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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
DNA
TYPE functioning gene
STRUCTURE 169.74 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
Map cen - D8S1838 - D8S1119 - CNGB3 - D8S1707 - D8S271 - qter
Text see ACHM3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 4354 92.2 809 - 2005
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  specific Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
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 (