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BFSP2

Gene

beaded filament structural protein 2

HGNCHGNC:1041EnsemblENSG00000170819NCBI Gene8419
Locus: gene with protein productLocation: 3q22.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asCP49 · CP47 · LIFL-L · phakinin
View full nomenclature history (5)
Alias symbolsCP49, CP47, LIFL-L, phakinin
Previous namesbeaded filament structural protein 2, phakinin

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Cataract
Early-onset non-syndromic cataract

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Beaded filament structural proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-08-12.
Open TargetsGene–disease associations from the Open Targets Platform.