Disease-gene associations mined from literature

Literature associating SRSF2 and atypical chronic myeloid leukemia

SRSF2 [ENSP00000376276]

Splicing factor, arginine/serine-rich 2; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre- mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment.

Synonyms:  SRSF2,  SRSF2p,  hSRSF2,  A0A024R8U5,  B3KUY1 ...

Linkouts:  STRING  Pharos  UniProt