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Q9NQW8

- CNGB3_HUMAN

UniProt

Q9NQW8 - CNGB3_HUMAN

Protein

Cyclic nucleotide-gated cation channel beta-3

Gene

CNGB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    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.By similarity1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei592 – 5921cGMPBy similarity
    Binding sitei604 – 6041cGMPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi532 – 676145cGMPBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. cGMP binding Source: UniProt
    2. intracellular cAMP activated cation channel activity Source: RefGenome
    3. intracellular cGMP activated cation channel activity Source: UniProt
    4. voltage-gated potassium channel activity Source: RefGenome

    GO - Biological processi

    1. cation transport Source: UniProt
    2. phototransduction, visible light Source: RefGenome
    3. potassium ion transmembrane transport Source: RefGenome
    4. regulation of membrane potential Source: RefGenome
    5. signal transduction Source: ProtInc
    6. transport Source: ProtInc
    7. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel

    Keywords - Biological processi

    Ion transport, Sensory transduction, Transport, Vision

    Keywords - Ligandi

    cGMP, cGMP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cyclic nucleotide-gated cation channel beta-3
    Alternative name(s):
    Cone photoreceptor cGMP-gated channel subunit beta
    Cyclic nucleotide-gated cation channel modulatory subunit
    Cyclic nucleotide-gated channel beta-3
    Short name:
    CNG channel beta-3
    Gene namesi
    Name:CNGB3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:2153. CNGB3.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: RefGenome
    2. photoreceptor outer segment Source: Ensembl
    3. transmembrane transporter complex Source: UniProt

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti469 – 4691Y → D in STGD1. 1 Publication
    Corresponds to variant rs35365413 [ dbSNP | Ensembl ].
    VAR_047615
    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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti107 – 1071G → R in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs146688972 [ dbSNP | Ensembl ].
    VAR_047608
    Natural varianti148 – 1481K → E in ACHM3. 1 Publication
    VAR_047609
    Natural varianti156 – 1561S → F in ACHM3. 1 Publication
    VAR_047610
    Natural varianti199 – 1991E → K in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs114305748 [ dbSNP | Ensembl ].
    VAR_047611
    Natural varianti203 – 2031R → Q in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs16916632 [ dbSNP | Ensembl ].
    VAR_025524
    Natural varianti309 – 3091P → L in ACHM3. 1 Publication
    VAR_047612
    Natural varianti435 – 4351S → F in ACHM3. 3 Publications
    VAR_018111
    Natural varianti466 – 4661M → T in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs35010099 [ dbSNP | Ensembl ].
    VAR_047614
    Natural varianti494 – 4941D → N in ACHM3; unknown pathological significance. 1 Publication
    VAR_047616
    Natural varianti513 – 5131D → Y in ACHM3; unknown pathological significance. 1 Publication
    VAR_047617
    Natural varianti525 – 5251F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication
    VAR_047618
    Natural varianti558 – 5581G → C in ACHM3. 1 Publication
    VAR_047619
    Natural varianti595 – 5951L → F in ACHM3. 1 Publication
    VAR_047620
    Natural varianti672 – 6721T → P in ACHM3; unknown pathological significance. 1 Publication
    VAR_047621
    Natural varianti720 – 7267Missing in ACHM3.
    VAR_047622

    Keywords - Diseasei

    Disease mutation, Stargardt disease

    Organism-specific databases

    MIMi248200. phenotype.
    262300. phenotype.
    Orphaneti49382. Achromatopsia.
    1871. Progressive cone dystrophy.
    827. Stargardt disease.
    PharmGKBiPA26663.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 809809Cyclic nucleotide-gated cation channel beta-3PRO_0000219320Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi468 – 4681N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NQW8.
    PRIDEiQ9NQW8.

    PTM databases

    PhosphoSiteiQ9NQW8.

    Expressioni

    Tissue specificityi

    Expressed specifically in the retina.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQW8.
    BgeeiQ9NQW8.
    CleanExiHS_CNGB3.
    GenevestigatoriQ9NQW8.

    Interactioni

    Subunit structurei

    Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.2 Publications

    Protein-protein interaction databases

    STRINGi9606.ENSP00000316605.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQW8.
    SMRiQ9NQW8. Positions 465-636.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 216216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini238 – 25013ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini272 – 30231CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini324 – 35936ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini381 – 41737CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini439 – 50466ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini526 – 809284CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei217 – 23721Helical; Name=H1Sequence AnalysisAdd
    BLAST
    Transmembranei251 – 27121Helical; Name=H2Sequence AnalysisAdd
    BLAST
    Transmembranei303 – 32321Helical; Name=H3Sequence AnalysisAdd
    BLAST
    Transmembranei360 – 38021Helical; Name=H4Sequence AnalysisAdd
    BLAST
    Transmembranei418 – 43821Helical; Name=H5Sequence AnalysisAdd
    BLAST
    Transmembranei505 – 52521Helical; Name=H6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG289446.
    HOGENOMiHOG000231425.
    HOVERGENiHBG051038.
    InParanoidiQ9NQW8.
    KOiK04953.
    OMAiKMPLTEY.
    OrthoDBiEOG744T8M.
    PhylomeDBiQ9NQW8.
    TreeFamiTF318250.

