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

Gene ID: 107993, updated on 17-Jan-2023

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, Apr 2022]
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; 9 F1
Exon count:
9
Annotation release Status Assembly Chr Location
109 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 topoisomerase (DNA) II binding protein 1 Neighboring gene carnitine deficiency-associated gene expressed in ventricle 3 Neighboring gene RIKEN cDNA 5830418P13 gene Neighboring gene predicted gene 16252 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. Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens. Simirskii VN, et al. Invest Ophthalmol Vis Sci, 2006 Nov. PMID 17065509
  2. Eye lens proteomics: from global approach to detailed information about phakinin and gamma E and F crystallin genes. Hoehenwarter W, et al. Proteomics, 2005 Jan. PMID 15744838
  3. 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
  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. 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

See all (51) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
  
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
 PubMed 
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 
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane 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
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
    Q6NVD9, Q8VDD6
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    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

Gene LinkOut

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