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Aliases for BFSP2 Gene

Aliases for BFSP2 Gene

  • Beaded Filament Structural Protein 2 2 3 4 5
  • Beaded Filament Structural Protein 2, Phakinin 2 3
  • 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
  • LIFL-L 3 4
  • CP47 3 4
  • CP49 3 4
  • Bfps2, Cytoskeletal Protein, 49-KD 3
  • Beaded Filament Protein CP49 3
  • PHAKOSIN 3
  • Phakinin 3
  • CTRCT12 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) is a Protein Coding gene. Diseases associated with BFSP2 include Cataract 25 and Cataract 30, Pulverulent. GO annotations related to this gene include structural molecule activity and structural constituent of eye lens. An important paralog of this gene is KRT18.

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

Enhancers for BFSP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F133466 0.9 Ensembl ENCODE 19.9 +67.5 67523 2.5 USF1 HLF ZBED1 CEBPG YY1 IKZF1 GLIS1 NBN ZBTB33 BFSP2 TOPBP1 RNU6-678P TFP1 GC03P133475 GC03P133476 BFSP2-AS1
GH03F133441 1 Ensembl ENCODE 19.6 +53.7 53706 24.8 PKNOX1 FEZF1 ZNF48 YY1 GATA2 CBX5 ZNF207 FOS ZNF263 NFYC BFSP2 CDV3 TFP1 TOPBP1 RNU6-678P BFSP2-AS1 ENSG00000249820
GH03F133473 1 Ensembl ENCODE 14.4 +76.5 76506 5.5 PKNOX1 TBL1XR1 ZBTB40 CBX5 ETV6 CREM JUNB TBX21 SP1 RAD51 BFSP2 BFSP2-AS1 ENSG00000250983 ENSG00000201827 CDV3 TFP1 TOPBP1 GC03P133475 GC03P133476 GC03P133482
GH03F133440 0.7 ENCODE 11.8 +40.8 40827 0.4 BCOR ESRRA LEF1 JUN ZNF175 BACH1 ZMYM3 FOSL1 ZNF316 GATA2 BFSP2 CDV3 BFSP2-AS1 ENSG00000249820
GH03F133041 0.2 ENCODE 10.6 -358.4 -358415 0.8 CTCF ZNF654 TEAD1 TEAD4 TRIM22 REST RAD21 SCRT2 IKZF1 GLIS1 BFSP2 TMEM108 TMEM108-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BFSP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BFSP2 Gene

Chromosome:
3
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

Genes around BFSP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BFSP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (By similarity). Interacts with LGSN. Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).

neXtProt entry for BFSP2 Gene

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 & Families for BFSP2 Gene

Gene Families for BFSP2 Gene

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 :
  • Belongs to the intermediate filament family.
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: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
genes like me logo Genes that share phenotypes with BFSP2: view

Human Phenotype Ontology for BFSP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BFSP2 Gene

MGI Knock Outs for BFSP2:

Animal Model Products

miRNA for BFSP2 Gene

miRTarBase miRNAs that target BFSP2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for BFSP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFSP2 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Detected adjacent to the cell membrane. {ECO:0000250 UniProtKB:Q28177}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BFSP2 Gene COMPARTMENTS Subcellular localization image for BFSP2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
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:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA,TAS --
GO:0005886 plasma membrane IDA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with BFSP2: view

Pathways & Interactions 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 IEA --
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 and SIGNOR curated interactions for BFSP2 Gene

Drugs & Compounds for BFSP2 Gene

(1) Additional Compounds for BFSP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BFSP2: view

Transcripts for BFSP2 Gene

Unigene Clusters for BFSP2 Gene

Beaded filament structural protein 2, phakinin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x6.5).

Protein differential expression in normal tissues from HIPED for BFSP2 Gene

This gene is overexpressed in Vitreous humor (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BFSP2 Gene



Protein tissue co-expression partners for BFSP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BFSP2 Gene:

BFSP2

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 expression patterns with BFSP2: view

Primer 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 34 35
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia BFSP2 34 35
  • 88.19 (n)
cow
(Bos Taurus)
Mammalia BFSP2 34 35
  • 86.15 (n)
mouse
(Mus musculus)
Mammalia Bfsp2 34 16 35
  • 84.06 (n)
rat
(Rattus norvegicus)
Mammalia Bfsp2 34
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia BFSP2 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BFSP2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves BFSP2 34
  • 68.77 (n)
CP49 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BFSP2 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bfsp2 34
  • 64.46 (n)
zebrafish
(Danio rerio)
Actinopterygii bfsp2 34 35
  • 59.78 (n)
Species where no ortholog for BFSP2 was found in the sources mined by GeneCards:
  • 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

(8) 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
rs104893685 Cataract 12, multiple types (CTRCT12) [MIM:611597], Pathogenic 133,450,432(+) AGAAC(A/C/T)GGGTG intron-variant, reference, synonymous-codon, missense
rs121908938 Pathogenic 133,448,613(+) AAGAA(-/GAA)CTTGG intron-variant, cds-indel
rs190627417 Uncertain significance 133,450,434(+) AACCG(A/G/T)GTGGA intron-variant, reference, synonymous-codon
rs79087781 Benign 133,472,541(+) CCACG(A/C)CCTGC intron-variant, reference, missense
rs1047649 -- 133,426,486(-) ATTCT(C/G)TAAAA intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv4903n100 CNV loss 25217958
dgv8605n54 CNV loss 21841781
dgv8606n54 CNV loss 21841781
dgv8607n54 CNV gain 21841781
dgv8608n54 CNV gain+loss 21841781
esv1102121 CNV insertion 17803354
esv25562 CNV gain+loss 19812545
esv2673403 CNV deletion 23128226
esv2725938 CNV deletion 23290073
esv2725939 CNV deletion 23290073
esv2725941 CNV deletion 23290073
esv3562572 CNV deletion 23714750
nsv1109546 CNV deletion 24896259
nsv237800 CNV deletion 16902084
nsv460857 CNV loss 19166990
nsv472727 CNV novel sequence insertion 20440878
nsv509853 OTHER sequence alteration 20534489
nsv522281 CNV gain 19592680
nsv591801 CNV loss 21841781
nsv591811 CNV loss 21841781
nsv591819 CNV gain 21841781
nsv591820 CNV loss 21841781
nsv819235 CNV gain 19587683
nsv819448 CNV loss 19587683
nsv822261 CNV gain 20364138
nsv955348 CNV deletion 24416366

Variation tolerance for BFSP2 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BFSP2 Gene

Human Gene Mutation Database (HGMD)
BFSP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BFSP2

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

Disorders for BFSP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BFSP2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 25
  • ccsso
cataract 30, pulverulent
  • cataract 30
cataract 16, multiple types
  • cataract 16 multiple types
presbyopia
cataract
- elite association - COSMIC cancer census association via MalaCards
Search BFSP2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BFSP2

Genetic Association Database (GAD)
BFSP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BFSP2
genes like me logo Genes that share disorders with BFSP2: view

No data available for Genatlas for BFSP2 Gene

Publications for BFSP2 Gene

  1. 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 22 64
  2. 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 22 64
  3. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PMID: 17200662) Zhang L. … Liu P. (Mol. Vis. 2006) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. (PMID: 15570218) Zhang Q. … Hejtmancik J.F. (Mol. Vis. 2004) 3 4 64

Products for BFSP2 Gene

Sources for BFSP2 Gene

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