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Aliases for CNGB1 Gene

Aliases for CNGB1 Gene

  • Cyclic Nucleotide Gated Channel Beta 1 2 3
  • Glutamic Acid-Rich Protein 2 3 4
  • CNCG3L 3 4 6
  • CNCG2 3 4 6
  • 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
  • Cyclic Nucleotide-Gated Channel Beta-1 3 4
  • CNG Channel Beta-1 3 4
  • CNCG4 3 4
  • CNG-4 3 4
  • RCNC2 3 4
  • RP45 3 6
  • CNG4 3 4
  • GARP 3 4
  • Cyclic Nucleotide-Gated Cation Channel Beta-1 3
  • Glutamic-Acid-Rich Protein 3
  • CNG Channel 4 4
  • RCNCbeta 3
  • CNGB1B 3
  • GARP2 3
  • RCNCb 3
  • GAR1 3

External Ids for CNGB1 Gene

Previous Symbols for CNGB1 Gene

  • CNCG2
  • CNCG3L

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 Signaling by GPCR and Disease. GO annotations related to this gene include voltage-gated potassium channel activity and cGMP binding. An important paralog of this gene is KCNH1.

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

Genomic Location for CNGB1 Gene

Start:
57,882,340 bp from pter
End:
57,979,251 bp from pter
Size:
96,912 bases
Orientation:
Minus strand

Genomic View for CNGB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNGB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGB1 Gene

Regulatory Elements 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

Proteomics data for CNGB1 Gene at MOPED

Post-translational modifications for CNGB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNGB1 Gene

No data available for DME Specific Peptides for CNGB1 Gene

Domains for CNGB1 Gene

Gene Families for CNGB1 Gene

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

Protein Domains for CNGB1 Gene

UniProtKB/Swiss-Prot:

CNGB1_HUMAN
Domain:
  • Contains 1 cyclic nucleotide-binding domain.:
    • Q14028
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily.:
    • Q14028
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: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 --
GO:0005515 protein binding IPI 20890309
GO:0015276 ligand-gated ion channel activity TAS 7682292
genes like me logo Genes that share ontologies with CNGB1: view
genes like me logo Genes that share phenotypes with CNGB1: view

Animal Models for CNGB1 Gene

MGI Knock Outs for CNGB1:

miRNA for CNGB1 Gene

miRTarBase miRNAs that target CNGB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for CNGB1 Gene COMPARTMENTS Subcellular localization image for CNGB1 gene
Compartment Confidence
cytosol 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNGB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
GO:0017071 intracellular cyclic nucleotide activated cation channel complex IEA --
genes like me logo Genes that share ontologies with CNGB1: view

Pathways 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:0006812 cation transport IDA 24164424
GO:0006996 organelle organization TAS --
GO:0007601 visual perception TAS 7682292
genes like me logo Genes that share ontologies with CNGB1: view

Compounds for CNGB1 Gene

(1) HMDB Compounds for CNGB1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(7) Novoseek inferred chemical compound relationships for CNGB1 Gene

Compound -log(P) Hits PubMed IDs
cgmp 57 1
amiloride 52.5 2
sodium 18.3 2
potassium 11.8 2
glutamate 6.21 3
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:

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 for CNGB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Hypothalamus (13.6), Brain - Anterior cingulate cortex (BA24) (7.6), Brain - Hippocampus (7.3), Brain - Cortex (5.5), and Brain - Frontal Cortex (BA9) (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNGB1 Gene

SOURCE GeneReport for Unigene cluster for CNGB1 Gene Hs.147062

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

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 36
  • 96.54 (n)
  • 95.26 (a)
CNGB1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNGB1 36
  • 81.09 (n)
  • 76.32 (a)
CNGB1 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNGB1 36
  • 82.24 (n)
  • 78.42 (a)
CNGB1 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cngb1 16
oppossum
(Monodelphis domestica)
Mammalia CNGB1 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNGB1 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cngb1 36
  • 78.65 (n)
  • 76.31 (a)
chicken
(Gallus gallus)
Aves CNGB1 36
  • 69.72 (n)
  • 66.48 (a)
CNGB1 37
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CNGB1 (1 of 2) 37
  • 40 (a)
OneToMany
cngb1a 37
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17922 37
  • 28 (a)
OneToMany
CG17922 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tax-2 36
  • 44.79 (n)
  • 39.15 (a)
tax-2 37
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToMany
Species with no ortholog for CNGB1:
  • 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)
  • 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

Selected 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 MAF
rs37915 -- 57,936,800(-) ttttt(G/T)gtttg intron-variant
rs37916 -- 57,937,281(-) TGAAT(C/T)GCCTA intron-variant
rs41245 -- 57,949,375(+) ttcct(C/G)ctcct missense, reference
rs41246 -- 57,949,925(+) agtgc(C/T)tgatg intron-variant
rs41247 -- 57,955,001(+) gcctc(A/G)gcctc utr-variant-3-prime, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv103820 CNV Insertion 16902084
dgv2875n71 CNV Loss 21882294

Relevant External Links for CNGB1 Gene

HapMap Linkage Disequilibrium report
CNGB1
Human Gene Mutation Database (HGMD)
CNGB1

Disorders for CNGB1 Gene

(1) OMIM Diseases for CNGB1 Gene (600724)

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.

(1) University of Copenhagen DISEASES for CNGB1 Gene

(1) Novoseek inferred disease relationships for CNGB1 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 48.3 1

Relevant External Links for CNGB1

Genetic Association Database (GAD)
CNGB1
Human Genome Epidemiology (HuGE) Navigator
CNGB1
genes like me logo Genes that share disorders with CNGB1: view

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 23
  2. 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 23
  3. 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
  4. Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin. (PMID: 9535905) Grunwald M.E. … Yau K.W. (J. Biol. Chem. 1998) 3 4
  5. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. (PMID: 11379879) Bareil C. … Claustres M. (Hum. Genet. 2001) 3 4

Products for CNGB1 Gene

Sources for CNGB1 Gene

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