Version 5.4
Mus musculus Protein: Mbnl2
Summary
InnateDB Protein IDBP-620590.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mbnl2
Protein Name muscleblind-like 2
Synonyms 1110002M11Rik; AI047808; AI837313; AI849185; AL118326; MBLL; mKIAA4072; R75232;
Species Mus musculus
Ensembl Protein ENSMUSP00000126186
InnateDB Gene IDBG-187361 (Mbnl2)
Protein Structure
UniProt Annotation
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) (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques. Location in the cytoplasm is microtubule-dependent (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0046872 metal ion binding
Biological Process
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0043484 regulation of RNA splicing
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID MGI:2145597
InterPro IPR000571 Zinc finger, CCCH-type
PFAM PF00642
PRINTS
PIRSF
SMART SM00356
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8C181
PhosphoSite PhosphoSite-Q8C181
TrEMBL
UniProt Splice Variant
Entrez Gene 105559
UniGene Mm.490621
RefSeq NP_997398
MGI ID
MGI Symbol Mbnl2
OMIM
CCDS CCDS49568
HPRD
IMGT
EMBL AK028797 AK085709 AK151913 AK151926 AK151957 AK159213 AK164372 AK167479 AK220470 BC075665
GenPept AAH75665 BAC26125 BAC39515 BAD90497 BAE30793 BAE30803 BAE30829 BAE34902 BAE37762 BAE39560

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca