Aliases for CELF6 Gene
External Ids for CELF6 Gene
Previous HGNC Symbols for CELF6 Gene
Previous GeneCards Identifiers for CELF6 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 alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
GeneCards Summary for CELF6 Gene
CELF6 (CUGBP Elav-Like Family Member 6) is a Protein Coding gene. Diseases associated with CELF6 include Atrial Septal Defect 1 and Optic Nerve Neoplasm. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ENSG00000273025.
UniProtKB/Swiss-Prot Summary for CELF6 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.