BFSP2 Gene (Beaded Filament Structural Protein 2)
Key component of the lens cytoskeleton; mutations linked to cataract formation.
Gene Information Card
| Symbol | BFSP2 |
|---|---|
| Full Name | Beaded Filament Structural Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 8419 ncbi.nlm.nih.gov/gene/8419 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q13515 |
| OMIM ID | 603212 |
| HGNC ID | 1042 |
| Aliases | CP49, CP47, LIFL-L, phakinin |
Description
BFSP2 encodes phakinin, a cytoskeletal protein that, together with BFSP1 (filensin), forms the beaded filaments of the lens fiber cells. These filaments are essential for maintaining lens transparency and mechanical stability. Mutations in BFSP2 are associated with autosomal dominant congenital cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract 12, multiple types (CTRCT12) | Missense or frameshift mutations disrupt beaded filament assembly, leading to lens opacity. | OMIM #603212; ClinVar |
| Autosomal dominant congenital cataract | Dominant-negative or haploinsufficiency mechanisms impair lens cytoskeleton integrity. | ClinVar; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | Tissue-specific; major component of lens fiber cells |
| Retina | Low | Minor expression detected |
| Testis | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Lens epithelial cells (HLE-B3) | High | Endogenous expression |
| ARPE-19 (retinal pigment epithelium) | Low | Non-lens cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.735C>G (p.Tyr245*) | Nonsense | Rare | Loss of function; associated with cataract |
| c.716G>A (p.Arg239His) | Missense | Rare | Dominant-negative; disrupts filament assembly |
| c.1048_1049del (p.Gln350Valfs*3) | Frameshift | Rare | Loss of function; cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Tyr245*, p.Gln350Valfs*3) lead to truncated protein and loss of beaded filament integrity.
Gain of Function (GOF)
Not reported for BFSP2.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg239His) produce abnormal phakinin that interferes with wild-type filament assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Lens fiber cell differentiation (KEGG: hsa04330)
Protein Summary
Phakinin (CP49) is a 49 kDa intermediate filament-like protein that co-assembles with filensin (BFSP1) to form beaded filaments in lens fiber cells. It contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Phakinin is essential for lens transparency; its absence or mutation leads to cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BFSP2 Knockout HEK293 Cell Line | EDJ-KQ6233 | Human | 8419 | Details Get a Quote |
| BFSP2 Knockout HeLa Cell Line | EDJ-KQ54903 | Human | 8419 | Details Get a Quote |
| BFSP2 Knockout A-549 Cell Line | EDJ-KQ63390 | Human | 8419 | Details Get a Quote |
| BFSP2 Knockout HCT 116 Cell Line | EDJ-KQ71858 | Human | 8419 | Details Get a Quote |
