Aliases for BFSP2 Gene
Aliases for BFSP2 Gene
External Ids for BFSP2 Gene
- HGNC: 1041
- Entrez Gene: 8419
- Ensembl: ENSG00000170819
- OMIM: 603212
- UniProtKB: Q13515
Previous GeneCards Identifiers for BFSP2 Gene
- GC03P130061
- GC03P133863
- GC03P134400
- GC03P134439
- GC03P134601
- GC03P133118
- GC03P130499
Summaries 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 Cataract 25. 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 ENSG00000264058.
UniProtKB/Swiss-Prot for BFSP2 Gene
-
Involved in stabilization of lens fiber cell cytoskeleton.
Additional gene information for BFSP2 Gene
- Monarch Initiative
- Search for BFSP2 at DataMed
- Search for BFSP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BFSP2 Gene
Genomics for BFSP2 Gene
GeneHancer (GH) Regulatory Elements for BFSP2 Gene
Promoters and enhancers for BFSP2 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BFSP2 gene promoter:
-
- HEN1
- IRF-2
- RSRFC4
- HFH-1
- ARP-1
- Zic3
- PPAR-gamma1
- HOXA5
- AML1a
Regulatory Element Products
Genomic Locations for BFSP2 Gene
Genomic Locations for BFSP2 Gene
- chr3:133,399,995-133,475,222
- (GRCh38/hg38)
- Size:
- 75,228 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:
-
- 3q22.1 by Entrez Gene
- 3q22.1 by HGNC
- 3q22.1 by Ensembl
BFSP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for BFSP2 Gene
Post-translational modifications for BFSP2 Gene
Other Protein References for BFSP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for BFSP2
- Invitrogen Antibodies for BFSP2
- Search GeneTex for Antibodies for BFSP2
-
Boster Bio Antibodies for BFSP2
Protein Products
-
OriGene Purified Proteins for BFSP2
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- antibodies-online: Search results for 4 available BFSP2 Proteins ranked by validation data
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-
Quality Products:
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Assay Products
- antibodies-online: Search results for 3 available BFSP2 Elisa Kits ranked by validation data
- Compare Top BFSP2 Elisa Kits
-
Quality Products:
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BFSP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13515- Family:
-
- Belongs to the intermediate filament family.
Function for BFSP2 Gene
Molecular function for BFSP2 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in stabilization of lens fiber cell cytoskeleton.
| 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 |
Phenotypes for BFSP2 Gene
- MGI mutant phenotypes for BFSP2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for BFSP2:
Animal Model Products
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- Cyagen custom Knockout/knockin (KOKI) mouse models for BFSP2
-
CRISPR Products
-
OriGene CRISPR knockouts for BFSP2
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- Overview of 81 available BFSP2 gene related products
- Applied Biological Materials CRISPR for BFSP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BFSP2
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miRNA for BFSP2 Gene
- miRTarBase miRNAs that target BFSP2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for BFSP2
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BFSP2
- Applied Biological Materials Clones for BFSP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BFSP2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 4 |
| cytosol | 4 |
| nucleus | 2 |
| mitochondrion | 1 |
- Cytosol (1)
- Plasma membrane (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005882 | intermediate filament | IEA,TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005938 | cell cortex | IEA | -- |
Pathways & Interactions for BFSP2 Gene
No Data Available
Interacting Proteins for BFSP2 Gene
Selected Interacting proteins:
Q13515-BFSP2_HUMAN
ENSP00000304987
for BFSP2 Gene via
UniProtKB
IID
STRING
GPS-Prot Interaction Network for BFSP2
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for BFSP2 Gene
Transcripts for BFSP2 Gene
mRNA/cDNA for BFSP2 Gene
- (4) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (111) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000302334 1558 bps (uc003epn.3)
- ENST00000513441 521 bps (uc062nys.1)
- ENST00000511140 374 bps (uc062nyt.1)
- ENST00000511434 660 bps (uc062nyu.1)
- ENST00000510039 643 bps (uc062nyv.1)
Unigene Clusters for BFSP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BFSP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BFSP2
- genomics-online: gRNA clones - Search results for 81 available BFSP2 gene related products
- Overview of 81 available BFSP2 gene related products
- Applied Biological Materials CRISPR for BFSP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BFSP2
- GenScript: Design CRISPR guide RNA sequences for BFSP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BFSP2
- Browse OriGene Inhibitory RNA Products For BFSP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFSP2
- genomics-online: shRNA clones - Search results for 81 available BFSP2 gene related products
- Overview of 81 available BFSP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BFSP2
- VectorBuilder custom plasmid, inducible vectors for BFSP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BFSP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BFSP2
- Applied Biological Materials Clones for BFSP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for BFSP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Cerebral Cortex
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for BFSP2 Gene
This gene is overexpressed in Spleen (x6.5).
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
NURSA nuclear receptor signaling pathways regulating expression of BFSP2 Gene:
BFSP2SOURCE GeneReport for Unigene cluster for BFSP2 Gene:
Hs.659862mRNA Expression by UniProt/SwissProt for BFSP2 Gene:
Q13515-BFSP2_HUMAN
Tissue specificity:
Lens.
Evidence on tissue expression from TISSUES for BFSP2 Gene
- Eye(4.8)
- Nervous system(4.1)
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
Primer Products
-
OriGene qPCR primer pairs for BFSP2
-
OriGene qPCR primer pairs and template standards for BFSP2
- genomics-online: primer clones - Search results for 81 available BFSP2 gene related products
- Overview of 81 available BFSP2 gene related products
Gene Expression Assay Products
Orthologs for BFSP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BFSP2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BFSP2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BFSP2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bfsp2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bfsp2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BFSP2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | BFSP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BFSP2 33 |
|
||
| CP49 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | BFSP2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bfsp2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bfsp2 34 33 |
|
OneToOne |
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for BFSP2: view image
Paralogs for BFSP2 Gene
Variants for BFSP2 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893685 | pathogenic, not-provided, Cataract 12, multiple types, not provided, Cataract 12, multiple types (CTRCT12) [MIM:611597] | 133,450,432(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs112142146 | likely-benign, benign, Cataract, Cataract 12, multiple types | 133,400,245(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs121908938 | pathogenic, not-provided, Cataract 12, multiple types, not provided | 133,448,608(+) | AAGAAGAA/AAGAA | coding_sequence_variant, inframe_deletion | |
| rs139190094 | likely-benign, Cataract | 133,475,111(+) | GG/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs139476224 | likely-benign, Cataract | 133,400,449(+) | G/A | coding_sequence_variant, synonymous_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BFSP2 Gene
Disorders for BFSP2 Gene
(9) MalaCards diseases for BFSP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cataract 12, multiple types |
|
|
| cataract 25 |
|
|
| cataract 30, multiple types |
|
|
| cataract 16, multiple types |
|
|
| cryptosporidiosis |
|
|
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.
Additional Disease Information for BFSP2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BFSP2 Gene
Publications for BFSP2 Gene
- 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 22 58
- 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 22 58
- Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PMID: 17200662) Zhang L … Liu P (Molecular vision 2006) 3 22 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. (PMID: 15570218) Zhang Q … Hejtmancik JF (Molecular vision 2004) 3 4 58
Products for BFSP2 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 45 available BFSP2 Antibodies ranked by validation data
- Compare Top BFSP2 Antibodies
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- antibodies-online: Search results for 4 available BFSP2 Proteins ranked by validation data
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Sources for BFSP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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