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

Gene ID: 494090, updated on 4-Jan-2025

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, Jan 2025]
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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