RBFOX2


Description

The RBFOX2 (RNA binding fox-1 homolog 2) is a protein-coding gene located on chromosome 22.

RBFOX2 is a protein encoded by the RBM9 gene in humans. It is similar to the C. elegans gene Fox-1 and is a key regulator of alternative splicing in the nervous system and other cell types. RBFOX2, along with Rbfox1, binds to conserved (U)GCAUG RNA motifs in introns adjacent to many alternatively spliced exons, promoting inclusion or exclusion of the alternative exon in mature transcripts. It interacts with the estrogen receptor 1 transcription factor and regulates its transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. RBFOX2 binds near alternatively spliced exons and regulates their inclusion or exclusion during alternative splicing by binding in introns either downstream (inclusion) or upstream (exon skipping) of exons. RBFOX2 is important for stem cell survival, and knockdowns of RBFOX2 activate markers for apoptosis.

RBFOX2 is an RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. It prevents binding of U2AF2 to the 3'-splice site and regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. It acts as a coregulatory factor of ER-alpha and, together with RBPMS and MBNL1/2, activates vascular smooth muscle cells alternative splicing events.

RBFOX2 is also known as FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh.

Associated Diseases



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