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Aliases for CNGB3 Gene

Aliases for CNGB3 Gene

  • Cyclic Nucleotide Gated Channel Beta 3 2 3
  • Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit 3 4
  • CNG Channel Beta-3 3 4
  • ACHM1 3 6
  • Cone Photoreceptor CGMP-Gated Cation Channel Beta-Subunit 3
  • Cone Photoreceptor CGMP-Gated Channel Subunit Beta 4
  • Cyclic Nucleotide-Gated Cation Channel Beta-3 3
  • Cyclic Nucleotide-Gated Channel Beta-3 4
  • Achromatopsia (Rod Monochromacy) 3 2
  • Achromatopsia (Rod Monochromacy) 1 2
  • ACHM3 6

External Ids for CNGB3 Gene

Previous Symbols for CNGB3 Gene

  • ACHM3
  • ACHM1
  • RMCH

Summaries for CNGB3 Gene

Entrez Gene Summary for CNGB3 Gene

  • This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

GeneCards Summary for CNGB3 Gene

CNGB3 (Cyclic Nucleotide Gated Channel Beta 3) is a Protein Coding gene. Diseases associated with CNGB3 include achromatopsia and stargardt disease, autosomal recessive. Among its related pathways are CREB Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated potassium channel activity and intracellular cAMP activated cation channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for CNGB3 Gene

  • Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.

Gene Wiki entry for CNGB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGB3 Gene

Genomics for CNGB3 Gene

Genomic Location for CNGB3 Gene

Start:
86,553,977 bp from pter
End:
86,743,675 bp from pter
Size:
189,699 bases
Orientation:
Minus strand

Genomic View for CNGB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNGB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGB3 Gene

Regulatory Elements for CNGB3 Gene

Proteins for CNGB3 Gene

  • Protein details for CNGB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQW8-CNGB3_HUMAN
    Recommended name:
    Cyclic nucleotide-gated cation channel beta-3
    Protein Accession:
    Q9NQW8
    Secondary Accessions:
    • C9JA51
    • Q9NRE9

    Protein attributes for CNGB3 Gene

    Size:
    809 amino acids
    Molecular mass:
    92167 Da
    Quaternary structure:
    • Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.
    SequenceCaution:
    • Sequence=AAF80179.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNGB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNGB3 Gene

Proteomics data for CNGB3 Gene at MOPED

Post-translational modifications for CNGB3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn468

Other Protein References for CNGB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNGB3 Gene

Domains for CNGB3 Gene

Gene Families for CNGB3 Gene

HGNC:
  • CNG :Voltage-gated ion channels / Cyclic nucleotide-regulated channels
IUPHAR :

Protein Domains for CNGB3 Gene

UniProtKB/Swiss-Prot:

CNGB3_HUMAN
Domain:
  • Contains 1 cyclic nucleotide-binding domain.:
    • Q9NQW8
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily.:
    • Q9NQW8
genes like me logo Genes that share domains with CNGB3: view

Function for CNGB3 Gene

Molecular function for CNGB3 Gene

UniProtKB/Swiss-Prot Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.

Gene Ontology (GO) - Molecular Function for CNGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005222 intracellular cAMP activated cation channel activity IBA --
GO:0005223 intracellular cGMP activated cation channel activity IDA 24164424
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005515 protein binding --
GO:0030553 cGMP binding IDA 24164424
genes like me logo Genes that share ontologies with CNGB3: view

Phenotypes for CNGB3 Gene

genes like me logo Genes that share phenotypes with CNGB3: view

Animal Models for CNGB3 Gene

MGI Knock Outs for CNGB3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CNGB3 Gene

Localization for CNGB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGB3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNGB3 Gene COMPARTMENTS Subcellular localization image for CNGB3 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CNGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:1902495 transmembrane transporter complex IDA 24164424
genes like me logo Genes that share ontologies with CNGB3: view

Pathways for CNGB3 Gene

genes like me logo Genes that share pathways with CNGB3: view

Pathways by source for CNGB3 Gene

Interacting Proteins for CNGB3 Gene

Gene Ontology (GO) - Biological Process for CNGB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 10888875
GO:0006812 cation transport IDA 24164424
GO:0007165 signal transduction NAS 10888875
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light IBA --
genes like me logo Genes that share ontologies with CNGB3: view

Compounds for CNGB3 Gene

(3) HMDB Compounds for CNGB3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cyclic AMP
  • Cyclic AMP
60-92-4
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
genes like me logo Genes that share compounds with CNGB3: view

Transcripts for CNGB3 Gene

mRNA/cDNA for CNGB3 Gene

Unigene Clusters for CNGB3 Gene

Cyclic nucleotide gated channel beta 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNGB3 Gene

