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 be... See more...

Aliases for BFSP2 Gene

Aliases for BFSP2 Gene

  • Beaded Filament Structural Protein 2 2 3 4 5
  • Phakinin 2 3 4
  • LIFL-L 2 3 4
  • CP47 2 3 4
  • CP49 2 3 4
  • 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
  • Bfps2, Cytoskeletal Protein, 49-KD 3
  • Beaded Filament Protein CP49 3
  • PHAKOSIN 3
  • CTRCT12 3
  • BFSP2 5

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 12, Multiple Types and Early-Onset Lamellar Cataract. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of eye lens. An important paralog of this gene is KRT10.

UniProtKB/Swiss-Prot Summary for BFSP2 Gene

  • Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity).

Gene Wiki entry for BFSP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BFSP2 Gene

Genomics for BFSP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BFSP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J133441 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +57.8 57770 28.7 CEBPG SP1 GATAD2A CTCF PRDM10 SOX13 RCOR2 BACH1 ZHX2 FOXA1 BFSP2 INHCAP CDV3 TOPBP1 RNU6-678P piR-33614-198 RF00951-111 BFSP2-AS1
GH03J133473 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 14.4 +78.4 78434 5.8 SP1 LARP7 RELA PKNOX1 RAD21 TCF12 IKZF2 TRIM22 ZNF600 EED RF00951-111 BFSP2 ENSG00000250983 ENSG00000201827 CDV3 INHCAP TOPBP1 BFSP2-AS1 piR-33614-198
GH03J133488 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 10.2 +93.2 93231 4.9 SP1 POLR2A RELA PKNOX1 TCF12 IKZF2 YY1 MNT EED ARID3A ENSG00000214301 BFSP2-AS1 LOC391578 lnc-BFSP2-1 CDV3 TOPBP1 INHCAP BFSP2
GH03J133041 Promoter/Enhancer 1 Ensembl ENCODE 10.6 -356.3 -356302 0.8 CTCF TEAD4 PRDM10 IKZF1 FOXA1 REST RAD21 TRIM22 SCRT2 ZNF444 BFSP2 TMEM108 lnc-TMEM108-1 piR-48759-212
GH03J133479 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.7 +82.3 82330 1.6 CREB1 TEAD4 PRDM10 POLR2A ZIC2 SMAD5 IKZF2 ZNF341 PKNOX1 EED ENSG00000250983 ENSG00000201827 CDV3 INHCAP TOPBP1 BFSP2 RF00951-111 LOC391578 BFSP2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BFSP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BFSP2

Top Transcription factor binding sites by QIAGEN in the BFSP2 gene promoter:
  • AML1a
  • ARP-1
  • HEN1
  • HFH-1
  • HOXA5
  • IRF-2
  • PPAR-gamma1
  • RSRFC4
  • Zic3

Genomic Locations for BFSP2 Gene

Genomic Locations for BFSP2 Gene
chr3:133,397,882-133,475,222
(GRCh38/hg38)
Size:
77,341 bases
Orientation:
Plus strand
chr3:133,118,790-133,194,066
(GRCh37/hg19)
Size:
75,277 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:
    • Part of a complex required for lens intermediate filament formation composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Found in a complex composed of PPL (via C-terminal linker domain), BFSP1 and BFSP2 in the retinal lens (By similarity). Within the complex interacts with PPL (via C-terminal linker domain) and with BFSP1 (By similarity). Identified in a complex that contains VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity). Interacts with LGSN (By similarity). Interacts with VIM (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

No data available for DME Specific Peptides for BFSP2 Gene

Domains & Families for BFSP2 Gene

Gene Families for BFSP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BFSP2 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type I keratin signature
ProtoNet:

Suggested Antigen Peptide Sequences for BFSP2 Gene

GenScript: Design optimal peptide antigens:
  • Lens intermediate filament-like light (BFSP2_HUMAN)

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:
Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity).

Phenotypes From GWAS Catalog for BFSP2 Gene

Gene Ontology (GO) - Molecular Function for BFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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

CRISPR Products

miRNA for BFSP2 Gene

miRTarBase miRNAs that target BFSP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFSP2

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. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells. {ECO:0000250 UniProtKB:Q28177}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BFSP2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 3
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament TAS,ISS --
GO:0005886 plasma membrane IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with BFSP2: view

Pathways & Interactions for BFSP2 Gene

PathCards logo

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:0045109 intermediate filament organization ISS --
GO:0048469 cell maturation 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

mRNA/cDNA for BFSP2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFSP2

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

No ASD Table

Relevant External Links for BFSP2 Gene

GeneLoc Exon Structure 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 and MOPED for BFSP2 Gene



Protein tissue co-expression partners for BFSP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for BFSP2 Gene

  • Eye(4.9)
  • Nervous system(4.4)
  • Lung(2.5)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BFSP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with BFSP2: view

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 30 31
  • 99.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BFSP2 30 31
  • 88.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BFSP2 30 31
  • 86.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bfsp2 30 17 31
  • 84.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bfsp2 30
  • 83.9 (n)
Oppossum
(Monodelphis domestica)
Mammalia BFSP2 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BFSP2 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BFSP2 30
  • 68.77 (n)
CP49 31
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BFSP2 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bfsp2 30
  • 64.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii bfsp2 30 31
  • 59.78 (n)
OneToOne
Species where no ortholog for BFSP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for BFSP2: view image

Paralogs for BFSP2 Gene

Variants for BFSP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BFSP2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
646545 Uncertain Significance: Cataract 12, multiple types 133,400,245(+) CG/C FRAMESHIFT_VARIANT
660770 Conflicting Interpretations: Cataract 12, multiple types 133,472,436(+) C/T MISSENSE_VARIANT
726950 Likely Benign: not provided 133,447,309(+) C/T INTRON_VARIANT
740805 Benign/Likely Benign: Cataract 12, multiple types 133,450,296(+) T/C INTRON_VARIANT
744871 Likely Benign: not provided 133,450,461(+) T/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BFSP2 Gene

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)

Additional Variant Information for BFSP2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BFSP2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for BFSP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 12, multiple types
  • ctrct12
early-onset lamellar cataract
early-onset sutural cataract
  • early-onset cataract with y-shaped suture opacities
cataract 30, multiple types
  • ctrct30
cataract
  • cataracts
- 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, ECO:0000269 PubMed:17200662, ECO:0000269 PubMed:17982427}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PMID: 17200662) Zhang L … Liu P (Molecular vision 2006) 3 4 23
  2. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. (PMID: 10739768) Jakobs PM … Litt M (American journal of human genetics 2000) 3 4 23
  3. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. (PMID: 8636093) Hess JF … FitzGerald PG (The Journal of biological chemistry 1996) 3 4 23
  4. Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin. (PMID: 28935373) Chaves JM … Srivastava O (Biochemical and biophysical research communications 2017) 3 4
  5. The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. (PMID: 17982427) Cui X … Fu S (Molecular vision 2007) 3 4

Products for BFSP2 Gene

Sources for BFSP2 Gene