U2AF2
Function
Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). 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 (PubMed:21536736). 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 (PubMed:17024186).
Involvement in disease
Developmental delay, dysmorphic facies, and brain anomalies
DEVDFB
An autosomal dominant disorder characterized by global developmental delay with intellectual disability and speech delay, epilepsy, hypotonia, short stature, microcephaly, intermittent exotropia, and non-specific facial dysmorphism. Brain imaging shows a thin corpus callosum and/or delayed myelination.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Lysyl-hydroxylation at Lys-15 and Lys-276 affects the mRNA splicing activity of the protein, leading to regulate some, but not all, alternative splicing events.
Sequence Similarities
Belongs to the splicing factor SR family.
Cellular localization
- Nucleus
Alternative names
U2AF65, U2AF2, Splicing factor U2AF 65 kDa subunit, U2 auxiliary factor 65 kDa subunit, U2 snRNP auxiliary factor large subunit, hU2AF(65), hU2AF65