No ASD Table

Relevant External Links for CNGB3 Gene

GeneLoc Exon Structure for
CNGB3
ECgene alternative splicing isoforms for
CNGB3

Expression for CNGB3 Gene

mRNA expression in normal human tissues for CNGB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNGB3 Gene

This gene is overexpressed in Testis (17.1) and Fallopian Tube (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNGB3 Gene

SOURCE GeneReport for Unigene cluster for CNGB3 Gene Hs.154433

mRNA Expression by UniProt/SwissProt for CNGB3 Gene

Q9NQW8-CNGB3_HUMAN
Tissue specificity: Expressed specifically in the retina.
genes like me logo Genes that share expressions with CNGB3: view

Orthologs for CNGB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNGB3 36
  • 99.09 (n)
  • 99.13 (a)
CNGB3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNGB3 36
  • 83.7 (n)
  • 78.28 (a)
CNGB3 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNGB3 36
  • 85.85 (n)
  • 79.1 (a)
CNGB3 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cngb3 36
  • 79.19 (n)
  • 69.65 (a)
Cngb3 16
Cngb3 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGB3 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNGB3 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cngb3 36
  • 79.23 (n)
  • 70.45 (a)
chicken
(Gallus gallus)
Aves CNGB3 36
  • 70.15 (n)
  • 67.65 (a)
CNGB3 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNGB3 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cngb3 36
  • 62.74 (n)
  • 57.56 (a)
zebrafish
(Danio rerio)
Actinopterygii cngb3 36
  • 59.52 (n)
  • 59.13 (a)
cngb3 37
  • 45 (a)
OneToMany
CNGB3 (2 of 2) 37
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17922 37
  • 24 (a)
OneToMany
CG17922 38
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-2 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 28 (a)
OneToMany
Species with no ortholog for CNGB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNGB3 Gene

ENSEMBL:
Gene Tree for CNGB3 (if available)
TreeFam:
Gene Tree for CNGB3 (if available)

Paralogs for CNGB3 Gene

Selected SIMAP similar genes for CNGB3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CNGB3: view

Variants for CNGB3 Gene

Sequence variations from dbSNP and Humsavar for CNGB3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs188808 -- 86,713,934(-) gtggg(A/G)tcaaa intron-variant
rs315959 -- 86,724,002(-) TGTTT(C/T)CTTCA intron-variant
rs315960 -- 86,722,901(-) gaccc(A/G)ggaaa intron-variant
rs315961 -- 86,721,399(-) cccca(A/G)agtcc intron-variant
rs315962 -- 86,720,335(-) tcctt(A/C)gccca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNGB3 Gene

Variant ID Type Subtype PubMed ID
esv2422239 CNV Duplication 17116639
nsv891150 CNV Gain 21882294
esv271865 CNV Insertion 20981092
nsv818641 CNV Loss 17921354
esv27647 CNV Loss 19812545
esv28589 CNV Loss 19812545
nsv891151 CNV Gain 21882294
nsv465734 CNV Gain 19166990

Relevant External Links for CNGB3 Gene

HapMap Linkage Disequilibrium report
CNGB3
Human Gene Mutation Database (HGMD)
CNGB3

Disorders for CNGB3 Gene

(2) OMIM Diseases for CNGB3 Gene (605080)

UniProtKB/Swiss-Prot

CNGB3_HUMAN
  • Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269 PubMed:15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. {ECO:0000269 PubMed:10888875, ECO:0000269 PubMed:10958649, ECO:0000269 PubMed:12357335, ECO:0000269 PubMed:14757870, ECO:0000269 PubMed:15657609, ECO:0000269 PubMed:15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CNGB3 Gene

(1) Novoseek inferred disease relationships for CNGB3 Gene

Disease -log(P) Hits PubMed IDs
achromatopsia 98.3 24

Relevant External Links for CNGB3

GeneTests
CNGB3
GeneReviews
CNGB3
Genetic Association Database (GAD)
CNGB3
Human Genome Epidemiology (HuGE) Navigator
CNGB3
genes like me logo Genes that share disorders with CNGB3: view

Publications for CNGB3 Gene

  1. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21. (PMID: 10958649) Kohl S. … Wissinger B. (Hum. Mol. Genet. 2000) 2 3 4 23
  2. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (PMID: 15657609) Kohl S. … Wissinger B. (Eur. J. Hum. Genet. 2005) 3 4 23 49
  3. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PMID: 15712225) Nishiguchi K.M. … Dryja T.P. (Hum. Mutat. 2005) 3 4 23
  4. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PMID: 14757870) Johnson S. … Hunt D.M. (J. Med. Genet. 2004) 3 4 23
  5. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens A.A. … Klaver C.C. (Ophthalmology 2009) 3 23 49

Products for CNGB3 Gene

Sources for CNGB3 Gene

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