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Gene

bfsp2

ID
ZDB-GENE-041212-58
Name
beaded filament structural protein 2, phakinin
Symbol
bfsp2 Nomenclature History
Previous Names
  • zgc:103750 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to enable structural molecule activity. Predicted to act upstream of or within intermediate filament cytoskeleton organization. Predicted to be located in intermediate filament. Is expressed in lens and solid lens vesicle. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bfsp2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cataract 12 multiple types Alliance Cataract 12, multiple types 611597
Associated With bfsp2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR039008 Intermediate filament, rod domain
Family IPR002957 Keratin, type I
Family IPR027694 Phakinin
Homologous_superfamily IPR042180 Intermediate filament, rod domain, coil 1B
Domain Details Per Protein
Protein Length Intermediate filament, rod domain Intermediate filament, rod domain, coil 1B Keratin, type I Phakinin
UniProtKB:B0S621 438
UniProtKB:A0A286YA92 441
UniProtKB:Q5PR28 438
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-bfsp2 polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations