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Aliases for BFSP2 Gene

Aliases for BFSP2 Gene

  • Beaded Filament Structural Protein 2, Phakinin 2 3
  • CP47 3 4 6
  • CP49 3 4 6
  • Lens Fiber Cell Beaded Filament Protein CP 47 3 4
  • Lens Fiber Cell Beaded Filament Protein CP 49 3 4
  • Lens Intermediate Filament-Like Light 3 4
  • 49 KDa Cytoskeletal Protein 3 4
  • CTRCT12 3 6
  • LIFL-L 3 4
  • Beaded Filament Structural Protein 2 4
  • Bfps2, Cytoskeletal Protein, 49-KD 3
  • Beaded Filament Protein CP49 3
  • PHAKOSIN 3
  • Phakinin 3

External Ids for BFSP2 Gene

Previous GeneCards Identifiers for BFSP2 Gene

  • GC03P130061
  • GC03P133863
  • GC03P134400
  • GC03P134439
  • GC03P134601
  • GC03P133118
  • GC03P130499

Summaries for BFSP2 Gene

Entrez Gene Summary for BFSP2 Gene

  • 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]

GeneCards Summary for BFSP2 Gene

BFSP2 (Beaded Filament Structural Protein 2, Phakinin) is a Protein Coding gene. Diseases associated with BFSP2 include cataract 12, multiple types and cataract, autosomal dominant, multiple types 1. GO annotations related to this gene include structural constituent of cytoskeleton and structural constituent of eye lens. An important paralog of this gene is KRT23.

UniProtKB/Swiss-Prot for BFSP2 Gene

  • Involved in stabilization of lens fiber cell cytoskeleton.

Gene Wiki entry for BFSP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BFSP2 Gene

Genomics for BFSP2 Gene

Regulatory Elements for BFSP2 Gene

Genomic Location for BFSP2 Gene

Start:
133,399,995 bp from pter
End:
133,475,222 bp from pter
Size:
75,228 bases
Orientation:
Plus strand

Genomic View for BFSP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BFSP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BFSP2 Gene

Proteins for BFSP2 Gene

  • Protein details for BFSP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13515-BFSP2_HUMAN
    Recommended name:
    Phakinin
    Protein Accession:
    Q13515
    Secondary Accessions:
    • Q14D32
    • Q9HBW5

    Protein attributes for BFSP2 Gene

    Size:
    415 amino acids
    Molecular mass:
    45880 Da
    Quaternary structure:
    • Associates with BFSP1. Interacts with LGSN

neXtProt entry for BFSP2 Gene

Proteomics data for BFSP2 Gene at MOPED

Post-translational modifications for BFSP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BFSP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BFSP2 Gene

Domains for BFSP2 Gene

Gene Families for BFSP2 Gene

HGNC:
  • IFF6 :Intermediate filaments type VI, eye lens intermediate filaments

Protein Domains for BFSP2 Gene

Suggested Antigen Peptide Sequences for BFSP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13515

UniProtKB/Swiss-Prot:

BFSP2_HUMAN :
  • Q13515
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with BFSP2: view

Function for BFSP2 Gene

Molecular function for BFSP2 Gene

UniProtKB/Swiss-Prot Function: Involved in stabilization of lens fiber cell cytoskeleton.

Gene Ontology (GO) - Molecular Function for BFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton TAS 9628810
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with BFSP2: view

Phenotypes for BFSP2 Gene

MGI mutant phenotypes for BFSP2:
inferred from 3 alleles
genes like me logo Genes that share phenotypes with BFSP2: view

Animal Models for BFSP2 Gene

MGI Knock Outs for BFSP2:

Animal Model Products

CRISPR Products

miRNA for BFSP2 Gene

miRTarBase miRNAs that target BFSP2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BFSP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BFSP2 Gene

Localization for BFSP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFSP2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BFSP2 Gene COMPARTMENTS Subcellular localization image for BFSP2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
chloroplast 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005882 intermediate filament IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with BFSP2: view

Pathways for BFSP2 Gene

SuperPathways for BFSP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization --
GO:0007601 visual perception IEA --
GO:0045104 intermediate filament cytoskeleton organization IEA --
GO:0048469 cell maturation IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with BFSP2: view

No data available for Pathways by source for BFSP2 Gene

Compounds for BFSP2 Gene

(1) Novoseek inferred chemical compound relationships for BFSP2 Gene

Compound -log(P) Hits PubMed IDs
cp-49 98.9 65
genes like me logo Genes that share compounds with BFSP2: view

Transcripts for BFSP2 Gene

mRNA/cDNA for BFSP2 Gene

Unigene Clusters for BFSP2 Gene

Beaded filament structural protein 2, phakinin:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BFSP2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BFSP2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BFSP2 Gene

