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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBNL2 Gene

protein-coding   GIFtS: 54
GCID: GC13P097873

Muscleblind-Like Splicing Regulator 2

(Previous name: muscleblind-like 2 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Muscleblind-Like Splicing Regulator 21 2     PRO20322
Muscleblind-Like Protein 12 3     Muscleblind-Like 22
Muscleblind-Like Protein-Like 392 3     Muscleblind-Like Protein 22
MBLL2 3     MLP13
MBLL392 3     Muscleblind-Like Protein-Like3
Muscleblind-Like 2 (Drosophila)1     

External Ids:    HGNC: 167461   Entrez Gene: 101502   Ensembl: ENSG000001397937   OMIM: 6073275   UniProtKB: Q5VZF23   

Export aliases for MBNL2 gene to outside databases

Previous GC identifers: GC13P092261 GC13P096711 GC13P095572 GC13P096672 GC13P078471


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBNL2 Gene:
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)

GeneCards Summary for MBNL2 Gene: 
MBNL2 (muscleblind-like splicing regulator 2) is a protein-coding gene. Diseases associated with MBNL2 include myotonic dystrophy, and bipolar disorder. GO annotations related to this gene include RNA binding and zinc ion binding. An important paralog of this gene is MBNL3.

UniProtKB/Swiss-Prot: MBNL2_HUMAN, Q5VZF2
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)

Gene Wiki entry for MBNL2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_009952.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBNL2 gene promoter:
         NF-1   HOXA3   FOXF2   Roaz   SRY   Nkx6-1   deltaCREB   FOXO4   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBNL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBNL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBNL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q32.1   Ensembl cytogenetic band:  13q32.1   HGNC cytogenetic band: 13q31.1

MBNL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBNL2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P097873:  view genomic region     (about GC identifiers)

Start:
97,873,688 bp from pter      End:
98,046,374 bp from pter
Size:
172,687 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MBNL2_HUMAN, Q5VZF2 (See protein sequence)
Recommended Name: Muscleblind-like protein 2  
Size: 373 amino acids; 40518 Da
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
2 PDB 3D structures from and Proteopedia for MBNL2:
2E5S (3D)        2RPP (3D)    
Secondary accessions: Q3SXY5 Q58F19 Q8NEV3 Q8TD82
Alternative splicing: 3 isoforms:  Q5VZF2-1   Q5VZF2-2   Q5VZF2-3   

Explore the universe of human proteins at neXtProt for MBNL2: NX_Q5VZF2

Explore proteomics data for MBNL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VZF2

  • MBNL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBNL2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_659002.1  NP_997187.1  

    ENSEMBL proteins: 
     ENSP00000380726   ENSP00000432422   ENSP00000267287   ENSP00000404202   ENSP00000344214  
     ENSP00000365861   ENSP00000406842  

    Human Recombinant Protein Products for MBNL2: 
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    Novus Biologicals MBNL2 Proteins
    Novus Biologicals MBNL2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBNL2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    MBNL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZC3H: Zinc fingers, CCCH-type domain containing

    1 InterPro protein domain:
     IPR000571 Znf_CCCH

    Graphical View of Domain Structure for InterPro Entry Q5VZF2

    ProtoNet protein and cluster: Q5VZF2

    1 Blocks protein domain: IPB000571 Zn-finger

    UniProtKB/Swiss-Prot: MBNL2_HUMAN, Q5VZF2
    Similarity: Belongs to the muscleblind family
    Similarity: Contains 4 C3H1-type zinc fingers


    MBNL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBNL2_HUMAN, Q5VZF2
    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)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    MBNL2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mbnl2):
     muscle  skeleton 

