Human Gene MBNL2 (ENST00000345429.10) Description and Page Index
Description: Homo sapiens muscleblind like splicing regulator 2 (MBNL2), transcript variant 1, mRNA. (from RefSeq NM_144778) RefSeq Summary (NM_144778): 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]. Gencode Transcript: ENST00000345429.10 Gencode Gene: ENSG00000139793.18 Transcript (Including UTRs) Position: hg38 chr13:97,222,355-97,394,120 Size: 171,766 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr13:97,276,236-97,391,336 Size: 115,101 Coding Exon Count: 8
ID:MBNL2_HUMAN DESCRIPTION: RecName: Full=Muscleblind-like protein 2; AltName: Full=Muscleblind-like protein 1; AltName: Full=Muscleblind-like protein-like; AltName: Full=Muscleblind-like protein-like 39; FUNCTION: 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). SUBUNIT: Interacts with ITGA3. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques. Location in the cytoplasm is microtubule-dependent. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts. TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. SIMILARITY: Belongs to the muscleblind family. SIMILARITY: Contains 4 C3H1-type zinc fingers.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q5VZF2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.