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    bfsp2 beaded filament structural protein 2, phakinin [ Danio rerio (zebrafish) ]

    Gene ID: 494090, updated on 9-Dec-2024

    Summary

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    Official Symbol
    bfsp2provided by ZNC
    Official Full Name
    beaded filament structural protein 2, phakininprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-041212-58
    See related
    Ensembl:ENSDARG00000011998 AllianceGenome:ZFIN:ZDB-GENE-041212-58
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:103750
    Summary
    Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament organization. Predicted to be active in intermediate filament. Is expressed in lens; male organism; and solid lens vesicle. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See bfsp2 in Genome Data Viewer
    Location:
    chromosome: 2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 2 NC_007113.7 (32761130..32768885, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 2 NC_007113.6 (32777903..32786077, complement)

    Chromosome 2 - NC_007113.7Genomic Context describing neighboring genes Neighboring gene chemokine (C-C motif) receptor 9a Neighboring gene nuclear receptor binding protein 2a Neighboring gene uncharacterized LOC101887149 Neighboring gene kelch-like family member 18 Neighboring gene zgc:136930 Neighboring gene uncharacterized LOC110438072

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Evolution of the vertebrate beaded filament protein, Bfsp2; comparing the in vitro assembly properties of a "tailed" zebrafish Bfsp2 to its "tailless" human orthologue. Qu B, et al. Exp Eye Res, 2012 Jan. PMID 22182672, Free PMC Article
    2. The role of mip in the development of lens in zebrafish. He M, et al. Gene Expr Patterns, 2023 Sep. PMID 37369320
    3. Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish. Atienzar-Aroca R, et al. Int J Mol Sci, 2022 Sep 1. PMID 36077382, Free PMC Article
    4. HSP90β prevents aging-related cataract formation through regulation of the charged multivesicular body protein (CHMP4B) and p53. Fu JL, et al. Proc Natl Acad Sci U S A, 2023 Aug. PMID 37487085, Free PMC Article
    5. Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Ho M, et al. Hum Genomics, 2022 Jan 6. PMID 34991727, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Therefore we conclude zebrafish Bfsp2alpha is a functional orthologue conforming more closely to the conventional domain structure of intermediate filament proteins.
      Title: Evolution of the vertebrate beaded filament protein, Bfsp2; comparing the in vitro assembly properties of a "tailed" zebrafish Bfsp2 to its "tailless" human orthologue.
    Submit: New GeneRIF Correction

    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phakinin
    Names
    DKEYP-73D8.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008633.2 → NP_001008633.1  phakinin

      See identical proteins and their annotated locations for NP_001008633.1

      Status: PROVISIONAL

      Source sequence(s)
      BC086849
      UniProtKB/TrEMBL
      Q5PR28
      Related
      ENSDARP00000025416.7, ENSDART00000004712.8
      Conserved Domains (1) summary
      pfam00038
      Location:91 → 394
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007113.7 Reference GRCz11 Primary Assembly

      Range
      32761130..32768885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005163493.5 → XP_005163550.1  phakinin isoform X2

      UniProtKB/TrEMBL
      A0A8M2BAL8
      Conserved Domains (1) summary
      pfam00038
      Location:91 → 393
      Filament; Intermediate filament protein

    2. XM_009298615.4 → XP_009296890.1  phakinin isoform X1

      UniProtKB/TrEMBL
      A0A286YA92, A0A8M3B0B9
      Related
      ENSDARP00000144091.1, ENSDART00000178951.2
      Conserved Domains (1) summary
      pfam00038
      Location:91 → 394
      Filament; Intermediate filament protein
    Nucleotide Protein Strain
    Heading Accession and Version

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