Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene Symbol BFSP2
Synonyms CP47 | CP49 | CTRCT12 | LIFL-L | PHAKOSIN
Gene Description BFSP2, beaded filament structural protein 2, encodes one of the proteins involved in forming the intermediate filament, a component of the cytoskeleton structure, that is involved in the tissue organization of the eye lens (PMID: 19587458). A FGFR2-BFSP2 fusion has been identified in intrahepatic cholangiocarcinoma (PMID: 30420614).
Additional content available in CKB BOOST