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Cngb1 Gene Detail
Summary
  • Symbol
    Cngb1
  • Name
    cyclic nucleotide gated channel beta 1
  • Synonyms
    BC016201, Cngb1, Cngb1b, MGC:27656
  • Feature Type
    protein coding gene
  • IDs
    MGI:2664102
    NCBI Gene: 333329
  • Gene Overview
    MyGene.info: CNGB1
Location & Maps
more
  • Sequence Map
    Chr8:95239045-95306585 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      67541 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CNGB1, cyclic nucleotide gated channel beta 1
  • Vertebrate Orthologs
    3
  • Human Ortholog
    CNGB1, cyclic nucleotide gated channel beta 1
    Orthology source: HGNC
  • Synonyms
    CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45
  • Links
    NCBI Gene ID: 1258
    neXtProt AC: NX_Q14028

  • Chr Location
    16q13; chr16:57882340-57979295 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cngb1 mouse models; 1 with human CNGB1 associations

Human Disease Mouse Models
       Retinitis Pigmentosa; RP   OMIM: 268000 View 2 models
       Retinitis Pigmentosa 45; RP45   OMIM: 613767
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 4 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling.
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 OTTMUSG00000031171 VEGA Gene Model | MGI Sequence Detail 67541 C57BL/6J ±  kb
transcript OTTMUST00000077236 VEGA | MGI Sequence Detail 6189 Not Applicable  
polypeptide OTTMUSP00000040800 VEGA | MGI Sequence Detail 1325 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    449 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • InterPro Domains
    IPR018488 Cyclic nucleotide-binding, conserved site
    IPR000595 Cyclic nucleotide-binding domain
    IPR018490 Cyclic nucleotide-binding-like
    IPR032944 Cyclic nucleotide-gated cation channel beta-1
    IPR005821 Ion transport domain
    IPR014710 RmlC-like jelly roll fold
Molecular
Reagents
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  • All nucleic 7
    cDNA 7

    Microarray probesets 3
Other
Accession IDs
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MGI:2385303, MGI:3037817
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Diseases 4
    Gene Ontology 5
    Phenotypes 14
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:229473 Schon C, et al., Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. Hum Mol Genet. 2016 Mar 15;25(6):1165-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory