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    Bfsp2 beaded filament structural protein 2, phakinin [ Mus musculus (house mouse) ]

    Gene ID: 107993, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Bfsp2provided by MGI
    Official Full Name
    beaded filament structural protein 2, phakininprovided by MGI
    Primary source
    MGI:MGI:1333828
    See related
    Ensembl:ENSMUSG00000032556 AllianceGenome:MGI:1333828
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CP47; CP49; LIFL-L
    Summary
    A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Located in cytoplasm and intermediate filament. Is expressed in lens; olfactory epithelium; and vomeronasal organ. 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, Nov 2024]
    Expression
    Biased expression in thymus adult (RPKM 9.0), spleen adult (RPKM 2.6) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bfsp2 in Genome Data Viewer
    Location:
    9 F1; 9 55.37 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (103302123..103357608, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (103424924..103480405, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_25090 Neighboring gene topoisomerase (DNA) II binding protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E573 Neighboring gene STARR-seq mESC enhancer starr_25091 Neighboring gene carnitine deficiency-associated gene expressed in ventricle 3 Neighboring gene RIKEN cDNA 5830418P13 gene Neighboring gene STARR-positive B cell enhancer mm9_chr9:103327280-103327581 Neighboring gene STARR-seq mESC enhancer starr_25093 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:103334789-103334972 Neighboring gene STARR-positive B cell enhancer ABC_E5098 Neighboring gene STARR-seq mESC enhancer starr_25094 Neighboring gene STARR-seq mESC enhancer starr_25095 Neighboring gene predicted gene 16252 Neighboring gene STARR-seq mESC enhancer starr_25098 Neighboring gene transmembrane protein 108 Neighboring gene RIKEN cDNA 4932413F04 gene Neighboring gene predicted gene, 32743

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Unexpected variation in unique features of the lens-specific type I cytokeratin CP49. Binkley PA, et al. Invest Ophthalmol Vis Sci, 2002 Jan. PMID 11773035
    2. Targeted genomic deletion of the lens-specific intermediate filament protein CP49. Alizadeh A, et al. Invest Ophthalmol Vis Sci, 2002 Dec. PMID 12454043
    3. Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract. Sandilands A, et al. Exp Eye Res, 2003 Mar. PMID 12573667
    4. Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Sandilands A, et al. Exp Eye Res, 2004 Jan. PMID 14667833
    5. Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Alizadeh A, et al. Invest Ophthalmol Vis Sci, 2004 Mar. PMID 14985306

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CP49 and filensin intermediate filaments are essential for formation of cold cataract.
      Title: CP49 and filensin intermediate filaments are essential for formation of cold cataract.
    2. CP49 and filensin have been considered robust markers for mouse lens fiber cell differentiation. The data reported here, however, document both proteins in the mouse lens epithelium, but only after 5 weeks of age, when lens epithelial growth and mitotic activity have slowed.
      Title: Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium.
    3. CP49 is involved in a functional synergy critical for regulating lens fiber cell geometry, transparency, and mechanical stiffness.
      Title: Tmod1 and CP49 synergize to control the fiber cell geometry, transparency, and mechanical stiffness of the mouse lens.
    4. disruption of the Hsf4 gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin; decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin
      Title: Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of eye lens IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lens fiber cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phakinin
    Names
    49 kDa cytoskeletal protein
    lens fiber cell beaded filament protein CP 47
    lens fiber cell beaded filament protein CP 49
    lens intermediate filament-like light

    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_001002896.3 → NP_001002896.1  phakinin isoform 1

      See identical proteins and their annotated locations for NP_001002896.1

      Status: VALIDATED

      Source sequence(s)
      AC165256
      Consensus CDS
      CCDS52903.1
      UniProtKB/Swiss-Prot
      Q63832, Q6NVD9, Q6P5N4, Q8VDD6
      UniProtKB/TrEMBL
      Q3UYB8
      Related
      ENSMUSP00000116249.3, ENSMUST00000124310.5
      Conserved Domains (1) summary
      pfam00038
      Location:116 → 416
      Filament; Intermediate filament protein

    2. NM_001364514.1 → NP_001351443.1  phakinin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC165256, AI851293, BC062815
      Related
      ENSMUST00000136636.2
      Conserved Domains (1) summary
      pfam00038
      Location:5 → 152
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      103302123..103357608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154552.1 → XP_036010445.1  phakinin isoform X3

      Conserved Domains (1) summary
      pfam00038
      Location:5 → 152
      Filament; Intermediate filament protein

    2. XM_030243997.2 → XP_030099857.1  phakinin isoform X1

      UniProtKB/TrEMBL
      Q3UYB8
      Conserved Domains (1) summary
      pfam00038
      Location:158 → 458
      Filament; Intermediate filament protein

    3. XM_030243998.2 → XP_030099858.1  phakinin isoform X2

      Conserved Domains (1) summary
      pfam00038
      Location:5 → 152
      Filament; Intermediate filament protein

    4. XM_030243999.2 → XP_030099859.1  phakinin isoform X2

      Conserved Domains (1) summary
      pfam00038
      Location:5 → 152
      Filament; Intermediate filament protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NVD9.1 GenPept UniProtKB/Swiss-Prot:Q6NVD9

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