    Family and domain databases

    Gene3Di2.60.120.10. 1 hit.
    InterProiIPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view]
    PfamiPF00027. cNMP_binding. 1 hit.
    [Graphical view]
    SMARTiSM00100. cNMP. 1 hit.
    [Graphical view]
    SUPFAMiSSF51206. SSF51206. 1 hit.
    PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
    PS00889. CNMP_BINDING_2. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQW8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE    50
    KSLKTKSTPV TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE 100
    QKEMDPGKEG PNSPQNKPPA APVINEYADA QLHNLVKRMR QRTALYKKKL 150
    VEGDLSSPEA SPQTAKPTAV PPVKESDDKP TEHYYRLLWF KVKKMPLTEY 200
    LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL VFPYQTADNI 250
    HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF 300
    QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI 350
    YRVIRTTGYL LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW 400
    AVRTLITIGG LPEPQTLFEI VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA 450
    NQNYFRACMD DTIAYMNNYS IPKLVQKRVR TWYEYTWDSQ RMLDESDLLK 500
    TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL KSVLYLPGDF 550
    VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG 600
    GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA 650
    KTAEATPPRK DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA 700
    QKKENSEGGE EEGKENEDKQ KENEDKQKEN EDKGKENEDK DKGREPEEKP 750
    LDRPECTASP IAVEEEPHSV RRTVLPRGTS RQSLIISMAP SAEGGEEVLT 800
    IEVKEKAKQ 809
    Length:809
    Mass (Da):92,167
    Last modified:November 2, 2010 - v2
    Checksum:iD16EE71A6149BDB5
    GO
    Isoform 2 (identifier: Q9NQW8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         590-594: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:804
    Mass (Da):91,633
    Checksum:i803A5D65F2CEBDE2
    GO

    Sequence cautioni

    The sequence AAF80179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251R → H.1 Publication
    VAR_047606
    Natural varianti27 – 271N → S.1 Publication
    Corresponds to variant rs35807406 [ dbSNP | Ensembl ].
    VAR_047607
    Natural varianti107 – 1071G → R in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs146688972 [ dbSNP | Ensembl ].
    VAR_047608
    Natural varianti148 – 1481K → E in ACHM3. 1 Publication
    VAR_047609
    Natural varianti156 – 1561S → F in ACHM3. 1 Publication
    VAR_047610
    Natural varianti199 – 1991E → K in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs114305748 [ dbSNP | Ensembl ].
    VAR_047611
    Natural varianti203 – 2031R → Q in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs16916632 [ dbSNP | Ensembl ].
    VAR_025524
    Natural varianti234 – 2341C → W.1 Publication
    Corresponds to variant rs6471482 [ dbSNP | Ensembl ].
    VAR_018109
    Natural varianti298 – 2981T → P.2 Publications
    Corresponds to variant rs4961206 [ dbSNP | Ensembl ].
    VAR_018110
    Natural varianti307 – 3071I → V.2 Publications
    Corresponds to variant rs13265557 [ dbSNP | Ensembl ].
    VAR_024418
    Natural varianti309 – 3091P → L in ACHM3. 1 Publication
    VAR_047612
    Natural varianti403 – 4031R → Q in macular degeneration. 1 Publication
    Corresponds to variant rs147876778 [ dbSNP | Ensembl ].
    VAR_047613
    Natural varianti435 – 4351S → F in ACHM3. 3 Publications
    VAR_018111
    Natural varianti466 – 4661M → T in ACHM3; unknown pathological significance. 1 Publication
    Corresponds to variant rs35010099 [ dbSNP | Ensembl ].
    VAR_047614
    Natural varianti469 – 4691Y → D in STGD1. 1 Publication
    Corresponds to variant rs35365413 [ dbSNP | Ensembl ].
    VAR_047615
    Natural varianti494 – 4941D → N in ACHM3; unknown pathological significance. 1 Publication
    VAR_047616
    Natural varianti513 – 5131D → Y in ACHM3; unknown pathological significance. 1 Publication
    VAR_047617
    Natural varianti525 – 5251F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication
    VAR_047618
    Natural varianti558 – 5581G → C in ACHM3. 1 Publication
    VAR_047619
    Natural varianti595 – 5951L → F in ACHM3. 1 Publication
    VAR_047620
    Natural varianti672 – 6721T → P in ACHM3; unknown pathological significance. 1 Publication
    VAR_047621
    Natural varianti720 – 7267Missing in ACHM3.
    VAR_047622
    Natural varianti750 – 7501P → S.
    Corresponds to variant rs3735971 [ dbSNP | Ensembl ].
    VAR_025525
    Natural varianti755 – 7551E → G.2 Publications
    Corresponds to variant rs3735972 [ dbSNP | Ensembl ].
    VAR_018112

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei590 – 5945Missing in isoform 2. 1 PublicationVSP_009742

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272900 mRNA. Translation: AAF86274.1.
    AC013751 Genomic DNA. No translation available.
    AC090572 Genomic DNA. No translation available.
    AF228520 mRNA. Translation: AAF80179.1. Different initiation.
    CCDSiCCDS6244.1. [Q9NQW8-1]
    RefSeqiNP_061971.3. NM_019098.4. [Q9NQW8-1]
    UniGeneiHs.154433.

