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FLASH GENE
Symbol CNGB3 contributors: mct/pgu/shn - updated : 21-06-2016
HGNC name cyclic nucleotide gated channel beta 3
HGNC id 2153
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • six transmembrane segments
  • a Pou domain between TM5 and TM6
  • a cytoplasmic N terminal tail
  • C terminal comprising the cGMP binding site
  • HOMOLOGY
    interspecies ortholog to Cngb3, Mus musculus
    ortholog to Cngb3, Rattus norvegicus
    ortholog to cngb3, Danio rerio
    ortholog to CNGB3, Pan troglodytes
    Homologene
    FAMILY
  • cyclic nucleotide-gated cation channel family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing an essential role for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones
  • playing an important modulatory role in the function of cone CNG channels with respect to cGMP and extracellular Ca(2+) sensitivities
  • essential role of CNGB3 in cone function and survival
  • having a pivotal role in the degenerative process
  • 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
  • regulates cone light response kinetics and the channel structural flexibility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS phototransduction
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GMP
  • protein
  • interacting with CNGB3 (essential role of CNGB3 in the biosynthesis of CNGA3)
  • cell & other
    REGULATION
    activated by cGMP leading to an opening of the cation
    channel and thereby causing a depolarization of cone photoreceptors
    ASSOCIATED DISORDERS
    corresponding disease(s) ACHM3 , RCD3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to reduced cone function
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    modulation of rod CNGB3 channel activity is a most promising target for the treatment in retinal degenerations with elevated cellular levels of cGMP
    ANIMAL & CELL MODELS
  • CNGB3(-/-) mice display early cone dysfunctions and loss of CNGB3 reduces biosynthesis of CNGA3 and impairs cone CNG channel function (
  • early-onset, slow progression of cone functional defects, cone loss and cone signaling deficits in CNGB3-/- mice (