SRSF2
Description
The SRSF2 (serine and arginine rich splicing factor 2) is a protein-coding gene located on chromosome 17.
SRSF2 (Serine/arginine-rich splicing factor 2) is a protein encoded by the SRSF2 gene in humans. It is involved in pre-mRNA splicing, and its mutations have been linked to myelodysplastic syndromes (MDS). SRSF2 variants affect the expression of specific isoforms and disrupt granulopoiesis. The P95H mutation in SRSF2 promotes splicing of Class IV isoforms by binding to specific sequences within CSF3R exon 17, contributing to dysgranulopoiesis. SRSF2 interacts with CDC5L and ASF/SF2.
SRSF2 plays a critical role in pre-mRNA splicing. It participates in the formation of the initial ATP-dependent splicing complex, interacting with components bound to both 5' and 3' splice sites during spliceosome assembly. SRSF2 is essential for the ATP-dependent binding of U1 and U2 snRNPs to pre-mRNA. Through its RS domains, SRSF2 interacts with other spliceosomal components, bridging the 5' and 3' splice site binding components, U1 snRNP and U2AF. SRSF2 binds to purine-rich RNA sequences, specifically 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. It can bind to beta-globin mRNA, committing it to the splicing pathway. Phosphorylation of SRSF2 by SRPK2 is crucial for cellular apoptosis in response to cisplatin treatment.
SRSF2 is also known as PR264, SC-35, SC35, SFRS2, SFRS2A, SRp30b.
