BFSP2

GENE INFORMATION

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Gene name

BFSP2 (HGNC Symbol)

Synonyms

CP47, CP49, LIFL-L, phakinin

Description

Beaded filament structural protein 2, phakinin (HGNC Symbol)

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]

Chromosome

3

Cytoband

q22.1

Chromosome location (bp)

133118839 - 133194066

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000170819 (version 75.37)

Entrez gene

8419

UniProt

Q13515 (UniProt - Evidence at protein level)

neXtProt

NX_Q13515

Antibodypedia

BFSP2 antibodies
 

PROTEIN VIEW

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BFSP2-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BFSP2-001 ENSP00000304987
ENST00000302334
Q13515
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