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Cngb3 Gene Detail
Summary
  • Symbol
    Cngb3
  • Name
    cyclic nucleotide gated channel beta 3
  • Synonyms
    CCNC2, CNG6, Cngbeta2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353562
    NCBI Gene: 30952
Location & Maps
more
  • Sequence Map
    Chr4:19280850-19510623 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      229774 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 7.42 cM, cytoband A3
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CNGB3, cyclic nucleotide gated channel beta 3
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CNGB3, cyclic nucleotide gated channel beta 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACHM1
  • Links
    NCBI Gene ID: 54714
    neXtProt AC: NX_Q9NQW8

  • Chr Location
    8q21.3; chr8:86573843-86743675 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cngb3 mouse models; 2 with human CNGB3 associations

Human Disease Mouse Models
       Achromatopsia 3; ACHM3   OMIM: 262300 View 1 model
       Stargardt Disease 1; STGD1   OMIM: 248200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004614 VEGA Gene Model | MGI Sequence Detail 229774 C57BL/6J ±  kb
transcript OTTMUST00000010430 VEGA | MGI Sequence Detail 4708 Not Applicable  
polypeptide OTTMUSP00000004949 VEGA | MGI Sequence Detail 694 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    926 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 2
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 6
    Phenotypes 8
  • Earliest
    J:60247 Gerstner A, et al., Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J Neurosci. 2000 Feb 15;20(4):1324-32
  • Latest
    J:233723 Ding XQ, et al., The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility. J Biol Chem. 2016 Apr 15;291(16):8721-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory