Aliases for MBNL2 Gene
External Ids for MBNL2 Gene
Previous GeneCards Identifiers for MBNL2 Gene
This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
GeneCards Summary for MBNL2 Gene
MBNL2 (Muscleblind Like Splicing Regulator 2) is a Protein Coding gene. Diseases associated with MBNL2 include Myotonic Dystrophy. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is MBNL1.
UniProtKB/Swiss-Prot for MBNL2 Gene
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5ACACCC-3 core sequence, termed zipcode, within the 3UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).