Aliases for CELF5 Gene
External Ids for CELF5 Gene
Previous HGNC Symbols for CELF5 Gene
Previous GeneCards Identifiers for CELF5 Gene
This gene encodes a member of the the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
GeneCards Summary for CELF5 Gene
CELF5 (CUGBP Elav-Like Family Member 5) is a Protein Coding gene. Diseases associated with CELF5 include Atrial Septal Defect 1 and Specific Language Impairment. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is CELF6.
UniProtKB/Swiss-Prot Summary for CELF5 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. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.