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
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";
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.
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.