Human Gene MBNL2 (uc001vnc.3) Description and Page Index
  Description: Homo sapiens muscleblind-like splicing regulator 2 (MBNL2), transcript variant 3, mRNA.
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].
Transcript (Including UTRs)
   Position: hg19 chr13:97,999,295-98,011,528 Size: 12,234 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr13:97,999,319-98,009,993 Size: 10,675 Coding Exon Count: 2 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:97,999,295-98,011,528)mRNA (may differ from genome)Protein (86 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsHGNC
LynxMGIPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MBNL2
CDC HuGE Published Literature: MBNL2
Positive Disease Associations: Alcoholism , Apolipoproteins B , Cholesterol , E-Selectin , Vitamin K
Related Studies:
  1. Alcoholism
    Andrew C Heath et al. Biological psychiatry 2011, A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications., Biological psychiatry. [PubMed 21529783]
    We conclude that 1) meta-analyses of consumption data may contribute usefully to gene discovery; 2) translation of human alcoholism GWAS results to drug discovery or clinically useful prediction of risk will be challenging; and 3) through accumulation across studies, GWAS data may become valuable for improved genetic risk differentiation in research in biological psychiatry (e.g., prospective high-risk or resilience studies).
  2. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.9024-0.412 Picture PostScript Text
3' UTR -310.211535-0.202 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
  ModBase Predicted Comparative 3D Structure on Q9P1F2
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  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.
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.
BC020430 - Homo sapiens muscleblind-like 2 (Drosophila), mRNA (cDNA clone IMAGE:4499055).
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.

-  Other Names for This Gene
  Alternate Gene Symbols: AF339832, Q9P1F2, Q9P1F2_HUMAN
UCSC ID: uc001vnc.3
RefSeq Accession: NM_207304
Protein: Q9P1F2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF339832.1
exon count: 2CDS single in 3' UTR: no RNA size: 1831
ORF size: 261CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 722.00frame shift in genome: no % Coverage: 99.07
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 1639# strange splices: 0
Click here for a detailed description of the fields of the table above.

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