BFSP2 (beaded filament structural protein 2)

Gene

• Entrez ID: 8419
• Gene name: Beaded filament structural protein 2
• Gene symbol: BFSP2
• Synonyms: 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: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
GO:0005882	Component	Intermediate filament	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007601	Process	Visual perception	IEA
GO:0045109	Process	Intermediate filament organization	ISS
GO:0048469	Process	Cell maturation	IEA
GO:0050896	Process	Response to stimulus	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

• Sequence:

  MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGT
  APSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMA
  KVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTET
  IQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRN
  YEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQA
  EVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMEL
  QNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

• Sequence length: 415

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, Cataract, Central Saccular, With Sutural Opacities, Cataract, Autosomal Dominant, Multiple Types 1, CATARACT 12, MULTIPLE TYPES, Progressive cataract, Early-onset lamellar cataract, Early-onset sutural cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	24654948, 17200662, 15570218, 10729115, 10739768
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023

Unknown
Disease name	Disease term	dbSNP ID	References
Pulverulent cataract	Pulverulent cataract