MBNL2 Back

muscleblind-like 2 (Drosophila)

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NCBI Description of MBNL2
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.

Community Annotation of MBNL2 Add / Edit MBNL2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MBNL2 is highly significantly mutated in
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MBNL2 is significantly mutated in
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MBNL2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for MBNL2