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Gene Ontology Classifications
Symbol
Name
ID
Bfsp2
beaded filament structural protein 2, phakinin
MGI:1333828

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 Thursday, January 16, 2014.) 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.
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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
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)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory