BFSP2

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Beaded filament structural protein 2, phakinin
Identifiers
Symbols BFSP2 ; CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN
External IDs OMIM603212 MGI1333828 HomoloGene20791 GeneCards: BFSP2 Gene
RNA expression pattern
PBB GE BFSP2 207399 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8419 107993
Ensembl ENSG00000170819 ENSMUSG00000032556
UniProt Q13515 Q6NVD9
RefSeq (mRNA) NM_003571 NM_001002896
RefSeq (protein) NP_003562 NP_001002896
Location (UCSC) Chr 3:
133.4 – 133.48 Mb
Chr 9:
103.42 – 103.48 Mb
PubMed search [1] [2]

BFSP2 is a gene that encodes the protein phakinin in humans.[1]

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), 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.[1]

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