Human Gene MBNL2 (ENST00000397601.5) Description and Page Index
  Description: 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). (from UniProt Q5VZF2)
RefSeq Summary (NM_207304): 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: ENST00000397601.5
Gencode Gene: ENSG00000139793.18
Transcript (Including UTRs)
   Position: hg38 chr13:97,221,434-97,394,120 Size: 172,687 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr13:97,276,236-97,391,449 Size: 115,214 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:97,221,434-97,394,120)mRNA (may differ from genome)Protein (361 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2neXtProtPubMedStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  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.

-  MalaCards Disease Associations
  MalaCards Gene Search: MBNL2
Diseases sorted by gene-association score: myotonic dystrophy (13)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.35 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 924.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -157.20730-0.215 Picture PostScript Text
3' UTR -523.102671-0.196 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000571 - Znf_CCCH

Pfam Domains:
PF00642 - Zinc finger C-x8-C-x5-C-x3-H type (and similar)

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2E5S
- NMR MuPIT

2RPP
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q5VZF2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  CR749802 - Homo sapiens mRNA; cDNA DKFZp781H1296 (from clone DKFZp781H1296).
AK291727 - Homo sapiens cDNA FLJ76890 complete cds, highly similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA.
AF061261 - Homo sapiens zinc finger protein (MBLL) mRNA, complete cds.
AF491866 - Homo sapiens muscleblind-like protein MLP1 (MBLL) mRNA, complete cds.
BC032426 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone IMAGE:5247431), partial cds.
BC104038 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone MGC:120625 IMAGE:40026585), complete cds.
BC104039 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone MGC:120626 IMAGE:40026586), complete cds.
BC104040 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone MGC:120628 IMAGE:40026588), complete cds.
AK315844 - Homo sapiens cDNA, FLJ79493 complete cds, highly similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA.
BC020418 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone IMAGE:4157895), partial cds.
AY101770 - Homo sapiens muscleblind-like protein MBLL39 mRNA, complete cds.
AK304699 - Homo sapiens cDNA FLJ57455 complete cds, moderately similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA.
AF116683 - Homo sapiens PRO2032 mRNA, complete cds.
JD046975 - Sequence 27999 from Patent EP1572962.
JD267283 - Sequence 248307 from Patent EP1572962.
BC020430 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone IMAGE:4499055).
JD260578 - Sequence 241602 from Patent EP1572962.
JD173760 - Sequence 154784 from Patent EP1572962.
JD367103 - Sequence 348127 from Patent EP1572962.
JD376382 - Sequence 357406 from Patent EP1572962.
JD053014 - Sequence 34038 from Patent EP1572962.
JD091946 - Sequence 72970 from Patent EP1572962.
JD562733 - Sequence 543757 from Patent EP1572962.
EU446757 - Synthetic construct Homo sapiens clone IMAGE:100069997; IMAGE:100011966; FLH257165.01L muscleblind-like 2 (Drosophila) (MBNL2) gene, encodes complete protein.
KJ892938 - Synthetic construct Homo sapiens clone ccsbBroadEn_02332 MBNL2 gene, encodes complete protein.
AF339832 - Homo sapiens clone IMAGE:713177, mRNA sequence.
JD135481 - Sequence 116505 from Patent EP1572962.
JD379426 - Sequence 360450 from Patent EP1572962.
JD106523 - Sequence 87547 from Patent EP1572962.
JD431452 - Sequence 412476 from Patent EP1572962.
JD141348 - Sequence 122372 from Patent EP1572962.
JD288759 - Sequence 269783 from Patent EP1572962.
JD110593 - Sequence 91617 from Patent EP1572962.
JD307814 - Sequence 288838 from Patent EP1572962.
JD362485 - Sequence 343509 from Patent EP1572962.
JD312466 - Sequence 293490 from Patent EP1572962.
JD347602 - Sequence 328626 from Patent EP1572962.
JD233818 - Sequence 214842 from Patent EP1572962.
JD172655 - Sequence 153679 from Patent EP1572962.
JD073837 - Sequence 54861 from Patent EP1572962.
JD178172 - Sequence 159196 from Patent EP1572962.
AF339782 - Homo sapiens clone IMAGE:1871856, mRNA sequence.
JD137070 - Sequence 118094 from Patent EP1572962.
JD296319 - Sequence 277343 from Patent EP1572962.
JD504291 - Sequence 485315 from Patent EP1572962.
JD051822 - Sequence 32846 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CR749802, MBLL, MBLL39, MBNL2_HUMAN, MLP1, Q3SXY5, Q58F19, Q5VZF2, Q8NEV3, Q8TD82, uc058xva.1
UCSC ID: uc058xva.1
RefSeq Accession: NM_207304
Protein: Q5VZF2 (aka MBNL2_HUMAN)
CCDS: CCDS9483.1, CCDS76644.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.