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

MBNL3 Gene

protein-coding   GIFtS: 50
GCID: GC0XM131506

Muscleblind-Like Splicing Regulator 3

(Previous name: muscleblind-like 3 (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 31 2     Muscleblind-Like 3 (Drosophila)1
MBXL2 3 5     MBLX2
Muscleblind-Like X-Linked Protein2 3     Muscleblind-Like 32
CHCR2 3     Muscleblind-Like Protein 32
MBLX392 3     Protein HCHCR3
Cys3His CCG1-Required Protein2 3     

External Ids:    HGNC: 205641   Entrez Gene: 557962   Ensembl: ENSG000000767707   OMIM: 3004135   UniProtKB: Q9NUK03   

Export aliases for MBNL3 gene to outside databases

Previous GC identifers: GC0XM128357 GC0XM129457 GC0XM130217 GC0XM131237 GC0XM131339 GC0XM120905


(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 MBNL3 Gene:
This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in
regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy.
Alternatively spliced transcript variants have been described. (provided by RefSeq, Dec 2009)

GeneCards Summary for MBNL3 Gene: 
MBNL3 (muscleblind-like splicing regulator 3) is a protein-coding gene. Diseases associated with MBNL3 include c3 deficiency, and myotonic dystrophy. GO annotations related to this gene include zinc ion binding and nucleic acid binding. An important paralog of this gene is MBNL1.

UniProtKB/Swiss-Prot: MBNL3_HUMAN, Q9NUK0
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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle
differentiation, acting at approximately the time of myogenin induction

Gene Wiki entry for MBNL3 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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBNL3 gene promoter:
         AML1a   POU3F2 (N-Oct-5a)   Nkx3-1 v1   c-Ets-1   E2F-1   POU2F1a   deltaCREB   HOXA5   IRF-7A   POU3F2 (N-Oct-5b)   POU3F2   Gfi-1   CREB   MZF-1   E2F   GATA-6   POU2F1   Chx10   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBNL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBNL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBNL3


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

Entrez Gene cytogenetic band: Xq26.2   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26.2

MBNL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBNL3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM131506:  view genomic region     (about GC identifiers)

Start:
131,503,342 bp from pter      End:
131,623,996 bp from pter
Size:
120,655 bases      Orientation:
minus 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: MBNL3_HUMAN, Q9NUK0 (See protein sequence)
Recommended Name: Muscleblind-like protein 3  
Size: 354 amino acids; 38532 Da
Subcellular location: Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients,
colocalizes with nuclear foci of retained expanded-repeat transcripts
Secondary accessions: Q5JXN8 Q5JXN9 Q5JXP4 Q6UDQ1 Q8IUR4 Q8TAD9 Q8TAF4 Q9H0Z7 Q9UF37
Alternative splicing: 5 isoforms:  Q9NUK0-1   Q9NUK0-2   Q9NUK0-3   Q9NUK0-4   Q9NUK0-5   

Explore the universe of human proteins at neXtProt for MBNL3: NX_Q9NUK0

Explore proteomics data for MBNL3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUK0

  • MBNL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBNL3 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001164172.1  NP_001164173.1  NP_001164174.1  NP_001164175.1  NP_060858.2  NP_597846.1  

    ENSEMBL proteins: 
     ENSP00000359894   ENSP00000359890   ENSP00000359886   ENSP00000359876   ENSP00000359881  
     ENSP00000412065   ENSP00000406014   ENSP00000402128   ENSP00000439618   ENSP00000377848  

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    Novus Biologicals MBNL3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MBNL3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    MBNL3 for ontologies           About GeneDecksing



    MBNL3 Antibody Products: 
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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 Q9NUK0

    ProtoNet protein and cluster: Q9NUK0

    1 Blocks protein domain: IPB000571 Zn-finger

    UniProtKB/Swiss-Prot: MBNL3_HUMAN, Q9NUK0
    Similarity: Belongs to the muscleblind family
    Similarity: Contains 4 C3H1-type zinc fingers


