BFSP2

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

AliasesBFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2

External IDsOMIM: 603212; MGI: 1333828; HomoloGene: 20791; GeneCards: BFSP2; OMA:BFSP2 - orthologs

Chr.Chromosome 3 (human)^[1]

End133,475,222 bp^[1]

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BFSP2
Identifiers
Aliases	BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
External IDs	OMIM: 603212; MGI: 1333828; HomoloGene: 20791; GeneCards: BFSP2; OMA:BFSP2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q22.1 Start 133,400,056 bp[1] End 133,475,222 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F1 Start 103,302,123 bp[2] End 103,357,619 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lens testicle gonad lymph node spleen granulocyte appendix mucosa of transverse colon bone marrow cell rectum Top expressed in lens epithelium of lens iris ciliary body retinal pigment epithelium Jacobson's organ sciatic nerve embryo embryo facial motor nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of cytoskeleton protein binding structural molecule activity structural constituent of eye lens Cellular component cell cortex intermediate filament cytoskeleton membrane cytoplasm plasma membrane Biological process cell maturation cytoskeleton organization lens fiber cell development response to stimulus visual perception intermediate filament cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 9: 103.3 – 103.36 Mb PubMed search [3] [4]
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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]