    Genome annotation databases

    EnsembliENST00000320005; ENSP00000316605; ENSG00000170289. [Q9NQW8-1]
    GeneIDi54714.
    KEGGihsa:54714.
    UCSCiuc003ydx.3. human. [Q9NQW8-1]
    uc010maj.3. human. [Q9NQW8-2]

    Polymorphism databases

    DMDMi311033366.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272900 mRNA. Translation: AAF86274.1 .
    AC013751 Genomic DNA. No translation available.
    AC090572 Genomic DNA. No translation available.
    AF228520 mRNA. Translation: AAF80179.1 . Different initiation.
    CCDSi CCDS6244.1. [Q9NQW8-1 ]
    RefSeqi NP_061971.3. NM_019098.4. [Q9NQW8-1 ]
    UniGenei Hs.154433.

    3D structure databases

    ProteinModelPortali Q9NQW8.
    SMRi Q9NQW8. Positions 465-636.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000316605.

    PTM databases

    PhosphoSitei Q9NQW8.

    Polymorphism databases

    DMDMi 311033366.

    Proteomic databases

    PaxDbi Q9NQW8.
    PRIDEi Q9NQW8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320005 ; ENSP00000316605 ; ENSG00000170289 . [Q9NQW8-1 ]
    GeneIDi 54714.
    KEGGi hsa:54714.
    UCSCi uc003ydx.3. human. [Q9NQW8-1 ]
    uc010maj.3. human. [Q9NQW8-2 ]

    Organism-specific databases

    CTDi 54714.
    GeneCardsi GC08M087566.
    GeneReviewsi CNGB3.
    H-InvDB HIX0034272.
    HGNCi HGNC:2153. CNGB3.
    MIMi 248200. phenotype.
    262300. phenotype.
    605080. gene.
    neXtProti NX_Q9NQW8.
    Orphaneti 49382. Achromatopsia.
    1871. Progressive cone dystrophy.
    827. Stargardt disease.
    PharmGKBi PA26663.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289446.
    HOGENOMi HOG000231425.
    HOVERGENi HBG051038.
    InParanoidi Q9NQW8.
    KOi K04953.
    OMAi KMPLTEY.
    OrthoDBi EOG744T8M.
    PhylomeDBi Q9NQW8.
    TreeFami TF318250.

    Miscellaneous databases

    GeneWikii Cyclic_nucleotide_gated_channel_beta_3.
    GenomeRNAii 54714.
    NextBioi 57273.
    PROi Q9NQW8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQW8.
    Bgeei Q9NQW8.
    CleanExi HS_CNGB3.
    Genevestigatori Q9NQW8.

    Family and domain databases

    Gene3Di 2.60.120.10. 1 hit.
    InterProi IPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view ]
    Pfami PF00027. cNMP_binding. 1 hit.
    [Graphical view ]
    SMARTi SM00100. cNMP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51206. SSF51206. 1 hit.
    PROSITEi PS00888. CNMP_BINDING_1. 1 hit.
    PS00889. CNMP_BINDING_2. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Kohl S., Baumann B., Broghammer M., Jaegle H., Sieving P., Kellner U., Spegal R., Anastasi M., Zrenner E., Sharpe L.T., Wissinger B.
      Hum. Mol. Genet. 9:2107-2116(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ACHM3 PHE-435, VARIANTS TRP-234; PRO-298 AND GLY-755.
    2. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Genetic basis of total colourblindness among the Pingelapese islanders."
      Sundin O.H., Yang J.-M., Li Y., Zhu D., Hurd J.N., Mitchell T.N., Silva E.D., Maumenee I.H.
      Nat. Genet. 25:289-293(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-809 (ISOFORM 2), FUNCTION, SUBUNIT, VARIANT ACHM3 PHE-435.
      Tissue: Retina.
    4. "Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels."
      Shuart N.G., Haitin Y., Camp S.S., Black K.D., Zagotta W.N.
      Nat. Commun. 2:457-457(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    5. "A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate."
      Rojas C.V., Maria L.S., Santos J.L., Cortes F., Alliende M.A.
      Eur. J. Hum. Genet. 10:638-642(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ACHM3 GLU-148.
    6. Cited for: VARIANTS ACHM3 VAL-307 AND ASN-525.
    7. Cited for: VARIANTS ACHM3 PHE-156; LEU-309; PHE-435 AND 720-GLN--LYS-726 DEL.
    8. "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
      Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
      Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MACULAR DEGENERATION GLN-403, VARIANT STGD1 ASP-469, VARIANTS ACHM3 ARG-107; LYS-199; GLN-203; THR-466; ASN-494; TYR-513; CYS-558; PHE-595 AND PRO-672, VARIANTS HIS-25; SER-27; PRO-298; VAL-307 AND GLY-755.

    Entry informationi

    Entry nameiCNGB3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQW8
    Secondary accession number(s): C9JA51, Q9NRE9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3