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Aliases for CNGB3 Gene

Aliases for CNGB3 Gene

  • Cyclic Nucleotide Gated Channel Beta 3 2 3 5
  • Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit 3 4
  • CNG Channel Beta-3 3 4
  • 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
  • ACHM1 3

External Ids for CNGB3 Gene

Previous HGNC Symbols for CNGB3 Gene

  • ACHM3
  • ACHM1
  • RMCH

Previous GeneCards Identifiers for CNGB3 Gene

  • GC08M086090
  • GC08M087318
  • GC08M087542
  • GC08M087541
  • GC08M087655
  • GC08M082795
  • GC08M087566

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-3 and Stargardt Disease 1. Among its related pathways are Phototransduction and Sweet Taste Signaling. 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 CNGB1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGB3 Gene

Genomics for CNGB3 Gene

Regulatory Elements for CNGB3 Gene

Enhancers for CNGB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G086782 0.4 FANTOM5 39.6 -38.9 -38917 0.3 NONO CNGB3 CNBD1 ENSG00000253568 PIR44040
GH08G086763 0.2 ENCODE 10 -19.4 -19413 0.2 CNGB3 ENSG00000253778 GC08M086746 GC08M086749
GH08G086661 0.5 FANTOM5 3.4 +81.8 81771 0.3 GATA2 FOS WWP1 CNGB3 UBE2Q2P10 GOLGA2P1
GH08G086767 0.2 ENCODE 7.6 -23.8 -23773 0.2 CNGB3 ENSG00000253778 ENSG00000253568
GH08G086724 0.5 ENCODE 0.4 +18.8 18828 0.2 GATA2 JUN FOS ENSG00000254115 CNGB3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNGB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNGB3 Gene

Chromosome:
8
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

Genes around CNGB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNGB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNGB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CNGB3 Gene

  • Glycosylation at posLast=468468
  • Modification sites at PhosphoSitePlus

Other Protein References for CNGB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNGB3 Gene

Domains & Families for CNGB3 Gene

Gene Families for CNGB3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQW8

UniProtKB/Swiss-Prot:

CNGB3_HUMAN :
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily.
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily.
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:0005221 intracellular cyclic nucleotide activated cation channel activity IEA --
GO:0005223 intracellular cGMP activated cation channel activity IDA 24164424
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0030553 cGMP binding IDA,IEA 24164424
genes like me logo Genes that share ontologies with CNGB3: view
genes like me logo Genes that share phenotypes with CNGB3: view

Human Phenotype Ontology for CNGB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNGB3 Gene

MGI Knock Outs for CNGB3:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNGB3 gene
Compartment Confidence
plasma membrane 4
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:1902495 transmembrane transporter complex IDA 24164424
genes like me logo Genes that share ontologies with CNGB3: view

Pathways & Interactions for CNGB3 Gene

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

Pathways by source for CNGB3 Gene

1 BioSystems pathway for CNGB3 Gene
1 KEGG pathway 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:0006811 ion transport IEA --
GO:0006812 cation transport IDA 24164424
GO:0007165 signal transduction NAS 10888875
GO:0007601 visual perception IEA,TAS --
genes like me logo Genes that share ontologies with CNGB3: view

No data available for SIGNOR curated interactions for CNGB3 Gene

Drugs & Compounds for CNGB3 Gene

(3) Drugs for CNGB3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Cyclic GMP Experimental Pharma 0
calcium Nutra 0
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x17.1) and Fallopian Tube (x7.4).

Protein differential expression in normal tissues from HIPED for CNGB3 Gene

This gene is overexpressed in Testis (57.9) and Fetal gut (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNGB3 Gene



Protein tissue co-expression partners for CNGB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNGB3 Gene:

CNGB3

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.

Evidence on tissue expression from TISSUES for CNGB3 Gene

  • Eye(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNGB3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CNGB3: view

Primer Products

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 34 35
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia CNGB3 34 35
  • 85.85 (n)
cow
(Bos Taurus)
Mammalia CNGB3 34 35
  • 83.7 (n)
rat
(Rattus norvegicus)
Mammalia Cngb3 34
  • 79.23 (n)
mouse
(Mus musculus)
Mammalia Cngb3 34 16 35
  • 79.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNGB3 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGB3 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNGB3 34 35
  • 70.15 (n)
lizard
(Anolis carolinensis)
Reptilia CNGB3 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cngb3 34
  • 62.74 (n)
zebrafish
(Danio rerio)
Actinopterygii CNGB3 (2 of 2) 35
  • 60 (a)
OneToMany
cngb3 34 35
  • 59.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17922 36 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-2 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
Species where no ortholog for CNGB3 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs114305748 Likely benign, Achromatopsia 3 (ACHM3) [MIM:262300] 86,668,067(+) GTACT(C/G/T)TGTTA reference, missense
rs121918344 Pathogenic, Achromatopsia 3 (ACHM3) [MIM:262300] 86,632,768(-) GTTCT(C/T)CAGTT reference, missense
rs139207764 Achromatopsia 3 (ACHM3) [MIM:262300] 86,670,970(+) GTGAG(A/G)AGAGA reference, missense
rs146688972 Achromatopsia 3 (ACHM3) [MIM:262300] 86,726,550(+) TTTCC(C/T)GGGGT reference, missense
rs16916632 Likely benign, Achromatopsia 3 (ACHM3) [MIM:262300] 86,668,054(+) TAATT(C/T)GCTTT reference, missense

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

Variant ID Type Subtype PubMed ID
esv2422239 CNV duplication 17116639
esv27647 CNV loss 19812545
esv28589 CNV loss 19812545
esv3307591 CNV mobile element insertion 20981092
esv3357941 CNV insertion 20981092
esv3572887 CNV loss 25503493
nsv1023510 CNV loss 25217958
nsv465734 CNV gain 19166990
nsv611709 CNV gain 21841781
nsv818641 CNV loss 17921354
nsv951454 CNV deletion 24416366
nsv971682 CNV duplication 23825009
nsv981963 CNV duplication 23825009

Variation tolerance for CNGB3 Gene

Residual Variation Intolerance Score: 91.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.26; 70.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNGB3 Gene

Human Gene Mutation Database (HGMD)
CNGB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNGB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGB3 Gene

Disorders for CNGB3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for CNGB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achromatopsia-3
  • achromatopsia 3
stargardt disease 1
  • fundus flavimaculatus
achromatopsia
  • achm
cone-rod dystrophy 6
  • cone dystrophy
cngb3-related stargardt disease 1
  • cngb3-related fundus flavimaculatus
- elite association - COSMIC cancer census association via MalaCards
Search CNGB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNGB3_HUMAN
  • 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.
  • 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.

Relevant External Links for CNGB3

Genetic Association Database (GAD)
CNGB3
Human Genome Epidemiology (HuGE) Navigator
CNGB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNGB3
genes like me logo Genes that share disorders with CNGB3: view

No data available for Genatlas for CNGB3 Gene

Publications for CNGB3 Gene

  1. 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 22 46 64
  2. 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 22 64
  3. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens A.A. … Klaver C.C. (Ophthalmology 2009) 3 22 46 64
  4. 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 22 64
  5. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PMID: 14757870) Johnson S. … Hunt D.M. (J. Med. Genet. 2004) 3 4 22 64

Products for CNGB3 Gene

Sources for CNGB3 Gene

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