Aliases for RBFOX2 Gene
External Ids for RBFOX2 Gene
Previous HGNC Symbols for RBFOX2 Gene
Previous GeneCards Identifiers for RBFOX2 Gene
This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for RBFOX2 Gene
RBFOX2 (RNA Binding Fox-1 Homolog 2) is a Protein Coding gene. Diseases associated with RBFOX2 include Hypoplastic Left Heart Syndrome and Human Herpesvirus 8. Among its related pathways are Signaling by FGFR2 and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBFOX1.
UniProtKB/Swiss-Prot Summary for RBFOX2 Gene
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.