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CNGB1 Gene

protein-coding   GIFtS: 64
GCID: GC16M057916

Cyclic Nucleotide Gated Channel Beta 1


(Previous symbols: CNCG2, CNCG3L)
  See CNGB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclic Nucleotide Gated Channel Beta 11 2     RCNC22 3
CNCG21 2 3 5     CNG Channel Beta-12 3
CNCG3L1 2 3 5     RP452 5
Glutamic Acid-Rich Protein1 2 3     CNGB1B2
Cyclic Nucleotide-Gated Cation Channel 42 3     GAR12
Cyclic Nucleotide-Gated Cation Channel Gamma2 3     GARP22
Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit2 3     RCNCb2
Cyclic Nucleotide-Gated Channel Beta-12 3     RCNCbeta2
CNCG42 3     Cyclic Nucleotide-Gated Cation Channel Beta-12
CNG-42 3     Glutamic-Acid-Rich Protein2
CNG42 3     CNG Channel 43
GARP2 3     

External Ids:    HGNC: 21511   Entrez Gene: 12582   Ensembl: ENSG000000707297   OMIM: 6007245   UniProtKB: Q140283   

Export aliases for CNGB1 gene to outside databases

Previous GC identifers: GC16M048312 GC16M058001 GC16M057652 GC16M057692 GC16M056475 GC16M043783


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cngb1-related retinitis pigmentosa, and retinitis pigmentosa 45. GO annotations related to this gene include cGMP binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: CNGB1_HUMAN, Q14028
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
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 Wiki entry for CNGB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNGB1 gene promoter:
         GR   GATA-3   HNF-4alpha2   YY1   GATA-1   GATA-2   RORalpha1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNGB1 promoter sequence
   Search Chromatin IP Primers for CNGB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNGB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q13   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

CNGB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNGB1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M057916:  view genomic region     (about GC identifiers)

Start:
57,916,244 bp from pter      End:
58,005,020 bp from pter
Size:
88,777 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CNGB1_HUMAN, Q14028 (See protein sequence)
Recommended Name: Cyclic nucleotide-gated cation channel beta-1  
Size: 1251 amino acids; 139678 Da
Subunit: Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits (By similarity)
Secondary accessions: H3BN09 O43636 Q13059 Q14029 Q9UMG2
Alternative splicing: 4 isoforms:  Q14028-1   Q14028-2   Q14028-3   Q14028-4   (In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs))

Explore the universe of human proteins at neXtProt for CNGB1: NX_Q14028

Explore proteomics data for CNGB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CNGB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129111.1  NP_001273059.1  NP_001288.3  

    ENSEMBL proteins: 
     ENSP00000454633   ENSP00000251102   ENSP00000455964   ENSP00000311670   ENSP00000455708  
    Reactome Protein details: Q14028

    CNGB1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CNGB1 

     
    Search antibodies-online for proteins for CNGB1 

     
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    antibodies-online antibodies for CNGB1 (20 products) 

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    Browse ELISAs at Cloud-Clone Corp.
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    antibodies-online kits for CNGB1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CNG: Voltage-gated ion channels / Cyclic nucleotide-regulated channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: CNGB1
    Cyclic nucleotide-regulated channels

    4 InterPro protein domains:
     IPR018488 cNMP-bd_CS
     IPR018490 cNMP-bd-like
     IPR000595 cNMP-bd_dom
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry Q14028

    ProtoNet protein and cluster: Q14028

    1 Blocks protein domain: IPB000595 Cyclic nucleotide-binding domain

    UniProtKB/Swiss-Prot: CNGB1_HUMAN, Q14028
    Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB1 subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain


    Find genes that share domains with CNGB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNGB1_HUMAN, Q14028
    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
    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

         Genatlas biochemistry entry for CNGB1:
    cyclic guanine nucleotide gated channel (cGMP) rod photoreceptor,beta 1 subunit,component of 240kDa channel
    associated protein,mediating Ca2-calmodulin modulation

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005222intracellular cAMP activated cation channel activity IEA--
    GO:0005223intracellular cGMP activated cation channel activity IBA--
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005515protein binding IPI--
    GO:0015276ligand-gated ion channel activity TAS7682292
         
    Find genes that share ontologies with CNGB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CNGB1:
     Decreased influenza A/WSN/33 r 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cngb1):
     growth/size/body  mortality/aging  nervous system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with CNGB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CNGB1: Cngb1tm1Sjpi Cngb1tm1.1Biel Cngb1tm1Hazh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNGB1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNGB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNGB1

    miRNA
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    miRTarBase miRNAs that target CNGB1:
    hsa-mir-335-5p (MIRT017103), hsa-mir-125b-5p (MIRT045902)

