BFSP2

Functionⁱ

Involved in stabilization of lens fiber cell cytoskeleton.By similarity

GO - Molecular functionⁱ

structural constituent of cytoskeleton
Source: ProtInc
Traceable author statementⁱ
- 9628810
structural constituent of eye lens Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

cell maturation Source: Ensembl
intermediate filament cytoskeleton organization Source: Ensembl
lens fiber cell development Source: Ensembl
response to stimulus Source: UniProtKB-KW
visual perception Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Eye lens protein
Biological process	Sensory transduction, Vision

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Phakinin Alternative name(s): 49 kDa cytoskeletal protein Beaded filament structural protein 2 Lens fiber cell beaded filament protein CP 47 Short name: CP47 Lens fiber cell beaded filament protein CP 49 Short name: CP49 Lens intermediate filament-like light Short name: LIFL-L
Gene namesⁱ	Name:BFSP2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000170819.4
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1041 BFSP2
MIMⁱ	603212 gene
neXtProtⁱ	NX_Q13515

Keywords - Cellular componentⁱ

Cell membrane, Cytoplasm, Cytoskeleton, Intermediate filament, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cataract 12, multiple types (CTRCT12)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.

Keywords - Diseaseⁱ

Cataract, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	8419
MalaCards human disease database More...MalaCardsⁱ	BFSP2
MIMⁱ	611597 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000170819
Orphanetⁱ	441452 Early-onset lamellar cataract 98985 Early-onset sutural cataract 98984 Pulverulent cataract
PharmGKBⁱ	PA25344

Polymorphism and mutation databases

DMDMⁱ	17366451

DMDMⁱ

17366451

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000063851	1 – 415	PhakininAdd BLAST		415

Proteomic databases

EPDⁱ	Q13515
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q13515
PaxDbⁱ	Q13515
PeptideAtlas More...PeptideAtlasⁱ	Q13515
PRIDEⁱ	Q13515
ProteomicsDBⁱ	59513

PTM databases

iPTMnetⁱ	Q13515
PhosphoSitePlusⁱ	Q13515

Expressionⁱ

Tissue specificityⁱ

Lens.

Gene expression databases

Bgeeⁱ	ENSG00000170819 Expressed in 54 organ(s), highest expression level in lens of camera-type eye
CleanExⁱ	HS_BFSP2
Genevisibleⁱ	Q13515 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA038464 HPA062959

HPAⁱ

HPA038464
HPA062959

Interactionⁱ

Subunit structureⁱ

Associates with BFSP1 (By similarity). Interacts with LGSN. Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).By similarity

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
ATF4	P18848	8	EBI-10229433,EBI-492498
MBIP	Q9NS73-5	6	EBI-10229433,EBI-10182361
SYCE1	Q8N0S2	8	EBI-10229433,EBI-6872807
USHBP1	Q8N6Y0	5	EBI-10229433,EBI-739895

Protein-protein interaction databases

BioGridⁱ	114005, 18 interactors
IntActⁱ	Q13515, 57 interactors
STRINGⁱ	9606.ENSP00000304987

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q13515
SMRⁱ	Q13515
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	104 – 415	IF rodPROSITE-ProRule annotationAdd BLAST		312

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 114	HeadAdd BLAST		114
Regionⁱ	396 – 415	TailAdd BLAST		20

Coiled coil

Feature key	Position(s)	DescriptionActions	Length
Coiled coilⁱ	115 – 144	Sequence analysisAdd BLAST	30
Coiled coilⁱ	199 – 253	Sequence analysisAdd BLAST	55
Coiled coilⁱ	309 – 400	Sequence analysisAdd BLAST	92

Sequence similaritiesⁱ

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Coiled coil, Repeat

Phylogenomic databases

eggNOGⁱ	ENOG410IHF9 Eukaryota ENOG410XQY0 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144173
HOGENOMⁱ	HOG000230975
HOVERGENⁱ	HBG013015
InParanoidⁱ	Q13515
KEGG Orthology (KO) More...KOⁱ	K10379
OMAⁱ	VKVLYKQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G09SM
PhylomeDBⁱ	Q13515
TreeFamⁱ	TF332742

Family and domain databases

InterProⁱ	View protein in InterPro IPR001664 IF IPR039008 IF_rod_dom IPR002957 Keratin_I IPR027694 Phakinin
PANTHERⁱ	PTHR23239 PTHR23239, 1 hit PTHR23239:SF32 PTHR23239:SF32, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00038 Filament, 1 hit
PRINTSⁱ	PR01248 TYPE1KERATIN
SMARTⁱ	View protein in SMART SM01391 Filament, 1 hit
PROSITEⁱ	View protein in PROSITE PS51842 IF_ROD_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q13515-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL 
        60         70         80         90        100
VRAPGVYVGT APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG 
       110        120        130        140        150
LERDHGAVED LGGCLVEYMA KVHALEQVSQ ELETQLRMHL ESKATRSGNW 
       160        170        180        190        200
GALRASWASS CQQVGEAVLE NARLMLQTET IQAGADDFKE RYENEQPFRK 
       210        220        230        240        250
AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN YEEDVKLLHK 
       260        270        280        290        300
QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA 
       310        320        330        340        350
EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH 
       360        370        380        390        400
DAKHWHDMEL QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK 
       410 
DVASYHALLD REESG