    MBNL3 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: MBNL3_HUMAN, Q9NUK0
    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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle
    differentiation, acting at approximately the time of myogenin induction

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    MBNL3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBNL3:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBNL3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MBNL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBNL3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBNL3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBNL3
    8/173 QIAGEN miScript miRNA Assays for microRNAs that regulate MBNL3 (see all 173):
    hsa-miR-193a-3p hsa-miR-520f hsa-miR-631 hsa-miR-106a hsa-miR-134 hsa-miR-519a hsa-miR-342-3p hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidMBNL3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL3


    (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 MBNL3

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0008380RNA splicing IEA--
    GO:0043484regulation of RNA splicing IDA15257297
    GO:0045662negative regulation of myoblast differentiation IEA--

    MBNL3 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 MBNL3

    Search CenterWatch for drugs/clinical trials and news about MBNL3

    (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 MBNL3 gene (6 alternative transcripts): 
    NM_001170701.1  NM_001170702.1  NM_001170703.1  NM_001170704.1  NM_018388.3  NM_133486.2  

    Unigene Cluster for MBNL3:

    Muscleblind-like splicing regulator 3
    Hs.105134  [show with all ESTs]
    Unigene Representative Sequence: NM_001170704
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370857 ENST00000370853 ENST00000370849 ENST00000370839(uc010nrl.1)
    ENST00000370844 ENST00000442191 ENST00000465964 ENST00000436215 ENST00000421707
    ENST00000473364 ENST00000538204(uc004ewt.3 uc004ewx.2) ENST00000394311(uc011muz.2 uc004ewu.4 uc004ewv.4 uc004eww.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBNL3
    8/173 QIAGEN miScript miRNA Assays for microRNAs that regulate MBNL3 (see all 173):
    hsa-miR-193a-3p hsa-miR-520f hsa-miR-631 hsa-miR-106a hsa-miR-134 hsa-miR-519a hsa-miR-342-3p hsa-miR-508-5p
    SwitchGear 3'UTR luciferase reporter plasmidMBNL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBNL3
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): MBNL3 (NM_133486)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBNL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBNL3
    Sirion Biotech Customized lentivirus for stable overexpression of MBNL3 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBNL3

    Additional mRNA sequence: 

    AB077698.1 AB077699.1 AF467070.1 AF491305.1 AJ427918.1 AJ427919.1 AK002178.1 AK300248.1 
    AK307194.1 AL133625.1 AY072692.1 AY372211.1 BC042090.1 BC074775.2 BC074776.2 CR627122.1 

    15 DOTS entries:

    DT.112991  DT.454672  DT.410158  DT.97839655  DT.99962398  DT.100785507  DT.100020998  DT.91835449 
    DT.99984513  DT.99966355  DT.95156460  DT.100785505  DT.40120756  DT.95091343  DT.40120755 

    24/80 AceView cDNA sequences (see all 80):

    BE645190 AU139230 AJ427919 AK002178 BC042090 AF491305 BE672100 BC074776 
    AY072692 BX392602 CR624180 BM069866 CD358081 AF467070 BE645150 NM_018388 
    BU170652 BX114035 AL133625 CK904794 NM_133486 AJ427918 AB077699 AB077698 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MBNL3 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for MBNL3

    (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

    MBNL3 expression in normal human tissues (normalized intensities)      MBNL3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MBNL3 Expression
    About this image


    MBNL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Testis Somatic Cells Primitive Gonad
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Placenta (Extraembryonic Tissues)
             placenta   

    See MBNL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBNL3

    SOURCE GeneReport for Unigene cluster: Hs.105134

    UniProtKB/Swiss-Prot: MBNL3_HUMAN, Q9NUK0
    Tissue specificity: Highly expressed in the placenta

        SABiosciences Custom PCR Arrays for MBNL3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL3

    (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 MBNL3 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbnl31 , 5 muscleblind-like 3 (Drosophila)1, 5 88.11(n)1
    84.21(a)1
      X (28.03 cM)5
    1711701  NM_134163.41  NP_598924.11 
     511172695 
    chicken
    (Gallus gallus)
    Aves MBNL31 muscleblind-like 3 (Drosophila) 80.48(n)
    78(a)
      422233  NM_001163338.1  NP_001156810.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBNL36
    Uncharacterized protein
    63(a)
    1 ↔ 1
    GL343780.1(131294-154560)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.191842 Transcribed sequence with weak similarity to protein more 84(n)    BX775087.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mbnl31 muscleblind-like 3 (Drosophila) 69.07(n)
    71.76(a)
      567027  NM_001112675.1  NP_001106145.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mbl6
    muscleblind
    14(a)
    possible ortholog
    2R(13104054-13266881)
    worm
    (Caenorhabditis elegans)
    Secernentea mbl-16
    Muscleblind-like protein
    25(a)
    possible ortholog
    X(17001728-17008361)


    ENSEMBL Gene Tree for MBNL3 (if available)
    TreeFam Gene Tree for MBNL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBNL3 gene
    MBNL12  MBNL22  
    4 SIMAP similar genes for MBNL3 using alignment to 5 protein entries:     MBNL3_HUMAN (see all proteins):
    MBLL    DKFZp686P06174    MBNL2    MBNL1

    MBNL3 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

    10/1342 SNPs in MBNL3 are shown (see all 1342)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1886486661,2
    --131503174(+) GTGATA/TGTTAG 6 -- ds50010--------
    rs1433172911,2
    C--131503225(+) AGCCCC/GAAATT 6 -- ds50010--------
    rs1813583371,2
    --131503454(+) ATTATC/TTCATA 6 -- ut310--------
    rs1859760181,2
    --131503491(+) ATTCAA/GTTCTT 6 -- ut310--------
    rs1906873181,2
    --131503590(+) TAATCA/GTCGTC 6 -- ut310--------
    rs10529981,2
    C,F,A,H--131503750(-) AGATTT/GATTTT 6 -- ut3116Minor allele frequency- G:0.41NS EA NA WA CSA 1984
    rs1836623991,2
    --131504020(+) AATCAA/GATAGT 6 -- ut310--------
    rs78921121,2
    C,F--131504022(+) TCAGAC/G/TAGTCT 12 -- ut313NA 142
    rs70611691,2
    H--131504136(+) TAAGGG/AAGTAG 6 -- ut314Minor allele frequency- A:0.00NS EA 420
    rs59753331,2
    C,F,H--131504234(+) GAATGT/CGTGTC 6 -- ut317Minor allele frequency- C:0.03NS EA NA 804

    HapMap Linkage Disequilibrium report for MBNL3 (131503342 - 131623996 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MBNL3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1771993CNV Insertion17803354
    esv26650CNV Loss19812545


    Locus Specific Mutation Databases (LSDB): MBNL3
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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: 300413    OMIM disorders: --

    2 diseases for MBNL3:    About MalaCards
    c3 deficiency    myotonic dystrophy

    2 diseases from the University of Copenhagen DISEASES database for MBNL3:
    Myotonic dystrophy     C3 deficiency

    MBNL3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MBNL3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 78.7 1 12915312 (1)


    Export disorders for MBNL3 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 MBNL3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MBNL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. (PubMed id 12297108)1, 2, 3, 9 Squillace R.M.... Wang E.H. (2002)
    2. 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, 9 Fardaei M.... Brook J.D. (2002)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. Muscleblind proteins regulate alternative splicing. (PubMed id 15257297)1, 2 Ho T.H....Cooper T.A. (2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. (PubMed id 10970838)1, 3 Miller J.W.... Swanson M.S. (2000)
    8. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. (PubMed id 17102799)1, 9 Self J.E....Lotery A.J. (2006)
    9. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PubMed id 19095965)1, 9 Holt I....Morris G.E. (2009)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (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: 55796 HGNC: 20564 AceView: MBNL3 Ensembl:ENSG00000076770 euGenes: HUgn55796
    ECgene: MBNL3 H-InvDB: MBNL3

    (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 MBNL3 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 MBNL3 gene:
    Search GeneIP for patents involving MBNL3

    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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