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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]
BFSP2 (Beaded Filament Structural Protein 2) is a Protein Coding gene. Diseases associated with BFSP2 include Cataract 12, Multiple Types and Early-Onset Lamellar Cataract. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of eye lens. An important paralog of this gene is KRT10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 9628810 |
GO:0005212 | structural constituent of eye lens | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005882 | intermediate filament | TAS,ISS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005938 | cell cortex | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0007601 | visual perception | IEA | -- |
GO:0045104 | intermediate filament cytoskeleton organization | IEA | -- |
GO:0045109 | intermediate filament organization | ISS | -- |
GO:0048469 | cell maturation | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BFSP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BFSP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BFSP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bfsp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bfsp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BFSP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BFSP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BFSP2 30 |
|
||
CP49 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | BFSP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bfsp2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bfsp2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
646545 | Uncertain Significance: Cataract 12, multiple types | 133,400,245(+) | CG/C | FRAMESHIFT_VARIANT | |
660770 | Conflicting Interpretations: Cataract 12, multiple types | 133,472,436(+) | C/T | MISSENSE_VARIANT | |
726950 | Likely Benign: not provided | 133,447,309(+) | C/T | INTRON_VARIANT | |
740805 | Benign/Likely Benign: Cataract 12, multiple types | 133,450,296(+) | T/C | INTRON_VARIANT | |
744871 | Likely Benign: not provided | 133,450,461(+) | T/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4903n100 | CNV | loss | 25217958 |
dgv8605n54 | CNV | loss | 21841781 |
dgv8606n54 | CNV | loss | 21841781 |
dgv8607n54 | CNV | gain | 21841781 |
dgv8608n54 | CNV | gain+loss | 21841781 |
esv1102121 | CNV | insertion | 17803354 |
esv25562 | CNV | gain+loss | 19812545 |
esv2673403 | CNV | deletion | 23128226 |
esv2725938 | CNV | deletion | 23290073 |
esv2725939 | CNV | deletion | 23290073 |
esv2725941 | CNV | deletion | 23290073 |
esv3562572 | CNV | deletion | 23714750 |
nsv1109546 | CNV | deletion | 24896259 |
nsv237800 | CNV | deletion | 16902084 |
nsv460857 | CNV | loss | 19166990 |
nsv472727 | CNV | novel sequence insertion | 20440878 |
nsv509853 | OTHER | sequence alteration | 20534489 |
nsv522281 | CNV | gain | 19592680 |
nsv591801 | CNV | loss | 21841781 |
nsv591811 | CNV | loss | 21841781 |
nsv591819 | CNV | gain | 21841781 |
nsv591820 | CNV | loss | 21841781 |
nsv819235 | CNV | gain | 19587683 |
nsv819448 | CNV | loss | 19587683 |
nsv822261 | CNV | gain | 20364138 |
nsv955348 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataract 12, multiple types |
|
|
early-onset lamellar cataract |
|
|
early-onset sutural cataract |
|
|
cataract 30, multiple types |
|
|
cataract |
|