BFSP2 (beaded filament structural protein 2)

Gene

• Entrez ID: 8419
• Gene name: Beaded filament structural protein 2
• Gene symbol: BFSP2
• Synonyms (NCBI Gene): CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT017004	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

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
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005882	Component	Intermediate filament	TAS	9628810
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045109	Process	Intermediate filament organization	ISS
GO:0048469	Process	Cell maturation	IEA
GO:0070307	Process	Lens fiber cell development	IEA

Other IDs

• MIM: 603212
• HGNC: 1041
• e!Ensembl: ENSG00000170819

Protein

• 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:

  MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGT
  APSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMA
  KVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTET
  IQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRN
  YEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQA
  EVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMEL
  QNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

• Sequence length: 415

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
BFSP2-related disorder	Pathogenic	rs121908938	RCV004730836
Cataract 12 multiple types	Pathogenic	rs121908938, rs1576552712	RCV000006962 RCV000800853

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract	Likely benign	rs139190094	RCV000295033
Developmental cataract	Uncertain significance; Benign	rs200369728, rs774824478	RCV001775021 RCV000490770

Associations from Text Mining
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