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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNGB1 Gene

protein-coding   GIFtS: 63
GCID: GC16M058001

Cyclic Nucleotide Gated Channel Beta 1


(Previous symbols: CNCG2, CNCG3L)
  See 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)
About This Section

Aliases
Cyclic Nucleotide Gated Channel Beta 11 2     GARP2 3
CNCG21 2 3 5     RCNC22 3
CNCG3L1 2 3 5     CNG Channel Beta-12 3
Glutamic Acid-Rich Protein1 2 3     RP452 5
Cyclic Nucleotide-Gated Cation Channel 42 3     CNGB1B2
Cyclic Nucleotide-Gated Cation Channel Gamma2 3     GAR12
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

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 GC16M057652 GC16M057692 GC16M056475 GC16M043783


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jan 2010)

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 rhyns syndrome, and among its related super-pathways are Visual signal transduction- Rods and Activation of cAMP-Dependent PKA. GO annotations related to this gene include cAMP binding and intracellular cAMP activated cation 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CNGB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC16M058001:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O43636 Q13059 Q14029 Q9UMG2
Alternative splicing: 3 isoforms:  Q14028-1   Q14028-2   Q14028-3   (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14028

  • CNGB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CNGB1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001129111.1  NP_001288.3  

    ENSEMBL proteins: 
     ENSP00000454633   ENSP00000251102   ENSP00000455964   ENSP00000311670   ENSP00000455708  
    Reactome Protein details: Q14028
    Human Recombinant Protein Products for CNGB1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IBA--
    GO:0016020membrane ----
    GO:0017071intracellular cyclic nucleotide activated cation channel complex NAS--

    CNGB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    CNGB1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005222intracellular cAMP activated cation channel activity NAS--
    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
         
    CNGB1 for ontologies           About GeneDecksing


    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  mortality/aging  nervous system  taste/olfaction  vision/eye 

    CNGB1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidCNGB1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CNGB1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual signal transduction- Rods
    The phototransduction cascade0.54
    Phototransduction0.46
    Inactivation, recovery and regulation of the phototransduction cascade0.51
    Activation of the phototransduction cascade0.38
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    4Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    5Olfactory transduction
    Olfactory transduction0.81

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CNGB1
        Potassium transporters- inward current

    5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CNGB1 (see all 9)
        Cellular Effects of Sildenafil
    Cholera Infection
    PKA Signaling
    eNOS Signaling
    cAMP Pathway

    5/7        Reactome Pathways for CNGB1 (see all 7)
        Diseases associated with visual transduction
    Activation of the phototransduction cascade
    The phototransduction cascade
    Signal Transduction
    Visual phototransduction


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


    CNGB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNGB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/15 Interacting proteins for CNGB1 (Q140282, 3 ENSP000002511024) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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
    CNGA2ENSP000003284784STRING: ENSP00000328478
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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--

    CNGB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CNGB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CNGB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CNGB1 gene (2 alternative transcripts): 
    NM_001135639.1  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
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    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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      QIAGEN 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 

    24/34 AceView cDNA sequences (see all 34):

    BQ639921 CR626336 BM672790 BM706618 BU727593 BU727367 BM672421 BX119808 
    AA317468 BX954496 NM_001297 BQ638084 AU119745 BQ639313 BQ068992 AL120448 
    U58837 AA019401 AF042498 AL120239 AA318018 BM686415 BM662910 BM687240 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CNGB1 expression in normal human tissues (normalized intensities)      CNGB1 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Endothelial Cells Blood Brain Barrier

    See CNGB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CNGB1

    SOURCE GeneReport for Unigene cluster: Hs.147062
        SABiosciences Expression via Pathway-Focused PCR Array including CNGB1: 
              Hypertension in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CNGB1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cngb11 , 5 cyclic nucleotide gated channel beta 11, 5 77.58(n)1
    76.43(a)1
      8 (47.12 cM)5
    3333291  NM_001195413.11  NP_001182342.11 
     952390435 
    chicken
    (Gallus gallus)
    Aves CNGB11 cyclic nucleotide gated channel beta 1 64.99(n)
    58.92(a)
      768759  XM_001231877.2  XP_001231878.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cngb1a1 cyclic nucleotide gated channel beta 1a 63.14(n)
    60.47(a)
      568211  XM_691527.5  XP_696619.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179223 intracellular cyclic nucleotide
    activated cation more
    45(a)   57F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea tax-26
    cng-16
    (see all 5)
    Protein CNG-1, isoform b
    (see all 5)
    28(a)
    20(a)
    (see all 5)
    1 ↔ many
    possible ortholog
    (see all 5)
    I(9020945-9025553)
    V(15025740-15030250)


    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)
    About This Section
    Paralogs for CNGB1 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA22  
    CNGA12  HCN12  KCNH22  KCNH72  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    5 SIMAP similar genes for CNGB1 using alignment to 4 protein entries:     CNGB1_HUMAN (see all proteins):
    CNGB3    CNGA2    CNGA1    CNGA3    CNGA4

    CNGB1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2377 SNPs in CNGB1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600724   
    OMIM disorders: 268000  
    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

  • 14 diseases for CNGB1:    About MalaCards
    cngb1-related retinitis pigmentosa    rhyns syndrome    achromatopsia    retinitis pigmentosa
    status epilepticus    retinitis    retinal disease    retinal degeneration
    blindness    cholera    hypertension    prostate cancer
    prostatitis    neuronitis

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

    CNGB1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CNGB1 gene, integrated from 9 sources (see all 67):
    (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. (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. (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. (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. (2010)
    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. (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. (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. (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. (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. (1998)
    10. The retinitis pigmentosa mutation c.3444+1G>A in C NGB1 results in skipping of exon 32. (PubMed id 20126465)1, 9 Becirovic E....Michalakis S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1258 HGNC: 2151 AceView: CNGB1 Ensembl:ENSG00000070729 euGenes: HUgn1258
    ECgene: CNGB1 Kegg: 1258 H-InvDB: CNGB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CNGB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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