Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Bfsp2. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of October 18, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Bfsp2
  • performs the following molecular functions:
    • structural constituent of eye lens ^[5]
  • is located in the following cellular components:
    • cytoplasm ^[2]
• The gene product of Bfsp2 has been shown to bind to the gene products of Ppl. ^[8]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Bfsp2
  • participates in the following biological processes:
    • cell maturation ^{[1, 7]}
    • cytoskeleton organization ^[3]
    • intermediate filament cytoskeleton organization ^[4]
    • lens fiber cell development ^{[4, 6]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Bfsp2:
  • is located in the following cellular components:
    • cytoplasm
    • plasma membrane

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Summary text based on GO annotations supported by structural data

• Bfsp2 encodes a protein or proteins that contain the following InterPro domains: Filament, Intermediate filament protein, Keratin, type I, indicating that the gene product:
  • performs the following molecular functions:
    • structural molecule activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Bfsp2 indicates that it:
  • participates in the following biological processes:
    • response to stimulus
    • visual perception
  • is located in the following cellular components:
    • cytoskeleton
    • intermediate filament
    • membrane

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References

1. Alizadeh A et al. (2004) Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Invest Ophthalmol Vis Sci, 45:884-91. (PubMed:14985306)
2. DePianto DJ et al. (2003) Analysis of non-crystallin lens fiber cell gene expression in c-Maf -/- mice. Mol Vis, 9:288-94. (PubMed:12835653)
3. Sandilands A et al. (2003) Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract. Exp Eye Res, 76:385-91. (PubMed:12573667)
4. Sandilands A et al. (2004) Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Exp Eye Res, 78:875-89. (PubMed:15037121)
5. Sandilands A et al. (2002) Altered aggregation properties of mutant gamma-crystallins cause inherited cataract. EMBO J, 21:6005-14. (PubMed:12426373)
6. Simirskii VN et al. (2006) Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens. Invest Ophthalmol Vis Sci, 47:4931-4. (PubMed:17065509)
7. Yoon KH et al. (2008) Resisting the effects of aging: a function for the fiber cell beaded filament. Invest Ophthalmol Vis Sci, 49:1030-6. (PubMed:18326727)
8. Yoon KH et al. (2009) Periplakin interactions with lens intermediate and beaded filaments. Invest Ophthalmol Vis Sci, 50:1283-9. (PubMed:19029034)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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