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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

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