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CNGB3 Gene

protein-coding   GIFtS: 58
GCID: GC08M087566

Cyclic Nucleotide Gated Channel Beta 3

(Previous names: achromatopsia (rod monochromacy) 3, achromatopsia (rod monochromacy)...)
(Previous symbols: ACHM3, ACHM1, RMCH)
  See CNGB3-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 31 2     Achromatopsia (Rod Monochromacy) 11
ACHM11 2 5     Achromatopsia (Rod Monochromacy) 31
Cyclic Nucleotide-Gated Cation Channel Modulatory Subunit2 3     Cone Photoreceptor CGMP-Gated Cation Channel Beta-Subunit2
CNG Channel Beta-32 3     Cyclic Nucleotide-Gated Cation Channel Beta-32
ACHM31 5     Cone Photoreceptor CGMP-Gated Channel Subunit Beta3
RMCH1     Cyclic Nucleotide-Gated Channel Beta-33

External Ids:    HGNC: 21531   Entrez Gene: 547142   Ensembl: ENSG000001702897   OMIM: 6050805   UniProtKB: Q9NQW83   

Export aliases for CNGB3 gene to outside databases

Previous GC identifers: GC08M086090 GC08M087318 GC08M087542 GC08M087541 GC08M087655 GC08M082795


(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 CNGB3 Gene:
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to
play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary
for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone
dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. (provided by RefSeq, Feb 2010)

GeneCards Summary for CNGB3 Gene:
CNGB3 (cyclic nucleotide gated channel beta 3) is a protein-coding gene. Diseases associated with CNGB3 include stargardt macular degeneration, and stargardt disease, autosomal recessive. GO annotations related to this gene include intracellular cAMP activated cation channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8
Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger.
This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a
depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in
the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency
of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked
electrical responses in the red-, green- and blue sensitive cones

Gene Wiki entry for CNGB3 (Cyclic nucleotide gated channel beta 3) 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_000008.10  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNGB3 gene promoter:
         USF1   GATA-3   Brachyury   GATA-1   GATA-2   HNF-1A   MEF-2A   HNF-1   USF-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNGB3 promoter sequence
   Search Chromatin IP Primers for CNGB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNGB3


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

Entrez Gene cytogenetic band: 8q21.3   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21.3

CNGB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNGB3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M087566:  view genomic region     (about GC identifiers)

Start:
87,566,205 bp from pter      End:
87,755,903 bp from pter
Size:
189,699 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8 (See protein sequence)
Recommended Name: Cyclic nucleotide-gated cation channel beta-3  
Size: 809 amino acids; 92167 Da
Subunit: Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits
Sequence caution: Sequence=AAF80179.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: C9JA51 Q9NRE9
Alternative splicing: 2 isoforms:  Q9NQW8-1   Q9NQW8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNGB3: NX_Q9NQW8

Explore proteomics data for CNGB3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn468
  • Modification sites at PhosphoSitePlus

  • See CNGB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061971.3  
    ENSEMBL proteins: 
     ENSP00000428329   ENSP00000316605  

    CNGB3 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 CNGB3 

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    Abcam antibodies for CNGB3
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    LSBio Antibodies in human, mouse, rat for CNGB3

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for CNGB3 


    (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: CNGB3
    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 Q9NQW8

    ProtoNet protein and cluster: Q9NQW8

    1 Blocks protein domain: IPB000595 Cyclic nucleotide-binding domain

    UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8
    Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain


    Find genes that share domains with CNGB3           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: CNGB3_HUMAN, Q9NQW8
    Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger.
    This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a
    depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in
    the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency
    of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked
    electrical responses in the red-, green- and blue sensitive cones

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005222intracellular cAMP activated cation channel activity IBA--
    GO:0005223intracellular cGMP activated cation channel activity IBA--
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005515protein binding ----
    GO:0030553cGMP binding IBA--
         
    Find genes that share ontologies with CNGB3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cngb3):
     cellular  nervous system  vision/eye 

    Find genes that share phenotypes with CNGB3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cngb3tm1Dgen for CNGB3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNGB3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CNGB3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNGB3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNGB3

    miRNA
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    Block miRNA regulation of human, mouse, rat CNGB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNGB3 (see all 36):
    hsa-miR-549 hsa-miR-361-5p hsa-miR-3938 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCNGB3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CNGB3
    Predesigned siRNA for gene silencing in human, mouse, rat CNGB3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CNGB3 (NM_019098)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNGB3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB3


    (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
    CNGB3_HUMAN, Q9NQW8: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005887integral component of plasma membrane IBA--

    Find genes that share ontologies with CNGB3           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 CNGB3 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CNGB3 (see all 9)
        Cellular Effects of Sildenafil
    Cholera Infection
    PKA Signaling
    eNOS Signaling
    cAMP Pathway

    1 BioSystems Pathway for CNGB3
        Visual signal transduction- Cones


        Pathway & Disease-focused RT2 Profiler PCR Array including CNGB3: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNGB3

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

    Selected Interacting proteins for CNGB3 (ENSP000003166054) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNGA1ENSP000003842644STRING: ENSP00000384264
    CNGA3ENSP000002726024STRING: ENSP00000272602
    PDE6AENSP000002552664STRING: ENSP00000255266
    PDE6BENSP000004202954STRING: ENSP00000420295
    GUCY2DENSP000002548544STRING: ENSP00000254854
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS10888875
    GO:0007165signal transduction NAS10888875
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light IBA--
    GO:0042391regulation of membrane potential IBA--

    Find genes that share ontologies with CNGB3           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 CNGB3

    3 HMDB Compounds for CNGB3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--



    (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 CNGB3 gene: 
    NM_019098.4  

    Unigene Cluster for CNGB3:

    Cyclic nucleotide gated channel beta 3
    Hs.154433  [show with all ESTs]
    Unigene Representative Sequence: AF272900
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517327 ENST00000320005(uc010maj.3 uc003ydx.3) ENST00000519777

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CNGB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNGB3 (see all 36):
    hsa-miR-549 hsa-miR-361-5p hsa-miR-3938 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCNGB3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CNGB3
    Predesigned siRNA for gene silencing in human, mouse, rat CNGB3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNGB3 (NM_019098)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNGB3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNGB3
      QuantiTect SYBR Green Assays in human, mouse, rat CNGB3
      QuantiFast Probe-based Assays in human, mouse, rat CNGB3

    Additional mRNA sequence: 

    AF228520.1 AF272900.1 BC150601.1 DQ426865.1 

    2 DOTS entries:

    DT.40263981  DT.426629 

    Selected AceView cDNA sequences (see all 35):

    AA064798 AF228520 CA397799 BF725470 AA702094 BF725469 AV726367 AA723276 
    AL713036 AA069559 BI827605 AA718978 AA317961 BX118844 AF272900 NM_019098 
    BX104558 AA069498 AA707769 AA064967 H53424 AA708280 AA708483 AA065114 

    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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    CNGB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CNGB3 Expression
    About this image


    CNGB3 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)    fully expand to see all 4 entries
             Mature S Cone Cells Outer Nuclear Layer
     
     Neurons
             Mature S Cone Cells Outer Nuclear Layer
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Gonad
             Spermatid Seminiferous Tubules
    CNGB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNGB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154433

    UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8
    Tissue specificity: Expressed specifically in the retina

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGB3: 
              Hypertension in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGB3

    (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 CNGB3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cngb31 , 5 cyclic nucleotide gated channel beta 31, 5 79.19(n)1
    69.65(a)1
      4 (7.42 cM)5
    309521  NM_013927.21  NP_038955.11 
     192808505 
    chicken
    (Gallus gallus)
    Aves CNGB31 cyclic nucleotide gated channel beta 3 70.15(n)
    67.65(a)
      428367  XM_425928.4  XP_425928.4 
    lizard
    (Anolis carolinensis)
    Reptilia CNGB36
    cyclic nucleotide gated channel beta 3
    60(a)
    1 ↔ 1
    4(22722671-22755492)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cngb31 cyclic nucleotide gated channel beta 3 62.74(n)
    57.56(a)
      100497119  XM_002939156.2  XP_002939202.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cngb31 cyclic nucleotide gated channel beta 3 59.52(n)
    59.13(a)
      562675  XM_686050.4  XP_691142.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179223 intracellular cyclic nucleotide
    activated cation more
    40(a)   57F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea tax-26
    Protein TAX-2 (tax-2) mRNA, complete cds
    29(a)
    1 → many
    I(9020945-9025553) WBGene00006525


    ENSEMBL Gene Tree for CNGB3 (if available)
    TreeFam Gene Tree for CNGB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNGB3 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  KCNH82  
    KCNH12  
    5 SIMAP similar genes for CNGB3 using alignment to 4 protein entries:     CNGB3_HUMAN (see all proteins):
    CNGB1    CNGA3    CNGA2    CNGA1    CNGA4

