U2AF2


Description

The U2AF2 (U2 small nuclear RNA auxiliary factor 2) is a protein-coding gene located on chromosome 19.

The U2AF2 gene encodes the U2AF large subunit, a protein crucial for pre-mRNA splicing. It contains RNA-binding motifs that recognize the polypyrimidine tract of introns, enabling the binding of U2 snRNP to the pre-mRNA branch site. U2AF2 is essential for splicing in humans and other tetrapods, but its absence in zebrafish and teleosts does not completely inhibit the process. This may be due to the presence of alternating TG and AC base pairs in some introns, which alter RNA structure and influence splicing. Multiple transcript variants have been identified for the U2AF2 gene.

U2AF2 plays a crucial role in both pre-mRNA splicing and 3'-end processing. It facilitates the recruitment of PRPF19 and the PRP19C/Prp19 complex to the RNA polymerase II C-terminal domain (CTD), potentially linking transcription with splicing. In muscle tissue, U2AF2 promotes the inclusion of exon 5 in cardiac troponin-T (TNNT2) pre-mRNA, potentially by competing with MBNL1. It preferentially binds to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Furthermore, U2AF2 is essential for mRNA export from the nucleus, even for intron-less genes. It inhibits the splicing of MAPT/Tau exon 10 and positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals.

U2AF2 is also known as DEVDFB, U2AF65.

Associated Diseases



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.