Human Gene BFSP2 (ENST00000302334.3) from GENCODE V44
  Description: Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA. (from RefSeq NM_003571)
RefSeq Summary (NM_003571): 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].
Gencode Transcript: ENST00000302334.3
Gencode Gene: ENSG00000170819.5
Transcript (Including UTRs)
   Position: hg38 chr3:133,400,056-133,475,208 Size: 75,153 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr3:133,400,084-133,474,972 Size: 74,889 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:133,400,056-133,475,208)mRNA (may differ from genome)Protein (415 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BFSP2_HUMAN
DESCRIPTION: RecName: Full=Phakinin; AltName: Full=49 kDa cytoskeletal protein; AltName: Full=Beaded filament structural protein 2; AltName: Full=Lens fiber cell beaded filament protein CP 47; Short=CP47; AltName: Full=Lens fiber cell beaded filament protein CP 49; Short=CP49; AltName: Full=Lens intermediate filament-like light; Short=LIFL-L;
FUNCTION: Involved in stabilization of lens fiber cell cytoskeleton (By similarity).
SUBUNIT: Associates with BFSP1. Interacts with LGSN.
SUBCELLULAR LOCATION: Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.
TISSUE SPECIFICITY: Lens.
DISEASE: Defects in BFSP2 are the cause of cataract autosomal dominant multiple types 1 (ADC-MT1) [MIM:611597]. Cataract is 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.
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BFSP2
Diseases sorted by gene-association score: cataract 12, multiple types* (1329), cataract 25* (202), cataract 30, pulverulent* (132), cataract 16, multiple types* (106), cataract (8), presbyopia (6), coccidiosis (6), eye accommodation disease (5), cryptosporidiosis (5), cataract 9, multiple types (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.30 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 3.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.3028-0.082 Picture PostScript Text
3' UTR -63.00236-0.267 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR002957 - Keratin_I

Pfam Domains:
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on Q13515
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005212 structural constituent of eye lens
GO:0005515 protein binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007601 visual perception
GO:0045104 intermediate filament cytoskeleton organization
GO:0048469 cell maturation
GO:0050896 response to stimulus
GO:0070307 lens fiber cell development

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC113518 - Homo sapiens beaded filament structural protein 2, phakinin, mRNA (cDNA clone MGC:142078 IMAGE:8322570), complete cds.
BC113520 - Homo sapiens beaded filament structural protein 2, phakinin, mRNA (cDNA clone MGC:142080 IMAGE:8322572), complete cds.
HQ258421 - Synthetic construct Homo sapiens clone IMAGE:100072850 beaded filament structural protein 2, phakinin (BFSP2) gene, encodes complete protein.
KJ892532 - Synthetic construct Homo sapiens clone ccsbBroadEn_01926 BFSP2 gene, encodes complete protein.
KR711597 - Synthetic construct Homo sapiens clone CCSBHm_00027473 BFSP2 (BFSP2) mRNA, encodes complete protein.
KR711598 - Synthetic construct Homo sapiens clone CCSBHm_00027474 BFSP2 (BFSP2) mRNA, encodes complete protein.
KR712262 - Synthetic construct Homo sapiens clone CCSBHm_00900226 BFSP2 (BFSP2) mRNA, encodes complete protein.
U48224 - Human beaded filament protein CP49 (LIFL-L) mRNA, complete cds.
JD490625 - Sequence 471649 from Patent EP1572962.
JD364178 - Sequence 345202 from Patent EP1572962.
JD053843 - Sequence 34867 from Patent EP1572962.
JD062747 - Sequence 43771 from Patent EP1572962.
U12621 - Human beaded intermediate filament protein CP47 mRNA, 3' UTR.
JD431176 - Sequence 412200 from Patent EP1572962.
JD038731 - Sequence 19755 from Patent EP1572962.
JD164153 - Sequence 145177 from Patent EP1572962.
JD424859 - Sequence 405883 from Patent EP1572962.
JD160489 - Sequence 141513 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BFSP2_HUMAN, ENST00000302334.1, ENST00000302334.2, NM_003571, Q13515, Q14D32, Q9HBW5, uc003epn.1, uc003epn.2, uc003epn.3, uc003epn.4
UCSC ID: ENST00000302334.3
RefSeq Accession: NM_003571
Protein: Q13515 (aka BFSP2_HUMAN or BFS2_HUMAN)
CCDS: CCDS33859.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.