Version 5.4
Homo sapiens Gene: MBNL2
Summary
InnateDB Gene IDBG-43799.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBNL2
Gene Name muscleblind-like splicing regulator 2
Synonyms MBLL; MBLL39; PRO2032
Species Homo sapiens
Ensembl Gene ENSG00000139793
Encoded Proteins
IDBP-43803
muscleblind-like 2 (Drosophila)
IDBP-43807
muscleblind-like 2 (Drosophila)
IDBP-43809
muscleblind-like 2 (Drosophila)
IDBP-234995
muscleblind-like 2 (Drosophila)
IDBP-372063
muscleblind-like 2 (Drosophila)
IDBP-600943
muscleblind-like 2 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:97221434-97394120
Strand Forward strand
Band q32.1
Transcripts
ENST00000343600 ENSP00000344214
ENST00000345429 ENSP00000267287
ENST00000376673 ENSP00000365861
ENST00000397601 ENSP00000380726
ENST00000449284 ENSP00000404202
ENST00000469707 ENSP00000432422
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0044822 poly(A) 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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022139
View Gene Order
ENSBTAG00000018313
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.657347 Hs.705922
RefSeq NM_144778 NM_207304 XM_005254020
HUGO
OMIM
CCDS CCDS9483 CCDS9484
HPRD 09543
IMGT
EMBL
GenPept
RNA Seq Atlas

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