DISEASES

Disease-gene associations mined from literature

Literature on U2AF2

U2AF2 [ENSP00000307863]

Splicing factor U2AF 65 kDa subunit; Plays a role in pre-mRNA splicing and 3'-end processing . By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing . Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals . ECO:0000269|PubMed:19470458, ECO:0000269|PubMed:19574390,; Belongs to the splicing factor SR family.

Synonyms:  U2AF2,  U2AF2p,  hU2AF2,  K7ELP8,  K7ENG2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM