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CNGB3 Gene

protein-coding   GIFtS: 59

GC08M087655
cyclic nucleotide gated channel beta 3
(Previous name: achromatopsia (rod monochromacy) 3 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ACHM3)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ACHM1 2, 5
ACHM3 2, 5
RMCH 2
RMCH1 2
Descriptions
CNG channel beta-3 3
Cone photoreceptor cGMP-gated channel subunit beta 3
Cyclic nucleotide-gated cation channel modulatory subunit 2, 3
Cyclic nucleotide-gated channel beta-3 3
achromatopsia (rod monochromacy) 3 1
cone photoreceptor cGMP-gated cation channel beta-subunit 2
cyclic nucleotide gated channel beta 3 2
External Ids
HGNC: 21531
Entrez Gene: 547142
UniProtKB: Q9NQW83
Ensembl: ENSG000001702897
Search outside databases for aliases for CNGB3 gene

Previous GC identifers: GC08M086090 GC08M087318 GC08M087542 GC08M087541

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

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CNGB3 gene  

Entrez Gene cytogenetic band: 8q21-q22   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)

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M087655:     (about GC identifiers)

Start:
87,655,277 bp from pter
End:
87,825,017 bp from pter
Size:
169,741 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000008.9  NT_008046.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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; 92250 Da
Subunit: Heterooligomeric complex with CNGA3
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q9NRE9
Alternative splicing: 2 isoforms:  Q9NQW8-1   Q9NQW8-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_061971.3  

    ENSEMBL proteins: 
    ENSP00000316605 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750 photoreceptor outer segment IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for CNGB3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for CNGB3

    Assays for CNGB3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR018488 cNMP_bd_CS
     IPR005821 Ion_trans
     IPR000595 cNMP_bd
     IPR014710 RmlC-like_jellyroll


       GeneDecks  CNGB3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NQW8

    ProtoNet protein and cluster: Q9NQW8

    1 Blocks protein family: 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
    Similarity: Contains 1 cyclic nucleotide-binding domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CNGB3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CNGB3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019098

                  Applied Biosystems Silencer® siRNAs for CNGB3

                  Sigma-Aldrich siRNA and siRNA Panels for CNGB3  
                         Sigma-Aldrich shRNA Panels and shRNA for CNGB3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_019098
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_019098
                                     untagged cDNA clone in CMV expression vector: NM_019098 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_019098

    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

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005216 ion channel activity IEA--
    GO:0005223 intracellular cGMP activated cation channel activity IEA--
    GO:0005515 protein binding IEA--
    GO:0030553 cGMP binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for CNGB3
      inward current

       GeneDecks  CNGB3 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  CNGB3  (Your Favorite Gene powered by Ingenuity) 
     Phototransduction Pathway
     cAMP-mediated Signaling

       GeneDecks  CNGB3 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  CNGB3 

      --

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0007165 signal transduction NAS10888875
    GO:0007601 visual perception TAS10888875
    GO:0050896 response to stimulus IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for CNGB3
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for CNGB3

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CNGB3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (CNGB3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019098

                  Sigma-Aldrich siRNA and siRNA Panels for CNGB3  
                         Sigma-Aldrich shRNA Panels and shRNA for CNGB3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_019098  

    REFSEQ mRNAs for CNGB3 gene: 

    NM_019098.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_019098  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_019098
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_019098
                                     untagged cDNA clone in CMV expression vector: NM_019098 

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.40263981  DT.426629 

    24/35 AceView cDNA sequences (see all 35 ):

    AA064798 AF228520 BF725469 CA397799 AA702094 BF725470 AA069559 AA718978 
    AV726367 AA723276 NM_019098 H53424 AL713036 BI827605 BX104558 AA707769 
    BX118844 AA317961 AF272900 AA064967 AA069498 AA701157 AA704625 AA708280 

    highest scoring ESTs for CNGB3:

    AA064756 AF272900 AL713036 AA012972 AA064759 AA064798 AA064814 AA064967 AA065114 AA069498 

    Unigene Cluster for CNGB3:

    Cyclic nucleotide gated channel beta 3
    Hs.154433  [show with all ESTs]
    Unigene Representative Sequence: AF272900


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000320005  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CNGB3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CNGB3

    1 / 2 / 3

    6 probe-sets matching CNGB3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    55905_r_at2, 3 U95-C 1 0.94 1.00 0.58 0.25 AA064756 0.80 1.00 0.91 1

    55100_at2, 3 U95-C 1 0.56 1.00 1.00 1.00 AI150392 0.60 1.00 0.82 1

    222959_at2, 3 U133-B 1 1.00 1.00 -- -- AF272900 0.80 1.00 0.91 1

    220304_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_019098 0.60 1.00 0.82 1

    222959_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    220304_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.154433

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CNGB3 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CNGB31   -- cyclic nucleotide gated channel beta 3 85.85(n)
    79.1(a)
    403554  NM_001003030.1  NP_001003030.1 
    chimpanzee
    (Pan troglodytes)
    CNGB31   -- cyclic nucleotide gated channel beta 3 99.09(n)
    99.13(a)
    464272  XM_519846.2  XP_519846.2 
    cow
    (Bos taurus)
    CNGB31   -- cyclic nucleotide gated channel beta 3 82.36(n)
    77.14(a)
    519225  XM_597439.3  XP_597439.3 
    rat
    (Rattus norvegicus)
    Cngb31   -- cyclic nucleotide gated channel beta 3 79.07(n)
    70.2(a)
    500418  XM_575779.2  XP_575779.2 
    mouse
    (Mus musculus)
    Cngb31, 5 45
    cyclic nucleotide gated channel beta 31, 5 79.24(n)1
    69.65(a)1
    309521  NM_013927.21  NP_038955.11 
     AJ2435725  AK0401405  (see all 9)
    About this table        Species with no ortholog for CNGB3

    ENSEMBL Gene Tree for CNGB3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CNGB3 gene
    CNGB12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/942 NCBI SNPs in CNGB3 are shown (see all 942 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 305)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 8 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs9901931,2
    A,C,F,H,O87655267(-) GCTCTC/TGTCAC 1 -- ng517Minor allele frequency- T:0.15EU EA WA NA 560
    rs9901921,2
    A,C,F,H,O87655509(-) TTTCGA/CCTGGC 1 -- ut318Minor allele frequency- C:0.41MN EU EA WA NA 740
    rs49612061,2
    A,C,F,H87735367(+) TTTTGG/TAGAAG 1 T/P mis1 ese320Minor allele frequency- T:0.29EU EA WA NS NA 1404
    rs78124961,2
    A,C,F,H87825007(+) TATTTA/CTGACT 1 -- ut517Minor allele frequency- C:0.10NA EU EA WA 552
    rs176832841,2
    C,F,H87655845(+) TGACTC/TTATCA 1 -- ut3115Minor allele frequency- T:0.02NA EU EA WA 1400
    rs169166321,2
    C,F,H87749398(+) TAATTC/TGCTTT 1 R/Q mis112Minor allele frequency- T:0.06NA EU EA WA 1044
    rs64714821,2
    C,F,H87748419(+) ATAAAC/ACAGCA 1 W/C mis1 ese312Minor allele frequency- A:0.05NA EU EA WA 1058
    rs169158591,2
    C,F,H87656370(+) CCTGTA/GTCCTC 1 -- ut31 ese37Minor allele frequency- G:0.02NA EU EA WA 562
    rs109569551,2
    A,C,F87825567(+) TGTCAC/ATTTTG 1 -- ng313Minor allele frequency- A:0.36NA 142
    rs37359721,2
    C,F,H87657314(-) ACCTGA/GATGTA 1 E/G mis1 ese312Minor allele frequency- G:0.09EU EA WA NA 1202
    About this table

    HapMap Linkage Disequilibrium images for CNGB3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605080   disorders: 262300  248200  

    UniProtKB/Swiss-Prot: CNGB3_HUMAN, Q9NQW8

  • Defects in CNGB3 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is
    one of the most frequent causes of macular degeneration in childhood. It is characterized by
    macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral
    retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal
    recessive
  • Defects in CNGB3 are the cause of achromatopsia type 3 (ACHM3) [MIM:262300]; also known as
    Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total
    colorblindness mainly because of the consistent concurrence of severe myopia
  • 1 Novoseek disease relationship for CNGB3 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    achromatopsia 97.74 21 15657609 (3), 16319819 (2), 17265047 (2), 12815043 (2) (see all 12)
    About this table

    GeneTests: CNGB3
    Achromatopsia

    Human Gene Mutation Database: CNGB3
    Genetic Association Database: CNGB3
    Human Genome Epidemiology Navigator: CNGB3 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/31 PubMed articles for CNGB3 gene (see all 31 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 54714 HGNC: 2153 AceView: CNGB3 Ensembl:ENSG00000170289 euGenes: HUgn54714
    ECgene: CNGB3 H-InvDB: CNGB3
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for CNGB3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=CNGB3
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for CNGB3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for CNGB3 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for CNGB3 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Drugs for CNGB3
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     Search Novus for antibodies for CNGB3

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