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Aliases for CNGB1 Gene

Aliases for CNGB1 Gene

  • Cyclic Nucleotide Gated Channel Beta 1 2 3 5
  • Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit 3 4
  • Cyclic Nucleotide-Gated Cation Channel Gamma 3 4
  • Cyclic Nucleotide-Gated Cation Channel 4 3 4
  • Glutamic Acid-Rich Protein 2 4
  • CNG Channel Beta-1 3 4
  • CNCG3L 3 4
  • CNCG2 3 4
  • CNG-4 3 4
  • CNCG4 3 4
  • RCNC2 3 4
  • CNG4 3 4
  • GARP 3 4
  • Cyclic Nucleotide-Gated Cation Channel Beta-1 3
  • Cyclic Nucleotide-Gated Channel Beta-1 4
  • Glutamic-Acid-Rich Protein 3
  • CNG Channel 4 4
  • RCNCbeta 3
  • CNGB1B 3
  • GARP2 3
  • RCNCb 3
  • GAR1 3
  • RP45 3

External Ids for CNGB1 Gene

Previous HGNC Symbols for CNGB1 Gene

  • CNCG2
  • CNCG3L

Previous GeneCards Identifiers for CNGB1 Gene

  • GC16M048312
  • GC16M058001
  • GC16M057652
  • GC16M057692
  • GC16M056475
  • GC16M043783
  • GC16M057916

Summaries for CNGB1 Gene

Entrez Gene Summary for CNGB1 Gene

  • In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GeneCards Summary for CNGB1 Gene

CNGB1 (Cyclic Nucleotide Gated Channel Beta 1) is a Protein Coding gene. Diseases associated with CNGB1 include Retinitis Pigmentosa 45 and Cngb1-Related Retinitis Pigmentosa. Among its related pathways are Metabolism of fat-soluble vitamins and Organelle biogenesis and maintenance. GO annotations related to this gene include voltage-gated potassium channel activity and cGMP binding. An important paralog of this gene is CNGB3.

UniProtKB/Swiss-Prot for CNGB1 Gene

  • Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.

  • Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor dark noise and allowing these sensory cells to operate at the single photon detection limit.

Gene Wiki entry for CNGB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGB1 Gene

Genomics for CNGB1 Gene

Regulatory Elements for CNGB1 Gene

Enhancers for CNGB1 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
GH16F057846 0.6 FANTOM5 42.9 +133.9 133923 0.1 PKNOX1 CEBPB CEBPG ZNF623 RARA CEBPA TCF7 SMAD4 CNGB1 LOC388282 ADGRG1 GC16M057828 KIFC3
GH16F057891 1.7 FANTOM5 Ensembl ENCODE 11.3 +85.8 85759 3.9 PKNOX1 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ADGRG3 KIFC3 LOC388282 CNGB1 ADGRG1 CFAP20 ZNF319 GC16P057890 GC16P057897
GH16F057889 1.4 FANTOM5 Ensembl ENCODE 11.3 +89.0 88995 1.8 BCOR PKNOX1 SAP130 HLF ZMYM3 CEBPB CEBPG NR2F2 YY1 ATF3 KIFC3 LOC388282 CNGB1 ADGRG3 ADGRG1 CFAP20 GC16P057890
GH16F057633 1.7 FANTOM5 Ensembl ENCODE 9.2 +342.2 342162 7.7 HDGF PKNOX1 MLX CREB3L1 ARID4B DMAP1 SLC30A9 ZNF766 FOS ZNF263 ADGRG1 ADGRG3 CNGB1 PLLP CCL17 CX3CL1 GC16M057629 GC16P057639
GH16F058021 1.4 Ensembl ENCODE 10.9 -46.2 -46165 7.1 PKNOX1 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 KLF13 ZNF263 TEPP CFAP20 CNGB1 CSNK2A2 ZNF319 GC16P058028 MMP15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNGB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNGB1 Gene

Chromosome:
16
Start:
57,882,340 bp from pter
End:
57,979,295 bp from pter
Size:
96,956 bases
Orientation:
Minus strand

Genomic View for CNGB1 Gene

Genes around CNGB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNGB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNGB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGB1 Gene

Proteins for CNGB1 Gene

  • Protein details for CNGB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14028-CNGB1_HUMAN
    Recommended name:
    Cyclic nucleotide-gated cation channel beta-1
    Protein Accession:
    Q14028
    Secondary Accessions:
    • H3BN09
    • O43636
    • Q13059
    • Q14029
    • Q9UMG2

    Protein attributes for CNGB1 Gene

    Size:
    1251 amino acids
    Molecular mass:
    139678 Da
    Quaternary structure:
    • Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.

    Alternative splice isoforms for CNGB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNGB1 Gene

Post-translational modifications for CNGB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CNGB1 Gene

Domains & Families for CNGB1 Gene

Gene Families for CNGB1 Gene

Suggested Antigen Peptide Sequences for CNGB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14028

UniProtKB/Swiss-Prot:

CNGB1_HUMAN :
  • Contains 1 cyclic nucleotide-binding domain.
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily.
Domain:
  • Contains 1 cyclic nucleotide-binding domain.
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily.
genes like me logo Genes that share domains with CNGB1: view

Function for CNGB1 Gene

Molecular function for CNGB1 Gene

GENATLAS Biochemistry:
cyclic guanine nucleotide gated channel (cGMP) rod photoreceptor,beta 1 subunit,component of 240kDa channel associated protein,mediating Ca2-calmodulin modulation
UniProtKB/Swiss-Prot Function:
Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.
UniProtKB/Swiss-Prot Function:
Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor dark noise and allowing these sensory cells to operate at the single photon detection limit.