    MBNL2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBNL2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MBNL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBNL2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBNL2 

    miRNA
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    miRTarBase miRNAs that target MBNL2:
    hsa-mir-372 (MIRT000059), hsa-mir-218 (MIRT001057), hsa-mir-302d (MIRT000093)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBNL2
    8/105 QIAGEN miScript miRNA Assays for microRNAs that regulate MBNL2 (see all 105):
    hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-30d hsa-miR-374a hsa-miR-30a hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidMBNL2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBNL2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for MBNL2 (ENSP000002672874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IEA--
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--
    GO:0043484regulation of RNA splicing IDA15257297

    MBNL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MBNL2

    Search CenterWatch for drugs/clinical trials and news about MBNL2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MBNL2 gene (2 alternative transcripts): 
    NM_144778.3  NM_207304.2  

    Unigene Cluster for MBNL2:

    Muscleblind-like splicing regulator 2
    Hs.657347  [show with all ESTs]
    Unigene Representative Sequence: NM_144778
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397601(uc010tij.2) ENST00000469707(uc001vnc.3) ENST00000345429(uc001vmz.3 uc001vnb.3)
    ENST00000449284 ENST00000343600(uc001vna.3) ENST00000376673(uc010aft.3)
    ENST00000445661
    miRNA
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    hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-15a hsa-miR-30d hsa-miR-374a hsa-miR-30a hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidMBNL2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): MBNL2 (NM_207304)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBNL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBNL2
    Sirion Biotech Customized lentivirus for stable overexpression of MBNL2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBNL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBNL2

    Additional mRNA sequence: 

    AF061261.1 AF339782.1 AF339832.1 AF491866.1 AK291727.1 AK304699.1 AK315844.1 AY101770.1 
    BC020418.1 BC020430.1 BC032426.1 BC069699.1 BC069717.1 BC104038.1 BC104039.1 BC104040.1 
    CR749802.1 

    16 DOTS entries:

    DT.95317272  DT.206434  DT.65284539  DT.100866241  DT.205393  DT.309542  DT.91752597  DT.120771264 
    DT.91752594  DT.100655621  DT.40225975  DT.100655622  DT.120771220  DT.120771268  DT.120771284  DT.120771300 

    24/322 AceView cDNA sequences (see all 322):

    AI623614 BM512332 BX390775 AW028578 AA019369 BQ722573 AI400384 AA576514 
    BM849477 CR603511 AA688280 BQ025135 AA287121 CA437360 AA654234 AA847878 
    CB143561 BE350109 AW136596 BM271825 AW771424 AA282765 CB410234 BX379993 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MBNL2 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
    SP1:                                                                                                                  
    SP2:                                                                    -                                             
    SP3:                                                                    -           -     -                           
    SP4:                                                                                                                  
    SP5:                                                                                -                                 


    ECgene alternative splicing isoforms for MBNL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MBNL2 expression in normal human tissues (normalized intensities)      MBNL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATATCAG
    MBNL2 Expression
    About this image


    MBNL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Heart (Cardiovascular System)
             DKK1-induced cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Umbilical Cord (Extraembryonic Tissues)
             Wharton's jelly-derived stem cells

    See MBNL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBNL2

    SOURCE GeneReport for Unigene cluster: Hs.657347

    UniProtKB/Swiss-Prot: MBNL2_HUMAN, Q5VZF2
    Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBNL2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MBNL2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbnl21 , 5 muscleblind-like 21, 5 93.05(n)1
    97.75(a)1
      14 (64.44 cM)5
    1055591  NM_175341.41  NP_780550.11 
     1202756695 
    chicken
    (Gallus gallus)
    Aves MBNL21 muscleblind-like 2 (Drosophila) 87.56(n)
    96.46(a)
      418784  NM_001081700.2  NP_001075169.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBNL26
    muscleblind-like splicing regulator 2
    88(a)
    1 ↔ 1
    3(85976104-86043636)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.293742 Xenopus laevis cDNA clone IMAGE6875640, partial cds 78.25(n)    BC054980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mbnl21 muscleblind-like 2 (Drosophila) 74.74(n)
    85.35(a)
      560384  NM_001161670.1  NP_001155142.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mbl6
    muscleblind
    16(a)
    possible ortholog
    2R(13104054-13266881)
    worm
    (Caenorhabditis elegans)
    Secernentea mbl-16
    Muscleblind-like protein
    27(a)
    possible ortholog
    X(17001728-17008361)


    ENSEMBL Gene Tree for MBNL2 (if available)
    TreeFam Gene Tree for MBNL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBNL2 gene
    MBNL32  MBNL12  
    3 SIMAP similar genes for MBNL2 using alignment to 5 protein entries:     MBNL2_HUMAN (see all proteins):
    MBLL    MBNL1    MBNL3

    MBNL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3292 SNPs in MBNL2 are shown (see all 3292)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs576346441,2
    C--78473589(+) AAAAA-/A/AA  
            
    GTTGT
    2 -- int11NA 2
    rs79858851,2
    A--78481821(+) gtgtgC/TgCGCA 2 -- int10--------
    rs38399971,2
    C--78799226(+) ACTCA-/TTTA  
            
    AATAA
    2 -- int10--------
    rs1393940891,2
    C--97872585(+) AAAGCA/GTCTGG 2 -- us2k10--------
    rs1900544801,2
    --97872771(+) GTTGAA/GAGGGA 2 -- us2k10--------
    rs1824187761,2
    --97872876(+) AAAAAA/CCCCGT 2 -- us2k10--------
    rs14107551,2
    C,F,O,A,H--97872879(+) AAACCC/TGTCTG 2 -- us2k122Minor allele frequency- T:0.48NA EA NS 3041
    rs1425226121,2
    C--97872906(+) AAGAT-/GAGGAGG 2 -- us2k10--------
    rs38093601,2
    C,F,H--97873019(+) TGGTTG/CAGAAT 2 -- us2k15Minor allele frequency- C:0.03NS EA 536
    rs1426765601,2
    --97873022(+) TTGAGA/GATGGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MBNL2 (97873688 - 98046374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MBNL2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1138CNV Insertion18451855
    esv2531977CNV Insertion19546169
    nsv513393CNV Insertion21212237
    esv27915CNV Loss19812545
    esv994781CNV Gain20482838
    nsv832694CNV Gain17160897
    nsv7246OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607327    OMIM disorders: --

    4 diseases for MBNL2:    About MalaCards
    myotonic dystrophy    bipolar disorder    alcoholism    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for MBNL2:
    Myotonic dystrophy

    MBNL2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MBNL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 80.1 2 12915312 (1), 19095965 (1)

    Genetic Association Database (GAD): MBNL2
    Human Genome Epidemiology (HuGE) Navigator: MBNL2 (1 document)

    Export disorders for MBNL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MBNL2 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with MBNL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. (PubMed id 11929853)1, 2, 3, 9 Fardaei M.... Brook J.D. (2002)
    2. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. (PubMed id 21529783)1, 4 Heath A.C....Montgomery G.W. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Solution structure of the RNA binding domain in the human muscleblind-like protein 2. (PubMed id 19177353)1, 2 He F....Yokoyama S. (2009)
    5. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. (PubMed id 16946708)1, 2 Paul S....Reddy S. (2006)
    6. RNA-dependent integrin alpha3 protein localization regulated by the muscleblind-like protein MLP1. (PubMed id 16273094)1, 2 Adereth Y.... Hsu T. (2005)
    7. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    8. Muscleblind proteins regulate alternative splicing. (PubMed id 15257297)1, 2 Ho T.H....Cooper T.A. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PubMed id 19095965)1, 9 Holt I....Morris G.E. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10150 HGNC: 16746 AceView: MBNL2 Ensembl:ENSG00000139793 euGenes: HUgn10150
    ECgene: MBNL2 H-InvDB: MBNL2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MBNL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBNL2 gene:
    Search GeneIP for patents involving MBNL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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