BFSP2
Identifiers
AliasesBFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
External IDsOMIM: 603212 MGI: 1333828 HomoloGene: 20791 GeneCards: BFSP2
Orthologs
SpeciesHumanMouse
Entrez

8419

107993

Ensembl

ENSG00000170819

ENSMUSG00000032556

UniProt

Q13515

Q6NVD9

RefSeq (mRNA)

NM_003571

NM_001002896
NM_001364514

RefSeq (protein)

NP_003562

NP_001002896
NP_001351443

Location (UCSC)Chr 3: 133.4 – 133.48 MbChr 9: 103.3 – 103.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BFSP2 is a gene that encodes the protein phakinin ("beaded filament structural protein 2") in humans.[5]

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament 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.[5]

The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.[6][7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000170819 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032556 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin".
  6. Chaves JM, Gupta R, Srivastava K, Srivastava O (December 2017). "Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin". Biochemical and Biophysical Research Communications. 494 (1–2): 402–408. doi:10.1016/j.bbrc.2017.09.088. PMID 28935373.
  7. Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WH, Lim YP, Lane EB. "Human Intermediate Filament Database". Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, et al. (March 2008). "The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases". Human Mutation. 29 (3): 351–360. doi:10.1002/humu.20652. PMID 18033728. S2CID 20760837.

Further reading


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