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    Cngb3 cyclic nucleotide gated channel beta 3 [ Mus musculus (house mouse) ]

    Gene ID: 30952, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Cngb3provided by MGI
    Official Full Name
    cyclic nucleotide gated channel beta 3provided by MGI
    Primary source
    MGI:MGI:1353562
    See related
    Ensembl:ENSMUSG00000056494 AllianceGenome:MGI:1353562
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CNG6; CCNC2; Cngbeta2
    Summary
    Enables intracellular cGMP-activated cation channel activity. Predicted to be involved in cation transport. Predicted to act upstream of or within ion transport. Located in photoreceptor outer segment. Used to study achromatopsia 3. Human ortholog(s) of this gene implicated in achromatopsia 3 and color blindness. Orthologous to human CNGB3 (cyclic nucleotide gated channel subunit beta 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 A3; 4 7.42 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (19280850..19510623)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (19280850..19510623)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_09691 Neighboring gene STARR-seq mESC enhancer starr_09692 Neighboring gene STARR-seq mESC enhancer starr_09693 Neighboring gene predicted gene, 42258 Neighboring gene STARR-seq mESC enhancer starr_09694 Neighboring gene predicted gene 12393 Neighboring gene SET pseudogene Neighboring gene STARR-seq mESC enhancer starr_09695 Neighboring gene STARR-seq mESC enhancer starr_09696 Neighboring gene copine III Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:19502117-19502304 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene predicted gene, 52724

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. Hassall MM, et al. Invest Ophthalmol Vis Sci, 2018 Dec 3. PMID 30592498
    2. Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. Marangoni D, et al. Invest Ophthalmol Vis Sci, 2015 Oct. PMID 26567794, Free PMC Article
    3. Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency. Xu J, et al. Invest Ophthalmol Vis Sci, 2011 Jun 1. PMID 21273547, Free PMC Article
    4. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes. Jinda W, et al. Int Ophthalmol, 2021 Jan. PMID 32869108
    5. Exploration of cone cyclic nucleotide-gated channel-interacting proteins using affinity purification and mass spectrometry. Ding XQ, et al. Adv Exp Med Biol, 2014. PMID 24664681

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
      Title: Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
    2. We identified the spontaneous occurrence of a 10th model of cone photoreceptor function loss (cpfl10) in an isolated line of inbred mice. Our results indicate that this is caused by a novel missense mutation in the Cngb3 gene, with a fully recessive inheritance pattern.
      Title: A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
    3. CNGB3 regulates cone light response kinetics and the channel structural flexibility.
      Title: The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.
    4. This work investigated the functional modulation of cone CNG channel by exploring the channel-interacting proteins.
      Title: Exploration of cone cyclic nucleotide-gated channel-interacting proteins using affinity purification and mass spectrometry.
    5. Cone CNG channel is a heterotetrameric complex likely at a stoichiometry of three CNGA3 and one CNGB3.
      Title: Biochemical characterization of cone cyclic nucleotide-gated (CNG) channel using the infrared fluorescence detection system.
    6. RDS does not interact with the cone CNG.
      Title: RDS in cones does not interact with the beta subunit of the cyclic nucleotide gated channel.
    7. The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry
      Title: The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cGMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cGMP binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables cGMP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables intracellularly cAMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intracellularly cGMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables intracellularly cGMP-activated cation channel activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables intracellularly cGMP-activated cation channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoatomic cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic cation transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of intracellular cyclic nucleotide activated cation channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transmembrane transporter complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cyclic nucleotide-gated cation channel beta-3
    Names
    CNG channel beta-3
    cone photoreceptor cGMP-gated channel subunit beta
    cyclic nucleotide gated channel beta 6
    cyclic nucleotide-gated cation channel modulatory subunit
    cyclic nucleotide-gated channel subunit CNG6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013927.2 → NP_038955.1  cyclic nucleotide-gated cation channel beta-3

      See identical proteins and their annotated locations for NP_038955.1

      Status: VALIDATED

      Source sequence(s)
      AL683894, AL772281, BX001053, BX640400
      Consensus CDS
      CCDS17990.1
      UniProtKB/Swiss-Prot
      Q9JJZ9
      Related
      ENSMUSP00000100064.2, ENSMUST00000102999.2
      Conserved Domains (3) summary
      COG0664
      Location:510 → 640
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:516 → 624
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:228 → 445
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      19280850..19510623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJZ9.1 GenPept UniProtKB/Swiss-Prot:Q9JJZ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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