InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BFSP2

Summary

InnateDB Protein

IDBP-57198.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BFSP2

Protein Name

beaded filament structural protein 2, phakinin

Synonyms

CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN;

Species

Homo sapiens

Ensembl Protein

ENSP00000304987

InnateDB Gene

IDBG-57196 (BFSP2)

Protein Structure

UniProt Annotation

Function

Involved in stabilization of lens fiber cell cytoskeleton. {ECO:0000250}.

Subcellular Localization

Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.

Disease Associations

Cataract 12, multiple types (CTRCT12) [MIM:611597]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. {ECO:0000269PubMed:10729115, ECO:0000269PubMed:10739768, ECO:0000269PubMed:15570218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Lens.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005212	structural constituent of eye lens
GO:0005515	protein binding

Biological Process

GO:0007010	cytoskeleton organization
GO:0007601	visual perception
GO:0045104	intermediate filament cytoskeleton organization
GO:0048469	cell maturation
GO:0050896	response to stimulus
GO:0070307	lens fiber cell development