Version 5.4
Homo sapiens Gene: BFSP2
Summary
InnateDB Gene IDBG-57196.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BFSP2
Gene Name beaded filament structural protein 2, phakinin
Synonyms CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN
Species Homo sapiens
Ensembl Gene ENSG00000170819
Encoded Proteins
IDBP-57198
beaded filament structural protein 2, phakinin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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 Information
Type Protein coding
Genomic Location Chromosome 3:133399995-133475222
Strand Forward strand
Band q22.1
Transcripts
ENST00000302334 ENSP00000304987
ENST00000513441
ENST00000511140
ENST00000511434
ENST00000510039
ENST00000503047
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
Cellular Component
GO:0005737 cytoplasm
GO:0005882 intermediate filament
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032556
View Gene Order
ENSBTAG00000017659
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.659862
RefSeq NM_003571
HUGO
OMIM
CCDS CCDS33859
HPRD 04444
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca