MBNL2
Sign in to saveAlso known as MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2
Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.
Gene data
MBNL2- Name
- muscleblind like splicing regulator 2
- Type
- protein-coding
- Position
- 97,221,434–97,394,121 (+)
- Aliases
- MBLL, MBLL39, PRO2032
- Ensembl
- ENSG00000139793
- RefSeq RNA
- NM_001306070.2, NM_001382649.1, NM_001382650.1, NM_001382651.1, NM_001382652.1
- RefSeq protein
- NP_001292999.1, NP_001369578.1, NP_001369579.1, NP_001369580.1, NP_001369581.1
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].
Gene Ontology
Molecular function
Cellular component
via MyGene.info
Wikidata facts
- Image
- Protein MBNL2 PDB 2E5S.png
Show 5 more facts
- HomoloGene ID
- 76766
- exact match
- identifiers.org/ncbigene/10150
- genomic end
- 98046374
- genomic start
- 97873688
- cytogenetic location
- 13q32.1
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Article
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- References
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- External links
Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.
This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.