BFSP2

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)
End	133,475,222 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	103,357,619 bp
RNA expression pattern
	Top expressed in
	lens; ; testicle; ; gonad; ; lymph node; ; spleen; ; granulocyte; ; appendix; ; mucosa of transverse colon; ; bone marrow cells; ; 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
	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
	8419
	107993
	ENSG00000170819
	ENSMUSG00000032556
	Q13515
	Q6NVD9
	NM_003571
	NM_001002896; NM_001364514
	NP_003562
	NP_001002896; NP_001351443
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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.