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MGI:Bfsp2
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Bfsp2 ( synonyms: CP49 ) | |
| Protein Name(s) | beaded filament structural protein 2, phakinin, | |
| External Links | ||
| MGI | MGI:1333828 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005198 |
structural molecule activity |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
F |
From MGI |
|||
| GO:0005212 |
structural constituent of eye lens |
MGI:MGI:3691890 |
IDA: Inferred from Direct Assay |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3838237 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:3760711 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005856 |
cytoskeleton |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0206 |
C |
From MGI |
||
| GO:0005882 |
intermediate filament |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0403 |
C |
From MGI |
||
| GO:0005886 |
plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0007010 |
cytoskeleton organization |
MGI:MGI:2652294 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2653265 |
P |
From MGI |
||
| GO:0007601 |
visual perception |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0844 |
P |
From MGI |
||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0045104 |
intermediate filament cytoskeleton organization |
MGI:MGI:2673300 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2671074 |
P |
From MGI |
||
| GO:0048469 |
cell maturation |
MGI:MGI:3777535 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:3624777 |
P |
From MGI |
||
| GO:0048469 |
cell maturation |
MGI:MGI:3830183 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0050896 |
response to stimulus |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0716 |
P |
From MGI |
||
| GO:0070307 |
lens fiber cell development |
MGI:MGI:2673300 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2671074 |
P |
From MGI |
||
| GO:0070307 |
lens fiber cell development |
MGI:MGI:3717045 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2671074 |
P |
From MGI |
| |
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Sandilands A et al. (2002) Altered aggregation properties of mutant gamma-crystallins cause inherited cataract. EMBO J 21: 6005-14 PubMed GONUTS page
- ↑ Yoon KH & FitzGerald PG (2009) Periplakin interactions with lens intermediate and beaded filaments. Invest Ophthalmol Vis Sci 50: 1283-9 PubMed GONUTS page
- ↑ DePianto DJ et al. (2003) Analysis of non-crystallin lens fiber cell gene expression in c-Maf -/- mice. Mol Vis 9: 288-94 PubMed GONUTS page
- ↑ 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 GONUTS page
- ↑ 5.0 5.1 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 GONUTS page
- ↑ 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 GONUTS page
- ↑ 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 GONUTS page
- ↑ 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 GONUTS page
