BFSP2 Chromosome 3
Beaded filament structural protein 2
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What This Gene Does
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]
Gene Info
Gene Group
Beaded filament structural proteins
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000170819
Associated Conditions (3)
Cataract 12 multiple types
BFSP2-related disorder
7 conditions
Key Variants
RS139944598
Conflicting classifications of pathogenicity
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
RS142499840
Conflicting classifications of pathogenicity
Health Risk
RS145444931
Conflicting classifications of pathogenicity
Cataract 12 multiple types, BFSP2-related disorder, Cataract 12 multiple types
Health Risk
RS200208769
Conflicting classifications of pathogenicity
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
RS375380005
Conflicting classifications of pathogenicity
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
RS754811534
Conflicting classifications of pathogenicity
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
RS756829125
Conflicting classifications of pathogenicity
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
RS121908938
Pathogenic
Cataract 12 multiple types, BFSP2-related disorder, Cataract 12 multiple types
Health Risk
RS1221754175
Pathogenic
7 conditions, 7 conditions
Health Risk
RS1576552712
Pathogenic
Cataract 12 multiple types, Cataract 12 multiple types
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139944598 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, Cataract 12 multiple types |
| RS142499840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145444931 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, BFSP2-related disorder, Cataract 12 multiple types |
| RS200208769 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, Cataract 12 multiple types |
| RS375380005 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, Cataract 12 multiple types |
| RS754811534 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, Cataract 12 multiple types |
| RS756829125 | Health Risk | Conflicting classifications of pathogenicity | Cataract 12 multiple types, Cataract 12 multiple types |
| RS121908938 | Health Risk | Pathogenic | Cataract 12 multiple types, BFSP2-related disorder, Cataract 12 multiple types |
| RS1221754175 | Health Risk | Pathogenic | 7 conditions, 7 conditions |
| RS1576552712 | Health Risk | Pathogenic | Cataract 12 multiple types, Cataract 12 multiple types |