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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
BFSP2-related disorder	Pathogenic	rs121908938	RCV004730836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 12 multiple types	Pathogenic	rs121908938, rs1576552712	RCV000006962 RCV000800853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT 12 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 12, MULTIPLE TYPE S	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NON-SYNDROMIC CATARACT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SUTURAL CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alexander Disease	Alexander disease	Pubtator	17962466	Associate	★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	28442584		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10739768, 10753642, 15570218, 17200662, 17490642, 17982427, 18958306, 19587458, 24654948		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	Pubtator	10739768, 15570218, 17200662, 18958306, 19262743, 21836522, 26622071, 29914532, 36161833	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	LHGDN	17982427		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cataract	Cataract	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATARACT 12, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	10729115		★☆☆☆☆ Found in Text Mining only
CATARACT 12, MULTIPLE TYPES	Cataract	UNIPROT_DG	10729115, 10739768, 15570218		★☆☆☆☆ Found in Text Mining only
CATARACT 12, MULTIPLE TYPES	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	18958306	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	10753642		★☆☆☆☆ Found in Text Mining only
Cataract, Autosomal Dominant, Multiple Types 1	Cataract	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Central Saccular, With Sutural Opacities	Cataract	ORPHANET_DG	17200662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	24654948		★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	BEFREE	24654948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	ORPHANET_DG	24654948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	10739768, 17982427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	BEFREE	18958306		★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset sutural cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Abnormalities	Eye abnormalities	Pubtator	21836522	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30342039		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	21836522		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	21836522		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	15570218		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30973903		★☆☆☆☆ Found in Text Mining only
Progressive cataract	Cataract	BEFREE	10729115		★☆☆☆☆ Found in Text Mining only
Progressive cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30973903		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	29705176		★☆☆☆☆ Found in Text Mining only
Sutural cataract	Sutural cataract	BEFREE	15570218, 17200662		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	28533288		★☆☆☆☆ Found in Text Mining only