Gene Ontology (GO) - Molecular Function for CNGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005221 intracellular cyclic nucleotide activated cation channel activity IEA --
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 --
genes like me logo Genes that share ontologies with CNGB1: view
genes like me logo Genes that share phenotypes with CNGB1: view

Human Phenotype Ontology for CNGB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CNGB1 Gene

Localization for CNGB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGB1 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 CNGB1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0001750 photoreceptor outer segment IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CNGB1: view

Pathways & Interactions for CNGB1 Gene

genes like me logo Genes that share pathways with CNGB1: view

Gene Ontology (GO) - Biological Process for CNGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 15557452
GO:0006810 transport TAS 7682292
GO:0006811 ion transport IEA --
GO:0006812 cation transport IDA 24164424
GO:0007601 visual perception TAS 7682292
genes like me logo Genes that share ontologies with CNGB1: view

No data available for SIGNOR curated interactions for CNGB1 Gene

Drugs & Compounds for CNGB1 Gene

(5) Drugs for CNGB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(3) Additional Compounds for CNGB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNGB1: view

Transcripts for CNGB1 Gene

Unigene Clusters for CNGB1 Gene

Cyclic nucleotide gated channel beta 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNGB1 Gene

No ASD Table

Relevant External Links for CNGB1 Gene

GeneLoc Exon Structure for
CNGB1
ECgene alternative splicing isoforms for
CNGB1

Expression for CNGB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNGB1 Gene

mRNA differential expression in normal tissues according to GTEx for CNGB1 Gene

This gene is overexpressed in Brain - Hypothalamus (x13.6), Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Hippocampus (x7.3), Brain - Cortex (x5.5), and Brain - Frontal Cortex (BA9) (x5.3).

Protein differential expression in normal tissues from HIPED for CNGB1 Gene

This gene is overexpressed in Nasal epithelium (54.8) and Retina (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNGB1 Gene



Protein tissue co-expression partners for CNGB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNGB1 Gene:

CNGB1

SOURCE GeneReport for Unigene cluster for CNGB1 Gene:

Hs.147062
genes like me logo Genes that share expression patterns with CNGB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CNGB1 Gene

Orthologs for CNGB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNGB1 34 35
  • 96.54 (n)
dog
(Canis familiaris)
Mammalia CNGB1 34 35
  • 82.24 (n)
cow
(Bos Taurus)
Mammalia CNGB1 34 35
  • 81.09 (n)
rat
(Rattus norvegicus)
Mammalia Cngb1 34
  • 78.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNGB1 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGB1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNGB1 34 35
  • 69.72 (n)
zebrafish
(Danio rerio)
Actinopterygii cngb1a 35
  • 63 (a)
OneToMany
CNGB1 (1 of 2) 35
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17922 36 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-2 34 35
  • 44.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for CNGB1 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CNGB1 Gene

ENSEMBL:
Gene Tree for CNGB1 (if available)
TreeFam:
Gene Tree for CNGB1 (if available)

Paralogs for CNGB1 Gene

(3) SIMAP similar genes for CNGB1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNGB1: view

Variants for CNGB1 Gene

Sequence variations from dbSNP and Humsavar for CNGB1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121918532 Retinitis pigmentosa 45 (RP45) [MIM:613767], Pathogenic 57,897,913(-) TCAGG(A/G/T)GGAGA reference, missense
rs201553871 Pathogenic 57,923,327(+) CTGCT(C/G)GTGAC reference, missense
rs372504780 Pathogenic 57,950,463(+) ATCCT(A/G)GTGGG reference, stop-gained
rs797044693 Pathogenic 57,904,811(-) ACCCC(-/C)AAGAC reference, frameshift-variant
rs527236060 Likely pathogenic 57,964,482(-) GGTGA(A/C/G)TGCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNGB1 Gene

Variant ID Type Subtype PubMed ID
nsv1063386 CNV gain 25217958
nsv1062660 CNV gain 25217958
nsv103820 CNV insertion 16902084
esv3582253 CNV loss 25503493
esv3370975 CNV insertion 20981092

Variation tolerance for CNGB1 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.63; 86.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNGB1 Gene

Human Gene Mutation Database (HGMD)
CNGB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNGB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGB1 Gene

Disorders for CNGB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CNGB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 45
  • rp45
cngb1-related retinitis pigmentosa
retinitis pigmentosa
  • retinitis pigmentosa 1
achromatopsia
  • achm
- elite association - COSMIC cancer census association via MalaCards
Search CNGB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNGB1_HUMAN
  • Retinitis pigmentosa 45 (RP45) [MIM:613767]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:11379879}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNGB1

Genetic Association Database (GAD)
CNGB1
Human Genome Epidemiology (HuGE) Navigator
CNGB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNGB1
genes like me logo Genes that share disorders with CNGB1: view

No data available for Genatlas for CNGB1 Gene

Publications for CNGB1 Gene

  1. cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP- gated channel. (PMID: 7590744) Ardell M.D. … Pittler S.J. (Genomics 1995) 2 3 4 22 64
  2. The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit. (PMID: 8766832) Ardell M.D. … Pittler S.J. (FEBS Lett. 1996) 2 3 4 64
  3. A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. (PMID: 7682292) Chen T.-Y. … Yau K.-W. (Nature 1993) 3 4 22 64
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  5. The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32. (PMID: 20126465) Becirovic E. … Michalakis S. (PLoS ONE 2010) 3 22 64

Products for CNGB1 Gene

Sources for CNGB1 Gene

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