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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
Corresponding disease
ACHM3 achromatopsia 3
RCD3 retinal cone dystrophy 3
Location 8q21.3      Physical location : 87.586.163 - 87.755.903
Synonym name
  • cyclic nucleotide-gated cation channel beta-3
  • cyclic nucleotide-gated cation channel modulatory subunit
  • cone photoreceptor cGMP-gated cation channel beta-subunit
  • pingelapese colorblindness
  • CNG channel beta-3
  • achromatopsia (rod monochromacy) 3
  • Synonym symbol(s) CNG6, ACHM3, RMCH, RMCH1
    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
    Physical map
    E2F5 8q21.13 E2F transcription factor 5, p130-binding MGC59868 CA1 8q13-q22.1 carbonic anhydrase I CA3 8q13-q22.1 carbonic anhydrase III, muscle specific CA2 8q13-q22.1 carbonic anhydrase II LOC392242 8 hypothetical gene supported by NM_172239 GOR 8q21.2 exonuclease GOR LOC392243 8 hypothetical gene supported by NM_172239 LOC392244 8 hypothetical gene supported by NM_172239 LOC392245 8 hypothetical gene supported by NM_172239 LOC392246 8 hypothetical gene supported by NM_172239 LOC392247 8 hypothetical gene supported by NM_172239 LOC392248 8 similar to large subunit ribosomal protein L36a LOC392249 8 similar to 60S ribosomal protein L32 PSKH2 8q21.2 serine/threonine kinase PSKH2 ATP6V0D2 8q21.13 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2 SLC7A13 8q21.2 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 WWP1 8q21 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 CGI-90 8q21.2 CGI-90 protein CPNE3 8q22.1-q22.2 copine III CNGB3 8q21-q22 cyclic nucleotide gated channel beta 3 FLJ35802 8q21.2-q21.3 hypothetical protein FLJ35802 LOC392250 8 similar to mitochondrial isoleucine tRNA synthetase SOX5P 8q21.1 SRY (sex determining region Y)-box 5 pseudogene FLJ35775 8q21.3 hypothetical protein FLJ35775
    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 (