    Block miRNA regulation of human, mouse, rat CNGB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNGB1 (see all 22):
    hsa-miR-185* hsa-miR-661 hsa-miR-629* hsa-miR-7-1* hsa-miR-3116 hsa-miR-15b* hsa-miR-34b hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmidCNGB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CNGB1
    Predesigned siRNA for gene silencing in human, mouse, rat CNGB1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CNGB1_HUMAN, Q14028: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IBA--
    GO:0016020membrane ----
    GO:0017071intracellular cyclic nucleotide activated cation channel complex IEA--
    GO:0043195terminal bouton IEA--

    Find genes that share ontologies with CNGB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CNGB1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Phototransduction0.51
    Activation of the phototransduction cascade0.00
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    4Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    5Olfactory Signaling Pathway
    Olfactory transduction0.82


    Find genes that share SuperPaths with CNGB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CNGB1 (see all 9)
        Cellular Effects of Sildenafil
    Cholera Infection
    PKA Signaling
    eNOS Signaling
    cAMP Pathway

    2 Reactome Pathways for CNGB1
        Activation of the phototransduction cascade
    Inactivation, recovery and regulation of the phototransduction cascade


    2 Kegg Pathways  (Kegg details for CNGB1):
        Olfactory transduction
    Phototransduction

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGB1: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNGB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CNGB1 (Q140281, 2, 3 ENSP000002511024) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA4P783633, ENSP000003592454I2D: score=2 STRING: ENSP00000359245
    PNNQ9H3073, ENSP000002168324I2D: score=1 STRING: ENSP00000216832
    PRPH2P239423, ENSP000002303814I2D: score=1 STRING: ENSP00000230381
    SRRM1Q8IYB33, ENSP000003262614I2D: score=1 STRING: ENSP00000326261
    CNGA1ENSP000003842644STRING: ENSP00000384264
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7682292
    GO:0007601visual perception IEA--
    GO:0007602phototransduction ----
    GO:0007603phototransduction, visible light TAS--
    GO:0007608sensory perception of smell IEA--

    Find genes that share ontologies with CNGB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CNGB1

    1 HMDB Compound for CNGB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    7 Novoseek inferred chemical compound relationships for CNGB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cgmp 57 1 8569074 (1)
    amiloride 52.5 2 10489424 (1), 15308494 (1)
    sodium 18.3 2 10489424 (1), 9124526 (1)
    potassium 11.8 2 8938713 (1), 15308494 (1)
    glutamate 6.21 3 11641407 (1), 9666999 (1), 14977628 (1)
    oligonucleotide 5.21 1 8938713 (1)
    calcium 0 2 1375539 (1)



    Find genes that share compounds with CNGB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CNGB1 gene (3 alternative transcripts): 
    NM_001135639.1  NM_001286130.1  NM_001297.4  

    Unigene Cluster for CNGB1:

    Cyclic nucleotide gated channel beta 1
    Hs.147062  [show with all ESTs]
    Unigene Representative Sequence: NM_001297
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564448(uc002emt.2 uc010cdh.2) ENST00000251102 ENST00000565942
    ENST00000569643 ENST00000564450 ENST00000564654 ENST00000311183(uc002emu.2)
    ENST00000562761 ENST00000567568
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CNGB1 (see all 22):
    hsa-miR-185* hsa-miR-661 hsa-miR-629* hsa-miR-7-1* hsa-miR-3116 hsa-miR-15b* hsa-miR-34b hsa-miR-362-5p
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CNGB1
      QuantiFast Probe-based Assays in human, mouse, rat CNGB1

    Additional mRNA sequence: 

    AF042498.1 U18945.1 U58837.1 

    8 DOTS entries:

    DT.100748194  DT.211738  DT.91701171  DT.97835476  DT.91721942  DT.97831744  DT.211737  DT.99950628 

    Selected AceView cDNA sequences (see all 34):

    CR626336 BM672421 BU727593 BQ639921 BU727367 BM706618 BM672790 BQ639313 
    AA317468 BQ638084 AF042498 BM687240 AU119745 BX954496 BM686415 BM662910 
    NM_001297 AL120448 AA019401 BX119808 U58837 AA318018 AU137778 AL120239 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNGB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGGAGGAC
    CNGB1 Expression
    About this image