    Find genes that share paralogs with CNGB3           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 CNGB3 (see all 3770)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353654131,2,,4
    C,FStargardt disease 1 (STGD1)4 pathogenic187800339(+) GGAGTA/CATTGT 2 D Y mis14Minor allele frequency- C:0.00NA 4632
    VAR_0181114
    Achromatopsia 3 (ACHM3)4--see VAR_0181112 S F mis40--------
    VAR_0476204
    Achromatopsia 3 (ACHM3)4--see VAR_0476202 L F mis40--------
    VAR_0476094
    Achromatopsia 3 (ACHM3)4--see VAR_0476092 K E mis40--------
    VAR_0476104
    Achromatopsia 3 (ACHM3)4--see VAR_0476102 S F mis40--------
    VAR_0476124
    Achromatopsia 3 (ACHM3)4--see VAR_0476122 P L mis40--------
    VAR_0476194
    Achromatopsia 3 (ACHM3)4--see VAR_0476192 G C mis40--------
    VAR_0476184
    Achromatopsia 3 (ACHM3)4--see VAR_0476182 F N mis40--------
    rs358074061,2,,4
    C,Funtested187914904(+) CTTCAT/CTCCGA 2 /N /S mis16Minor allele frequency- C:0.01NA EU 6074
    rs715742831,2
    C--82803749(+) TTATTAGAC/-  
            
    AGGAA
    1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for CNGB3 (87566205 - 87755903 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CNGB3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422239CNV Duplication17116639
    esv271865CNV Insertion20981092
    esv27647CNV Loss19812545
    nsv818641CNV Loss17921354
    esv28589CNV Loss19812545
    nsv891150CNV Gain21882294
    nsv891151CNV Gain21882294
    nsv465734CNV Gain19166990

    Human Gene Mutation Database (HGMD): CNGB3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNGB3
    DNA2.0 Custom Variant and Variant Library Synthesis for CNGB3

    (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

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    OMIM gene information: 605080   
    OMIM disorders: 262300  248200  
    UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8
  • Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized
    by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent
    presence of prominent flecks in the posterior pole of the retina. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning
    cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia
    and nystagmus. Achromatopsia type 3 patients manifest severe myopia. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for CNGB3:    
    About MalaCards
    stargardt macular degeneration    stargardt disease, autosomal recessive    achromatopsia 3    cngb3-related stargardt disease 1
    warburg micro syndrome 3    fundus flavimaculatus    achromatopsia    retinal dystrophy, early-onset, severe
    cone dystrophy 3    warburg micro syndrome    micro syndrome    achromatopsia 2
    oligocone trichromacy    stargardt disease    blue cone monochromacy    color blindness
    congenital nystagmus

    4 diseases from the University of Copenhagen DISEASES database for CNGB3:
    Achromatopsia     Color blindness     Congenital nystagmus     Blue cone monochromacy

    Find genes that share disorders with CNGB3           About GenesLikeMe

    1 Novoseek inferred disease relationship for CNGB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    achromatopsia 98.3 28 15657609 (3), 20079539 (2), 16319819 (2), 17652762 (2) (see all 17)

    GeneTests: CNGB3
    GeneReviews: CNGB3
    Genetic Association Database (GAD): CNGB3
    Human Genome Epidemiology (HuGE) Navigator: CNGB3 (4 documents)

    Export disorders for CNGB3 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

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    PubMed articles for CNGB3 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with CNGB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (PubMed id 15657609)1, 2, 4, 9 Kohl S....Wissinger B. (Eur. J. Hum. Genet. 2005)
    2. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21. (PubMed id 10958649)1, 2, 3, 9 Kohl S.... Wissinger B. (Hum. Mol. Genet. 2000)
    3. Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)1, 2, 3 Sundin O.H.... Maumenee I.H. (Nat. Genet. 2000)
    4. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PubMed id 19592100)1, 4, 9 Thiadens A.A....Klaver C.C. (Ophthalmology 2009)
    5. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PubMed id 15712225)1, 2, 9 Nishiguchi K.M.... Dryja T.P. (Hum. Mutat. 2005)
    6. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)1, 2, 9 Johnson S.... Hunt D.M. (J. Med. Genet. 2004)
    7. 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)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. 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)
    10. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. (PubMed id 19767295)1, 9 Ding X.Q....Barlow R.B. (Hum. Mol. Genet. 2009)

    (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)
    About This Section

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    Entrez Gene: 54714 HGNC: 2153 AceView: CNGB3 Ensembl:ENSG00000170289 euGenes: HUgn54714
    ECgene: CNGB3 H-InvDB: CNGB3

    (According to HUGE)
    About This Section

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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 CNGB3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CNGB3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CNGB3[genesymbol]

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

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    Patent Information for CNGB3 gene:
    Search GeneIP for patents involving CNGB3

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



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