BFSP2
Sign in to saveAlso known as CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
Gen der Spezies Homo sapiens
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
Molecular function
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 20791
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8419
- genomic end
- 133194066
- genomic start
- 133400056
- chromosome
- human chromosome 3
- cytogenetic location
- 3q22.1
- expressed in
- rectum
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