HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BFSP2
beaded filament structural protein 2
Chromosome 3 · 3q22.1
NCBI Gene: 8419Ensembl: ENSG00000170819.5HGNC: HGNC:1041UniProt: Q13515
28PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoskeletonintermediate filamentintermediate filament organizationcataract 12 multiple typescataractPartial congenital cataractpulverulent cataract
✦AI Summary

BFSP2 encodes CP49, a lens-specific intermediate filament protein that is essential for proper eye lens structure and optical properties 1. BFSP2 functions as part of the beaded filament cytoskeleton, the major structural element in lens fiber cells, working in complex with BFSP1 (filensin) to form unique intermediate filaments 2. Unlike canonical intermediate filament proteins, BFSP2 is completely tailless and cannot form filaments independently in vitro, requiring co-assembly with BFSP1 to generate functional beaded filaments 3. These beaded filaments are fundamental for organizing and maintaining lens fiber cell architecture and determining the optical properties essential for lens transparency 3. BFSP2 mutations cause autosomal dominant and recessive forms of congenital cataract, with the ΔE233 deletion being the first reported cytoskeletal protein mutation causing inherited cataract 4. The protein shows evolutionary variation, with fish orthologs possessing C-terminal tail domains that regulate filament assembly and diameter, while mammalian BFSP2 is tailless 5. Clinical studies have identified multiple pathogenic BFSP2 variants in pediatric cataract patients, emphasizing its critical role in lens development and maintenance 6.

Sources cited
1
BFSP2 is a lens-specific intermediate filament protein essential for lens optical properties and transparency
PMID: 19587458
2
BFSP2 works with BFSP1 to form beaded filaments and mutations cause cataract
PMID: 17490642
3
BFSP2 is tailless, cannot form filaments alone, and is essential for lens fiber cell architecture
PMID: 15777782
4
ΔE233 deletion in BFSP2 causes autosomal dominant cataract, first cytoskeletal protein mutation causing inherited cataract
PMID: 10739768
5
Evolutionary variation exists with fish having tailed versions while mammals have tailless BFSP2
PMID: 22182672
6
Multiple pathogenic BFSP2 variants identified in pediatric cataract patients
PMID: 36161833
Disease Associationsⓘ21
cataract 12 multiple typesOpen Targets
0.73Strong
cataractOpen Targets
0.62Moderate
Partial congenital cataractOpen Targets
0.53Moderate
pulverulent cataractOpen Targets
0.39Weak
Cataract with Y-shaped suture opacitiesOpen Targets
0.39Weak
early-onset sutural cataractOpen Targets
0.37Weak
lens diseaseOpen Targets
0.35Weak
Abnormal thorax morphologyOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.34Weak
NystagmusOpen Targets
0.34Weak
SeizureOpen Targets
0.34Weak
StrabismusOpen Targets
0.34Weak
brain cancerOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.18Weak
early-onset non-syndromic cataractOpen Targets
0.14Weak
Developmental cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Weak
Cataract-microcornea syndromeOpen Targets
0.10Suggestive
ovarian neoplasmOpen Targets
0.10Suggestive
Cataract 12, multiple typesUniProt
Pathogenic Variants3
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)Pathogenic
Cataract 12 multiple types|not provided|BFSP2-related disorder
★★☆☆2022→ Residue 233
NM_003571.4(BFSP2):c.166del (p.Val56fs)Pathogenic
Cataract 12 multiple types
★☆☆☆2022→ Residue 56
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)Pathogenic
7 conditions
★☆☆☆2021→ Residue 150
View on ClinVar ↗
Related Genes
PRPHShared pathway100%TCHHShared pathway100%CRYGCProtein interaction94%CRYGSProtein interaction94%PITX3Protein interaction94%CRYAAProtein interaction77%
Tissue Expression6 tissues
Brain
100%
Lung
50%
Liver
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
BFSP2PRPHTCHHCRYGCCRYGSPITX3CRYAA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13515
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.63–1.07]
RankingsWhere BFSP2 stands among ~20K protein-coding genes
  • #12,314of 20,598
    Most Researched28
  • #4,130of 5,498
    Most Pathogenic Variants3
  • #10,765of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedBFSP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functions of the intermediate filament cytoskeleton in the eye lens.
PMID: 19587458
J Clin Invest · 2009
1.00
2
Insights into the beaded filament of the eye lens.
PMID: 17490642
Exp Cell Res · 2007
0.90
3
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
PMID: 10739768
Am J Hum Genet · 2000
0.80
4
Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
PMID: 21836522
Genet Med · 2011
0.70
5
Seeing is believing! The optical properties of the eye lens are dependent upon a functional intermediate filament cytoskeleton.
PMID: 15777782
Exp Cell Res · 2005
0.60