Length:415

Mass (Da):45,880

Last modified:November 1, 1996 - v1

Checksum:ⁱ4CB899386D443FEA

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_012163	233	Missing in CTRCT12. 2 Publications		1
Natural variantⁱVAR_012164	287	R → W in CTRCT12. 1 PublicationCorresponds to variant dbSNP:rs104893685EnsemblClinVar.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U48224 mRNA Translation: AAC50414.1 BC113518 mRNA Translation: AAI13519.1 BC113520 mRNA Translation: AAI13521.1 AF195044 Genomic DNA Translation: AAG30728.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33859.1
NCBI Reference Sequences More...RefSeqⁱ	NP_003562.1, NM_003571.3 XP_016862804.1, XM_017007315.1
UniGeneⁱ	Hs.659862

Genome annotation databases

Ensemblⁱ	ENST00000302334; ENSP00000304987; ENSG00000170819
GeneIDⁱ	8419
KEGGⁱ	hsa:8419
UCSC genome browser More...UCSCⁱ	uc003epn.3 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q13515	Uncharacterized protein		PONAB		443	UniRef90_Q13515
Beaded filament structural protein 2		SAIBB		415
Uncharacterized protein		NOMLE		415
Uncharacterized protein		ICTTR		415
Beaded filament structural protein 2		MACMU		415
+23

Protein	Similar proteins		Species	Score	Length	Source
Q13515	Phakinin		MOUSE		416	UniRef50_Q6NVD9
Phakinin		BOVIN		415
Beaded filament structural protein 2		RAT		416
Phakinin		CRIGR		416
phakinin		MESAU		398
+123

Cross-referencesⁱ

Web resourcesⁱ

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U48224 mRNA Translation: AAC50414.1 BC113518 mRNA Translation: AAI13519.1 BC113520 mRNA Translation: AAI13521.1 AF195044 Genomic DNA Translation: AAG30728.1
CCDSⁱ	CCDS33859.1
RefSeqⁱ	NP_003562.1, NM_003571.3 XP_016862804.1, XM_017007315.1
UniGeneⁱ	Hs.659862

3D structure databases

ProteinModelPortalⁱ	Q13515
SMRⁱ	Q13515
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114005, 18 interactors
IntActⁱ	Q13515, 57 interactors
STRINGⁱ	9606.ENSP00000304987

PTM databases

iPTMnetⁱ	Q13515
PhosphoSitePlusⁱ	Q13515

Polymorphism and mutation databases

DMDMⁱ	17366451

DMDMⁱ

17366451

Proteomic databases

EPDⁱ	Q13515
MaxQBⁱ	Q13515
PaxDbⁱ	Q13515
PeptideAtlasⁱ	Q13515
PRIDEⁱ	Q13515
ProteomicsDBⁱ	59513

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	8419
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000302334; ENSP00000304987; ENSG00000170819
GeneIDⁱ	8419
KEGGⁱ	hsa:8419
UCSCⁱ	uc003epn.3 human

Organism-specific databases

CTDⁱ	8419
DisGeNETⁱ	8419
EuPathDBⁱ	HostDB:ENSG00000170819.4
GeneCardsⁱ	BFSP2
HGNCⁱ	HGNC:1041 BFSP2
HPAⁱ	HPA038464 HPA062959
MalaCardsⁱ	BFSP2
MIMⁱ	603212 gene 611597 phenotype
neXtProtⁱ	NX_Q13515
OpenTargetsⁱ	ENSG00000170819
Orphanetⁱ	441452 Early-onset lamellar cataract 98985 Early-onset sutural cataract 98984 Pulverulent cataract
PharmGKBⁱ	PA25344
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IHF9 Eukaryota ENOG410XQY0 LUCA
GeneTreeⁱ	ENSGT00910000144173
HOGENOMⁱ	HOG000230975
HOVERGENⁱ	HBG013015
InParanoidⁱ	Q13515
KOⁱ	K10379
OMAⁱ	VKVLYKQ
OrthoDBⁱ	EOG091G09SM
PhylomeDBⁱ	Q13515
TreeFamⁱ	TF332742

Miscellaneous databases

GeneWikiⁱ	BFSP2
GenomeRNAiⁱ	8419
Protein Ontology More...PROⁱ	PR:Q13515
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000170819 Expressed in 54 organ(s), highest expression level in lens of camera-type eye
CleanExⁱ	HS_BFSP2
Genevisibleⁱ	Q13515 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR001664 IF IPR039008 IF_rod_dom IPR002957 Keratin_I IPR027694 Phakinin
PANTHERⁱ	PTHR23239 PTHR23239, 1 hit PTHR23239:SF32 PTHR23239:SF32, 1 hit
Pfamⁱ	View protein in Pfam PF00038 Filament, 1 hit
PRINTSⁱ	PR01248 TYPE1KERATIN
SMARTⁱ	View protein in SMART SM01391 Filament, 1 hit
PROSITEⁱ	View protein in PROSITE PS51842 IF_ROD_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	BFSP2_HUMAN
Accessionⁱ	Q13515Primary (citable) accession number: Q13515 Secondary accession number(s): Q14D32, Q9HBW5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
	Last sequence update:	November 1, 1996
	Last modified:	November 7, 2018
	This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q13515 (BFSP2_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Phakinin

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Cytoskeleton

Other locations

Cytoskeleton

Plasma Membrane

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Coiled coil

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