| UniProt Protein Function: | MBNL2: 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 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR 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). Belongs to the muscleblind family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:RNA-binding Chromosomal Location of Human Ortholog: 13q32.1 Biological Process: regulation of RNA splicing |
| NCBI Summary: | 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] |
| UniProt Code: | Q5VZF2 |
| NCBI GenInfo Identifier: | 125952110 |
| NCBI Gene ID: | 10150 |
| NCBI Accession: | Q5VZF2.2 |
| UniProt Secondary Accession: | Q5VZF2,Q3SXY5, Q58F19, Q8NEV3, Q8TD82, |
| UniProt Related Accession: | Q5VZF2 |
| Molecular Weight: | 39,356 Da |
| NCBI Full Name: | Muscleblind-like protein 2 |
| NCBI Synonym Full Names: | muscleblind like splicing regulator 2 |
| NCBI Official Symbol: | MBNL2 |
| NCBI Official Synonym Symbols: | MBLL; MBLL39; PRO2032 |
| NCBI Protein Information: | muscleblind-like protein 2 |
| UniProt Protein Name: | Muscleblind-like protein 2 |
| UniProt Synonym Protein Names: | Muscleblind-like protein 1; Muscleblind-like protein-like; Muscleblind-like protein-like 39 |
| Protein Family: | Muscleblind-like protein |
| UniProt Gene Name: | MBNL2 |
| UniProt Entry Name: | MBNL2_HUMAN |
