Aliases for CELF4 Gene
External Ids for CELF4 Gene
Previous HGNC Symbols for CELF4 Gene
Previous GeneCards Identifiers for CELF4 Gene
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CELF4 Gene
CELF4 (CUGBP Elav-Like Family Member 4) is a Protein Coding gene. Diseases associated with CELF4 include Centrotemporal Epilepsy and Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is ENSG00000273025.
UniProtKB/Swiss-Prot for CELF4 Gene
RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.