha
  • cone photoreceptor cGMP-gated channel alpha subunit
  • cyclic nucleotide-gated cation channel alpha-3
  • cyclic nucleotide-gated channel alpha-3
  • CNG channel alpha-3
  • CCNCalpha
  • Synonym symbol(s) CNCGCA, CCNC1, CNCG3, CNG3, CNG-3, CCNCa, ACHM2, CCNCalpha
    DNA
    TYPE functioning gene
    STRUCTURE 52.44 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D2S2222 - D2S2175 - CNGA3 - D2S2311 - D2S2187 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3794 76 676 - 2007 17018579
    lacking an alternate in-frame exon in the coding region
    8 - 3848 78 694 - 2007 17018579
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    endocrinebraindiencephalonpituitary  
    Nervousbraindiencephalonhypothalamus  
     spinal cordposterior horn  highly Homo sapiens
    Olfactoryolfactory bulb    
    Reproductivemale systemtestis  highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    Visualeyeretina  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsensoryolfactory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualbipolar cell
    Visualcone photoreceptor
    Visualganglion cell
    VisualMuller cell
    cell lineage
    cell lines
    fluid/secretion sperm
    at STAGE
    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
    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