Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CTRCT12
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

Show/Hide all(1)

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

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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

MIM	HGNC	e!Ensembl
603212	1041	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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (150 more)	24654948, 17200662, 15570218, 10729115, 10739768
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
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

BFSP2 (beaded filament structural protein 2)