BFSP2

Also known as CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2

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

Gene data

BFSP2

Name: beaded filament structural protein 2
Type: protein-coding
Position: 133,400,056–133,475,222 (+)
Aliases: CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Ensembl: ENSG00000170819
RefSeq RNA: NM_003571.4, XM_017007315.2, XM_054348085.1
RefSeq protein: NP_003562.1, XP_016862804.1, XP_054204060.1

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, 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. [provided by RefSeq, Jun 2009].

Gene Ontology

Biological process

intermediate filament organization intermediate filament organization intermediate filament organization

Molecular function

structural molecule activity structural constituent of cytoskeleton structural constituent of eye lens protein binding

Cellular component

cytoplasm cytoskeleton cytoskeleton intermediate filament intermediate filament intermediate filament intermediate filament plasma membrane

via MyGene.info

Gene · Ensembl

beaded filament structural protein 2

Symbol: BFSP2
Biotype: Protein coding
Organism: Homo sapiens
Location: 3:133,400,056-133,475,222
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 20791
exact match: identifiers.org/ncbigene/8419
genomic end: 133194066
genomic start: 133400056
cytogenetic location: 3q22.1

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

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.