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)
Entry name BFSP2 | UniProt ID | EVMP confidence score 0.40 |
Supporting publications (n) 1 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins |
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.70High >= 0.60Medium >= 0.40Low >= 0.30Basic 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 (3)
Disease related genesHuman disease related genesPredicted intracellular proteins
Protein Function (3)
- Disease related genes
- Predicted intracellular proteins
- Human disease related genes:Nervous system diseases:Eye disease
Ensembl
Entrez Gene Symbol
Gene Synonym (4)
CP47CP49LIFL-Lphakinin
Gene Description
Beaded filament structural protein 2
Chromosome
3
Position
133400056-133475222
Supporting publications (n)
1
EVMP confidence score
0.40
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neuronsSingle-Nuclei Brain Specificmedium spiny neuron
Function & Pathway
Protein Function (3)
- Disease related genes
- Predicted intracellular proteins
- Human disease related genes:Nervous system diseases:Eye disease
Cellular Component (4)
Molecular Function (3)
Biological Process (3)
Mediation Categories
Fusion and delivery mediation
Relations & Evidence9
Ligand-Receptor Signaling (7)
7 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | |||||
| intracellular | intracellular | ComPPI | |||||
| intracellular | intracellular | GO_Intercell | |||||
| intracellular | intracellular | UniProt_location | |||||
| intracellular | intracellular | OmniPath | |||||
| plasma_membrane | plasma_membrane | UniProt_location | |||||
| plasma_membrane | plasma_membrane | OmniPath |
Protein Complex Composition (1)
Isolation & Detection Technology (1)
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential UltracentrifugationSize Exclusion Chromatography | Western BlottingMass Spectrometry | 1 | 36573687 |
Sequence, Structure & Domains
Sequences
Length
415
Mass
45,880
Sequence
MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG
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 (2)
CataractDisease variant
Related Diseases
Interaction Protein (6)
ENSG00000012822ENSG00000107882ENSG00000109089ENSG00000125864ENSG00000128272ENSG00000164118
Interaction Count
6
Interaction Dataset (3)
intact_biogridintact_biogrid_bioplexbiogrid_bioplex
Supporting Publications1
| PMID | Title | Related sentences |
|---|---|---|
| 31805958 | Proteomic analysis of cerebrospinal fluid extracellular vesicles reveals synaptic injury, inflammation, and stress response markers in HIV patients with cognitive impairment. | No related sentences available |