BFSP2 (beaded filament structural protein 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8419
Gene name Gene Name - the full gene name approved by the HGNC.
Beaded filament structural protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BFSP2
Synonyms (NCBI Gene) Gene synonyms aliases
CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
Summary Summary of gene provided in NCBI Entrez 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 d
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017004 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 9628810
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 25416956, 25910212, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603212 1041 ENSG00000170819
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q13515
Protein name Phakinin (49 kDa cytoskeletal protein) (Beaded filament structural protein 2) (Lens fiber cell beaded filament protein CP 47) (CP47) (Lens fiber cell beaded filament protein CP 49) (CP49) (Lens intermediate filament-like light) (LIFL-L)
Protein 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). {ECO:0000250|UniProtKB:Q6NV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 104 → 415 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Lens.
Sequence
Sequence length 415
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 12 multiple types rs104893685, rs121908938, rs1576552712 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34550610
Alexander Disease Associate 17962466
Cataract Associate 10739768, 15570218, 17200662, 18958306, 19262743, 21836522, 26622071, 29914532, 36161833
Cataract zonular Associate 18958306
Eye Abnormalities Associate 21836522