Protein detail

BFSP2

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 symbol
BFSP2
UniProt ID
EVMP score
0.50
Frequency
1
Transmembrane count
Protein classification
Disease related genesHuman disease related genesPredicted intracellular proteins
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
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 Class
Disease related genesHuman disease related genesPredicted intracellular proteins
Protein Function
  • Disease related genes
  • Predicted intracellular proteins
  • Human disease related genes:Nervous system diseases:Eye disease
Entrez Gene Symbol
Gene Synonym
CP47CP49LIFL-Lphakinin
Gene Description
Beaded filament structural protein 2
Chromosome
3
Position
133400056-133475222
Frequency
1
EVMP Score
0.50
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neuronsSingle-Nuclei Brain Specificmedium spiny neuron
Function & Pathway
Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

7 records.

CategoryParentDatabaseTransmitterReceiverSecretedPlasma Membrane (Transmembrane)Plasma Membrane (Peripheral)
intracellularintracellularLOCATENoNoNoNoNo
intracellularintracellularComPPINoNoNoNoNo
intracellularintracellularGO_IntercellNoNoNoNoNo
intracellularintracellularUniProt_locationNoNoNoNoNo
intracellularintracellularOmniPathNoNoNoNoNo
plasma_membraneplasma_membraneUniProt_locationNoNoNoNoNo
plasma_membraneplasma_membraneOmniPathNoNoNoNoNo

Regulatory Interaction Network

0 records.

Protein Complex Composition

1 record.

Component NameComponent Gene SymbolsComponent UniProt IDStoichiometryDatabaseDatabase IDsReferences
BFSP2CENPENEK2P51955Q02224Q135150:0:0hu.MAP2

Isolation & Detection Technology

1 record.

EV Isolation MethodDetection MethodNumber of ReferencesReferences
Differential UltracentrifugationSize Exclusion ChromatographyWestern BlottingMass Spectrometry136573687
Sequence, Structure & Domains

Sequences

Length
415
Mass
45,880
Sequence
MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

3D Structural Models

Domain & Motif Annotations

Compositional Bias
27..43; Low complexity
Coiled Coil
115..144; 199..253; 309..400
Domain (FT)
104..415; IF rod
Region
1..46; Disordered; 2..114; Head; 396..415; Tail
Protein Families
Intermediate filament family
Sequence Similarities
Belongs to the intermediate filament family.
Clinical Relevance
Disease Involvement
CataractDisease variant
Interaction Protein
ENSG00000012822ENSG00000107882ENSG00000109089ENSG00000125864ENSG00000128272ENSG00000164118
Interaction Count
6
Interaction Dataset
intact_biogridintact_biogrid_bioplexbiogrid_bioplex