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 | SFPQ | ||||||||||
Synonyms | POMP100 | PPP1R140 | PSF | ||||||||||
Gene Description | SFPQ, splicing factor proline and glutamine rich, is a nuclear protein that interacts with RAD51 paralogs and plays a role in homologous recombination repair, and maintains sister chromatid cohesion (PMID: 20813759, PMID: 31204691). SFP1-TFE3 fusions are commonly associated with perivascular epithelioid cell tumors (PEComas) (PMID: 26274027), and a SFPQ-ABL1 fusion has been observed in B-cell precursor acute lymphoblastic leukemia (PMID: 32306475). | ||||||||||
|