Beaded Filament Structural Protein 2

Alternative Names

  • BFSP2
  • Beaded Filament Structural Protein, 49-KD
  • Cytoskeletal Protein, 49-KD
  • CP49
  • Cytoskeletal Protein, 47-KD
  • CP47
  • Phakinin
  • Phakosin

Associated Diseases

Cataract 12, Multiple Types
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OMIM Number

603212

NCBI Gene ID

8419

Uniprot ID

Q13515

Length

75,228 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Phakinin

Molecular Mass

45880 Da

Amino Acid Count

415

Genomic Location

chr3:133,399,995-133,475,222

Gene Map Locus
3q22.1

Description

The BFSP2 gene codes for the Pahkinin protein, a lens-specific intermediate filament protein. This protein plays a major role in the cytoskeletal organization of the differentiated fibre cells. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003571.3:c.598_599dup Saudi ArabiaChr3: 133448515PathogenicCataract 12, Multiple TypesNG_012425.1:g.53569_53570dup ; NM_003571.3:c.598_599dup ; NP_003562.1:p.Ala201ArgfsX19
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