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    best-12 Bestrophin homolog 12 [ Caenorhabditis elegans ]

    Gene ID: 184489, updated on 9-Dec-2024

    Summary

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    Official Symbol
    best-12
    Official Full Name
    Bestrophin homolog 12
    Primary source
    WormBase:WBGene00008821
    Locus tag
    CELE_F14H3.2
    See related
    AllianceGenome:WB:WBGene00008821
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of chloride channel complex. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to several human genes including BEST1 (bestrophin 1); BEST2 (bestrophin 2); and BEST3 (bestrophin 3). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See best-12 in Genome Data Viewer
    Location:
    chromosome: V
    Exon count:
    10
    Sequence:
    Chromosome: V; NC_003283.11 (16049477..16051706)

    Chromosome V - NC_003283.11Genomic Context describing neighboring genes Neighboring gene Glycine-rich protein Neighboring gene Seven TM Receptor Neighboring gene Uncharacterized protein Neighboring gene Uncharacterized protein

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003283.11

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. OrthoList: a compendium of C. elegans genes with human orthologs. Shaye DD, et al. PLoS One, 2011. PMID 21647448, Free PMC Article
    2. OrthoList 2: A New Comparative Genomic Analysis of Human and Caenorhabditis elegans Genes. Kim W, et al. Genetics, 2018 Oct. PMID 30120140, Free PMC Article
    3. Genome sequence of the nematode C. elegans: a platform for investigating biology. C. elegans Sequencing Consortium. Science, 1998 Dec 11. PMID 9851916

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Bestrophin homolog 12
    NP_507036.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_003283.11 Reference assembly

      Range
      16049477..16051706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_074635.3 → NP_507036.1  Bestrophin homolog 12 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_507036.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O45363
      Conserved Domains (1) summary
      pfam01062
      Location:19 → 327
      Bestrophin; Bestrophin, RFP-TM, chloride channel
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O45363.1

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