    CNGB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Endothelial Cells Blood Brain Barrier
    CNGB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNGB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147062
        Pathway & Disease-focused RT2 Profiler PCR Array including CNGB1: 
              Hypertension in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CNGB1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cngb15 cyclic nucleotide gated channel beta 1   --   8 (47.12 cM) 95239045 
    chicken
    (Gallus gallus)
    Aves CNGB11 cyclic nucleotide gated channel beta 1 69.72(n)
    66.48(a)
      768759  XM_001231877.3  XP_001231878.3 
    zebrafish
    (Danio rerio)
    Actinopterygii cngb1a6
    CNGB1 (1 of 2)6
    cyclic nucleotide gated channel beta 1
    63(a)
    40(a)
    1 ↔ many
    1 ↔ many
    18(43916999-43933739) ENSDARG00000068242
    25(17867971-17912035) ENSDARG00000042107
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179223 intracellular cyclic nucleotide
    activated cation more
    45(a)   57F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea tax-21 tax-2 44.79(n)
    39.15(a)
      172723  NM_060026.5  NP_492427.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNGB1 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH22  KCNH72  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    3 SIMAP similar genes for CNGB1 using alignment to 3 protein entries:     CNGB1_HUMAN (see all proteins):
    CNGB3    CNGA3    CNGA4

    Find genes that share paralogs with CNGB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNGB1 (see all 2377)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0604914
    Retinitis pigmentosa 45 (RP45)4--see VAR_0604912 G V mis40--------
    rs1219185321,2
    Cpathogenic158943223(-) TCAGGA/G/TGGAGA 2 G V mis10--------
    rs1120028181,2
    C,Funtested158946847(+) AGAGTG/ACGACT 2 /A /V mis13Minor allele frequency- A:0.05NA EU 1445
    rs1378539021,2
    Cuntested158949178(-) GAACCG/ACGTCA 2 /H /R mis11Minor allele frequency- A:0.00EU 1295
    rs104598091,2,,4
    C,F,A,Huntested158960629(+) CAGGAG/TGCTGA 2 I L mis1 ese322Minor allele frequency- T:0.09NS EA NA CSA WA EU 3126
    rs129272141,2,,4
    C,F,Huntested158968613(+) CAACCA/GCTGGG 2 A V mis1 ese318Minor allele frequency- G:0.07NS EA NA WA EU 3483
    rs99259731,2
    C,F,Huntested158977079(+) GGTGGC/TGGCAA 2 P syn1 ese37Minor allele frequency- T:0.01NS EA WA EU 1933
    rs1414081371,2
    C--43783332(+) AAAGC-/TTTTTT 1 -- ds50010--------
    rs718635261,2
    C--43783333(+) AAAGC-/TTTTTT 1 -- ut310--------
    rs30382491,2
    C--43797552(-) tattt-/ATTT  
            
    tgaga
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CNGB1 (57916244 - 58005020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CNGB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv103820CNV Insertion16902084
    dgv2875n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CNGB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNGB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CNGB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600724   
    OMIM disorders: 613767  
    UniProtKB/Swiss-Prot: CNGB1_HUMAN, Q14028
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for CNGB1:    
    About MalaCards
    cngb1-related retinitis pigmentosa    retinitis pigmentosa 45    achromatopsia    leber congenital amaurosis

    1 disease from the University of Copenhagen DISEASES database for CNGB1:
    Retinitis pigmentosa

    Find genes that share disorders with CNGB1           About GenesLikeMe

    1 Novoseek inferred disease relationship for CNGB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 48.3 1 20126465 (1)

    Genetic Association Database (GAD): CNGB1
    Human Genome Epidemiology (HuGE) Navigator: CNGB1 (3 documents)

    Export disorders for CNGB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CNGB1 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with CNGB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP- gated channel. (PubMed id 7590744)1, 2, 3, 9 Ardell M.D.... Pittler S.J. (Genomics 1995)
    2. The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit. (PubMed id 8766832)1, 2, 3 Ardell M.D....Pittler S.J. (FEBS Lett. 1996)
    3. A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. (PubMed id 7682292)1, 2, 9 Chen T.-Y.... Yau K.-W. (Nature 1993)
    4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    5. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    6. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    7. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)1, 3 Hofmann F....Kaupp U.B. (Pharmacol. Rev. 2005)
    8. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. (PubMed id 11379879)1, 2 Bareil C....Claustres M. (Hum. Genet. 2001)
    9. Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin. (PubMed id 9535905)1, 2 Grunwald M.E.... Yau K.W. (J. Biol. Chem. 1998)
    10. The retinitis pigmentosa mutation c.3444+1G&gt;A in CNGB1 results in skipping of exon 32. (PubMed id 20126465)1, 9 Becirovic E....Michalakis S. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1258 HGNC: 2151 AceView: CNGB1 Ensembl:ENSG00000070729 euGenes: HUgn1258
    ECgene: CNGB1 Kegg: 1258 H-InvDB: CNGB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CNGB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CNGB1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNGB1 gene:
    Search GeneIP for patents involving CNGB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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