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

CNGB1 Gene

protein-coding   GIFtS: 60
GCID: GC16M058001

cyclic nucleotide gated channel beta 1


(Previous symbols: CNCG2, CNCG3L)
 Explore 14 diseases affiliated with
CNGB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CNGB1    

Aliases
for CNGB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cyclic Nucleotide Gated Channel Beta 11 2     Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit2 3
CNCG21 2 3 5     Cyclic Nucleotide-Gated Channel Beta-12 3
CNCG3L1 2 3 5     Glutamic Acid-Rich Protein2 3
GARP1 2 3     CNCG42 3
RCNC21 2 3     CNG-42 3
RP451 2 5     CNG42 3
CNGB1B1 2     CNG Channel Beta-12 3
GAR11 2     RCNCbeta2
RCNCb1 2     Cyclic Nucleotide-Gated Cation Channel Beta-12
Cyclic Nucleotide-Gated Cation Channel 42 3     Glutamic-Acid-Rich Protein2
Cyclic Nucleotide-Gated Cation Channel Gamma2 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


Summaries
for CNGB1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
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 plasmid: CNGB1 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

Proteins
for CNGB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: Heterooligomeric complex with CNGA1
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14028

    • CNGB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000454633   ENSP00000251102   ENSP00000455964   ENSP00000311670   ENSP00000455708  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0017071intracellular cyclic nucleotide activated cation channel complex NAS--


    CNGB1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CNGB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CNGB1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for CNGB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNGB1
    8/22 QIAGEN miScript miRNA 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 plasmid: CNGB1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: CNGB1
    OriGene siRNA: CNGB1
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for CNGB1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005222intracellular cAMP activated cation channel activity NAS--
    GO:0015276ligand-gated ion channel activity TAS7682292
    GO:0030552cAMP binding IEA--


    CNGB1 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for CNGB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		PKA Signaling0.56
    		cAMP Pathway0.77
    2Sweet Taste Signaling
    		Cellular Effects of Sildenafil0.46
    		Sperm Motility0.36
    3Potassium transporters: inward current
    		Potassium transporters: inward current1.00
    4Visual Cycle in Retinal Rods
    		Visual Cycle in Retinal Rods1.00
    5Olfactory transduction
    		Olfactory transduction1.00

    Pathway sources
    See GeneCards unified pathways
    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


    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7682292
    GO:0007601visual perception TAS7682292
    GO:0007602phototransduction IEA--
    GO:0007608sensory perception of smell IEA--
    GO:0033365protein localization to organelle IEA--


    CNGB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CNGB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    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 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 

    Transcripts
    for CNGB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNGB1
    8/22 QIAGEN miScript miRNA 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 plasmid: CNGB1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CNGB1 (see all 4)
    OriGene shRNA RFP: CNGB1
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNGB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNGB1

    Additional cDNA 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):

    CR626336 BU727593 BU727367 BM672790 BM706618 BQ639921 BM672421 AA318018 
    AL120448 AL120239 BQ638084 BM662910 AA317468 BQ639313 AA019401 BM687240 
    AU119745 BM686415 AF042498 AU137778 BX954496 BX119808 BQ068992 NM_001297 

    GeneLoc Exon Structure


    Expression
    for CNGB1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATGGAGGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CNGB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB1

    Orthologs
    for CNGB1 gene

    (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 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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)    		 abnormal CHEmotaxis family member (tax-2)
    Cyclic Nucleotide Gated channel family member (cng...
    (see all 5)    		 28(a)
    17(a)
    (see all 5)    		 1 ↔ many
    possible ortholog
    (see all 5)    		 I(9020938-9025546)
    V(15025723-15031616)


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

    Paralogs
    for CNGB1 gene

    (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  HCN22  KCNH42  CNGA22  
    CNGA12  HCN12  KCNH72  KCNH22  CNGA42  CNGA32  CNGB32  KCNH12  
    KCNH82  
    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



    Genomic Variants
    for CNGB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1855 NCBI SNPs in CNGB1 are shown (see all 1855)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1120028181,2
    		C,F,untested43802376(+) AGAGTG/ACGACT 2 /A /V mis13Minor allele frequency- A:0.05NA EU 1445
    rs1378539021,2
    		C,untested43804707(-) GAACCG/ACGTCA 2 /H /R mis11Minor allele frequency- A:0.00EU 1295
    rs99259731,2
    		C,F,H,untested43832609(+) GGTGGC/TGGCAA 2 P syn1 ese37Minor allele frequency- T:0.01NS EA WA EU 1933
    rs129272141,2
    		C,F,H,untested57957216(+) CAACCA/GCTGGG 2 A V mis1 ese318Minor allele frequency- G:0.07NS EA NA WA EU 3483
    rs72010411,2
    		C,H,--43783019(+) ATTGCC/GGTCAT 1 -- ds50017Minor allele frequency- G:0.02NS EA NA WA 424
    rs1116463541,2
    		C,--43783236(+) ACCAAG/AGAAGC 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs787889381,2
    		F--43783576(+) GGCCTC/ATGAGC 1 -- ut311Minor allele frequency- A:0.50NA 4
    rs789085171,2
    		F,--43783707(+) TTTAAT/CCACTC 1 -- ut311Minor allele frequency- C:0.07EA 120
    rs286065031,2
    		--43783804(+) TTTTTC/TTTTTT 1 -- ut310--------
    rs99349161,2
    		C,F,A,H,--43783876(+) TGCTGT/GCATCA 1 -- ut3116Minor allele frequency- G:0.12NS EA NA WA CSA 1876

    HapMap Linkage Disequilibrium report for CNGB1 (57916244 - 58005020 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CNGB1: --
    Human Gene Mutation Database (HGMD): CNGB1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNGB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CNGB1

    Disorders / Diseases
    for CNGB1 gene

    (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.)
    About This Section
    CNGB1 for disorders           About GeneDecksing

    OMIM gene information: 600724   
    OMIM disorders: 268000  
    UniProtKB/Swiss-Prot: CNGB1_HUMAN, Q14028
  • Defects in CNGB1 are the cause of retinitis pigmentosa type 45 (RP45) [MIM:613767]. RP leads to degeneration
    • of retinal photoreceptor cells. 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

    14 diseases for CNGB1:    About MalaCards
    retinitis pigmentosa    retinitis pigmentosa-45    retinitis    status epilepticus
    achromatopsia    retinal degeneration    retinal disease    blindness
    breast carcinoma    prostate cancer    hypertension    prostatitis
    carcinoma    neuronitis

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: CNGB1 (3 documents)

    Export disorders for CNGB1 gene to outside databases

    Publications
    for CNGB1 gene

    (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 65):
    (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. 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)
    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. (PubMed id 11379879)1, 2 Bareil C....Claustres M. (2001)
    6. 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)
    7. 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)
    8. The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes. (PubMed id 11641407)1, 9 Poetsch A....Molday R.S. (2001)
    9. Channel modulation and the mechanism of light adaptat ion in mouse rods. (PubMed id 21123569)1 Chen J....Fain G.L. (2010)
    10. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1 Booij J.C....Florijn R.J. (2010)

    External Searches for CNGB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing CNGB1 gene

    (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

    Other Databases showing CNGB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CNGB1 gene

    (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

    Intellectual Property
    for CNGB1 gene

    (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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