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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
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 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).
Additional gene information for BFSP2 Gene
- HGNC(1041)
- Entrez Gene(8419)
- Ensembl(ENSG00000170819)
- OMIM(603212)
- UniProtKB(Q13515)
- Open Targets Platform(ENSG00000170819)
- Monarch Initiative
- Search for BFSP2 at DataMed
- Search for BFSP2 at HumanCyc
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
- 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:
-
- 3q22.1 by HGNC
- 3q22.1 by Entrez Gene
- 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:
-
- 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).
Protein Expression for BFSP2 Gene
Post-translational modifications for BFSP2 Gene
Other Protein References for BFSP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-BFSP2 (aa 237-320) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for BFSP2
- Novus Biologicals Antibodies for BFSP2
- Invitrogen Antibodies for BFSP2 (AFLGC-BFSP2)
-
Biorbyt antibodies for BFSP2
Protein Products
-
OriGene Purified Proteins for BFSP2
- Search Origene for MassSpec and Protein Over-expression Lysates for BFSP2
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- antibodies-online: Show 4 available BFSP2 Proteins ranked by validation data
- Compare Top BFSP2 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 5 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
- 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- Family:
-
- Belongs to the intermediate filament family.
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
| 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 |
Phenotypes for BFSP2 Gene
- MGI mutant phenotypes for BFSP2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for BFSP2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BFSP2 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for BFSP2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for BFSP2
miRNA for BFSP2 Gene
- miRTarBase miRNAs that target BFSP2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for BFSP2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for BFSP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BFSP2
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytoskeleton | 4 |
| cytosol | 4 |
| nucleus | 3 |
| mitochondrion | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 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 | TAS,ISS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005938 | cell cortex | IEA | -- |
Pathways & Interactions for BFSP2 Gene
Interacting Proteins for BFSP2 Gene
Selected Interacting proteins:
Q13515-BFSP2_HUMAN
ENSP00000304987
for BFSP2 Gene via
UniProtKB
STRING
IID
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:0045109 | intermediate filament organization | ISS | -- |
| GO:0048469 | cell maturation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for BFSP2 Gene
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 :
-
- ENST00000302334 1512 nts (view in UCSC)
- ENST00000513441 521 nts (view in UCSC)
- ENST00000511140 374 nts (view in UCSC)
- ENST00000511434 660 nts (view in UCSC)
- ENST00000510039 643 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BFSP2 - Select products 50% OFF >
- * BFSP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for BFSP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BFSP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BFSP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BFSP2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFSP2
Clone Products
- Applied Biological Materials (abm): Clones for BFSP2 - Select products 50% OFF >
- * BFSP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BFSP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BFSP2
Relevant External Links for BFSP2 Gene
- GeneLoc Exon Structure for
- BFSP2
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BFSP2
SOURCE 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(4.9)
- 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
Primer Products
-
OriGene qPCR primer pairs for BFSP2
-
OriGene qPCR primer pairs and template standards for BFSP2
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BFSP2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BFSP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bfsp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bfsp2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | BFSP2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BFSP2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BFSP2 30 |
|
||
| CP49 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | BFSP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bfsp2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bfsp2 30 31 |
|
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
Paralogs for BFSP2 Gene
- KRT10 5
- KRT12 5
- KRT16 5
- KRT18 5
- KRT37 5
- KRT38 5
- KRT15 5
- KRT19 5
- KRT14 5
- KRT17 5
- KRT24 5
- KRT20 5
- KRT35 5
- KRT36 5
- KRT4 5
- KRT8 5
- KRT84 5
- KRT26 5
- KRT27 5
- KRT33A 5
- KRT33B 5
- KRT34 5
- KRT31 5
- KRT32 5
- KRT13 5
- KRT79 5
- KRT7 5
- KRT85 5
- KRT73 5
- KRT28 5
- KRT40 5
- KRT78 5
- KRT86 5
- KRT81 5
- KRT83 5
- KRT75 5
- KRT6A 5
- KRT5 5
- KRT71 5
- KRT74 5
- KRT77 5
- INA 5
- KRT25 5
- GFAP 5
- KRT3 5
- KRT82 5
- KRT6B 5
- KRT6C 5
- KRT72 5
- KRT1 5
- KRT39 5
- NEFM 5
- KRT9 5
- KRT76 5
- VIM 5
- KRT80 5
- KRT2 5
- PRPH 5
- DES 5
- KRT23 5
- NEFL 5
- LMNA 5
- LMNB2 5
- NES 5
- LMNB1 5
- SYNM 5
- LMNTD1 5
- ENSG00000264058 5
- KRT222 5
(8) SIMAP similar genes for BFSP2 Gene using alignment to 1 proteins:
- BFSP2_HUMAN
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 |
| 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
(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 |
|
|
| early-onset lamellar cataract |
|
|
| early-onset sutural cataract |
|
|
| cataract 30, multiple types |
|
|
| cataract |
|
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
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for BFSP2 Gene
Publications for BFSP2 Gene
- Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PMID: 17200662) Zhang L … Liu P (Molecular vision 2006) 3 4 23
- 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
- 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
- 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
- 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
ExternalLinks
Products for BFSP2 Gene
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- antibodies-online: Show 15 available BFSP2 Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BFSP2
- Biorbyt antibodies for BFSP2
Sources for BFSP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB