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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 Retinitis Pigmentosa. Among its related pathways are Organelle biogenesis and maintenance and Phototransduction. Gene Ontology (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

Additional gene information for CNGB1 Gene

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

Genomics for CNGB1 Gene

GeneHancer (GH) Regulatory Elements for CNGB1 Gene

Promoters and enhancers for CNGB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I057970 Promoter 0.6 EPDnew 550.4 +8.8 8809 0.1 BCOR GC16M057968 CNGB1 TEPP
GH16I057971 Promoter 0.5 EPDnew 550.4 +8.1 8147 0.1 CNGB1 GC16M057968 TEPP
GH16I058021 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.9 -46.2 -46165 7.1 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 MMP15 TEPP CFAP20 CNGB1 CSNK2A2 ZNF319 GC16P058028
GH16I057846 Enhancer 0.6 FANTOM5 42.9 +133.9 133923 0.1 PKNOX1 CEBPB CEBPG ZNF623 RARA ATF4 CEBPA TCF7 ATF7 SMAD4 CNGB1 LOC388282 ADGRG1 GC16M057828 KIFC3
GH16I057734 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 +243.0 242953 3.8 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B KATNB1 RSPRY1 CNOT1 SETD6 ADGRG1 CSNK2A2 CNGB1 DRC7 LOC101927556 GC16M057746
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CNGB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNGB1 gene promoter:

Genomic Locations for CNGB1 Gene

Genomic Locations for CNGB1 Gene
chr16:57,882,340-57,979,295
(GRCh38/hg38)
Size:
96,956 bases
Orientation:
Minus strand
chr16:57,916,244-58,005,020
(GRCh37/hg19)

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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 :
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily.
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.

Phenotypes From GWAS Catalog for CNGB1 Gene

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 IEA --
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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
See all subcellular structures

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:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for CNGB1 Gene

  • Eye(4.6)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNGB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CNGB1: view

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 33 34
  • 96.54 (n)
dog
(Canis familiaris)
Mammalia CNGB1 33 34
  • 82.24 (n)
cow
(Bos Taurus)
Mammalia CNGB1 33 34
  • 81.09 (n)
rat
(Rattus norvegicus)
Mammalia Cngb1 33
  • 78.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNGB1 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGB1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNGB1 33 34
  • 69.72 (n)
zebrafish
(Danio rerio)
Actinopterygii cngb1a 34
  • 63 (a)
OneToMany
CNGB1 (1 of 2) 34
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17922 35 34
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-2 33 34
  • 44.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

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 Variation AA Info Type
rs10459809 benign, not-provided, likely-benign, not specified, not provided, Retinitis Pigmentosa, Recessive 57,915,320(-) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11076207 likely-benign, Retinitis Pigmentosa, Recessive 57,887,848(-) A/G genic_downstream_transcript_variant, intron_variant
rs112002818 not-provided, likely-benign, not provided, Retinitis Pigmentosa, Recessive 57,901,538(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs112033454 uncertain-significance, Retinitis Pigmentosa, Recessive 57,883,920(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs116564376 uncertain-significance, Retinitis Pigmentosa, Recessive 57,883,883(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

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

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

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)

Additional Variant Information for CNGB1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CNGB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 45
  • rp45
retinitis pigmentosa
  • rp
rhyns syndrome
  • retinitis pigmentosa syndrome
achromatopsia
  • achm
retinal disease
  • retinal disorders
- 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.

Additional Disease Information for CNGB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MD … Pittler SJ (Genomics 1995) 2 3 4 22 58
  2. The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit. (PMID: 8766832) Ardell MD … Pittler SJ (FEBS letters 1996) 2 3 4 58
  3. A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. (PMID: 7682292) Chen TY … Yau KW (Nature 1993) 3 4 22 58
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58

Products for CNGB1 Gene

Sources for CNGB1 Gene

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