No ASD Table

Relevant External Links for BFSP2 Gene

GeneLoc Exon Structure for
BFSP2
ECgene alternative splicing isoforms for
BFSP2

Expression for BFSP2 Gene

mRNA expression in normal human tissues for BFSP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BFSP2 Gene

This gene is overexpressed in Spleen (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BFSP2 Gene

SOURCE GeneReport for Unigene cluster for BFSP2 Gene Hs.659862

mRNA Expression by UniProt/SwissProt for BFSP2 Gene

Q13515-BFSP2_HUMAN
Tissue specificity: Lens
genes like me logo Genes that share expressions with BFSP2: view

In Situ Assay Products

Orthologs for BFSP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BFSP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BFSP2 35
  • 99.12 (n)
  • 99.28 (a)
BFSP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BFSP2 35
  • 86.15 (n)
  • 86.96 (a)
BFSP2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BFSP2 35
  • 88.19 (n)
  • 88.43 (a)
BFSP2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bfsp2 35
  • 84.06 (n)
  • 84.78 (a)
Bfsp2 16
Bfsp2 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BFSP2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BFSP2 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bfsp2 35
  • 83.9 (n)
  • 85.75 (a)
chicken
(Gallus gallus)
Aves BFSP2 35
  • 68.77 (n)
  • 65.66 (a)
CP49 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BFSP2 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bfsp2 35
  • 64.46 (n)
  • 62.34 (a)
zebrafish
(Danio rerio)
Actinopterygii bfsp2 35
  • 59.78 (n)
  • 54.85 (a)
bfsp2 36
  • 49 (a)
OneToOne
Species with no ortholog for BFSP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BFSP2 Gene

ENSEMBL:
Gene Tree for BFSP2 (if available)
TreeFam:
Gene Tree for BFSP2 (if available)

Paralogs for BFSP2 Gene

Paralogs for BFSP2 Gene

Selected SIMAP similar genes for BFSP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BFSP2: view

Variants for BFSP2 Gene

Sequence variations from dbSNP and Humsavar for BFSP2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs899457 -- 133,472,471(-) TTGCT(A/G)CTGCT reference, stop-gained
rs899458 -- 133,472,249(-) TAGCC(C/T)GGACT intron-variant
rs931099 -- 133,460,736(+) TCCCA(C/T)GGGAC intron-variant
rs1047649 -- 133,426,486(-) ATTCT(C/G)TAAAA intron-variant
rs1047650 -- 133,426,451(-) GGAGC(C/T)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BFSP2 Gene

Variant ID Type Subtype PubMed ID
nsv460857 CNV Loss 19166990
nsv877504 CNV Loss 21882294
nsv509853 CNV Loss 20534489
esv25562 CNV Gain+Loss 19812545
esv2725938 CNV Deletion 23290073
esv2725939 CNV Deletion 23290073
esv1102121 CNV Insertion 17803354
esv2673403 CNV Deletion 23128226
esv2725941 CNV Deletion 23290073
nsv522281 CNV Gain 19592680
nsv819235 CNV Gain 19587683
nsv822261 CNV Gain 20364138
nsv819448 CNV Loss 19587683
nsv877505 CNV Gain 21882294
nsv237800 CNV Loss 16902084

Relevant External Links for BFSP2 Gene

HapMap Linkage Disequilibrium report
BFSP2
Human Gene Mutation Database (HGMD)
BFSP2
Locus Specific Mutation Databases (LSDB)
BFSP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BFSP2 Gene

Disorders for BFSP2 Gene

(1) OMIM Diseases for BFSP2 Gene (603212)

UniProtKB/Swiss-Prot

BFSP2_HUMAN
  • 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:0000269 PubMed:10729115, ECO:0000269 PubMed:10739768, ECO:0000269 PubMed:15570218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for BFSP2 Gene

Disease -log(P) Hits PubMed IDs
congenital cataract 74.6 1
cataract 60.2 8

Relevant External Links for BFSP2

Genetic Association Database (GAD)
BFSP2
genes like me logo Genes that share disorders with BFSP2: view

Publications for BFSP2 Gene

  1. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. (PMID: 8636093) Hess J.F. … FitzGerald P.G. (J. Biol. Chem. 1996) 3 4 23
  2. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. (PMID: 10739768) Jakobs P.M. … Litt M. (Am. J. Hum. Genet. 2000) 3 4 23
  3. Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. (PMID: 10753642) Carter J.M. … Quinlan R.A. (Biochem. Biophys. Res. Commun. 2000) 3 23
  4. Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. (PMID: 7720401) Hess J.F. … FitzGerald P.G. (Curr. Eye Res. 1995) 3 23
  5. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PMID: 17200662) Zhang L. … Liu P. (Mol. Vis. 2006) 3 23

Products for BFSP2 Gene

Sources for BFSP2 Gene

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