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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for MBNL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MBNL3_HUMAN, Q9NUK0 (See protein sequence)
Recommended Name: Muscleblind-like protein 3  
Size: 354 amino acids; 38532 Da
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


See MBNL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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  

MBNL3 Human Recombinant Protein Products:

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Novus Biologicals MBNL3 Proteins
Novus Biologicals MBNL3 Lysate
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Cloud-Clone Corp. Proteins for MBNL3

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Cloud-Clone Corp. CLIAs for MBNL3


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0044822poly(A) RNA binding IDA--
GO:0046872metal ion binding IEA--
     
MBNL3 for ontologies           About GeneDecksing


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

     3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mbnl3):
 behavior/neurological  muscle  no phenotypic analysis 

MBNL3 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBNL3
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
Products:
    
miRTarBase miRNAs that target MBNL3:
hsa-mir-155-5p (MIRT020645), hsa-mir-192-5p (MIRT026281)

Block miRNA regulation of human, mouse, rat MBNL3 using miScript Target Protectors
Selected qRT-PCR 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
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OriGene RNAi products in human, mouse, rat for MBNL3
Predesigned siRNA for gene silencing in human, mouse, rat MBNL3

Gene Editing
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GenScript: all cDNA clones in your preferred vector (see all 6): MBNL3 (NM_133486)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBNL3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBNL3

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBNL3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MBNL3_HUMAN, Q9NUK0: Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients,
colocalizes with nuclear foci of retained expanded-repeat transcripts
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
golgi apparatus4
extracellular2
cytoskeleton1
cytosol1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--
GO:0005737cytoplasm IEA--
GO:0005794Golgi apparatus ----
GO:0043231intracellular membrane-bounded organelle ----

MBNL3 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MBNL3
Interactions:

    GeneGlobe Interaction Network for MBNL3

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

Selected Interacting proteins for MBNL3 (ENSP000003598904) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
InteractantInteraction Details
GeneCardExternal ID(s)
JUNENSP000003602664STRING: ENSP00000360266
JUNDENSP000002528184STRING: ENSP00000252818
NR2F1ENSP000003258194STRING: ENSP00000325819
JUNBENSP000003033154STRING: ENSP00000303315
NFYCENSP000003966204STRING: ENSP00000396620
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Gene Ontology (GO): 5 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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:
     
Block miRNA regulation of human, mouse, rat MBNL3 using miScript Target Protectors
Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for MBNL3
Predesigned siRNA for gene silencing in human, mouse, rat MBNL3
Clone
Products:
     
OriGene clones in human, mouse for MBNL3 (see all 28)
OriGene ORF clones in mouse, rat for MBNL3
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
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for MBNL3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBNL3
  QuantiTect SYBR Green Assays in human, mouse, rat MBNL3
  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 

Selected AceView cDNA sequences (see all 80):

AK002178 AL133625 BE672100 BC042090 BE645190 BE645150 CD358081 BC074776 
BC074775 CK904794 AB077698 BM069866 BX392602 BX090088 AJ427918 AJ427919 
CR624180 BU170652 BX114035 AF467070 NM_133486 AF491305 AY072692 AU139230 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
 selected tissues (see all 6) 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
 
 Testis (Reproductive System)
         Testis Somatic Cells Primitive Gonad
 
 Thymus (Hematopoietic System)
         Thymus
 
 Lung (Respiratory System)
MBNL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MBNL3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.105134

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

    Custom PCR Arrays for MBNL3
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBNL3
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QuantiFast Probe-based Assays in human, mouse, rat MBNL3
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)
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This gene was present in the common ancestor of animals.

Orthologs for MBNL3 gene from Selected 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
muscleblind-like splicing regulator 3
68(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) 68.88(n)
71.47(a)
  567027  NM_001112675.1  NP_001106145.1 
fruit fly
(Drosophila melanogaster)
Insecta mbl1 muscleblind 51.22(n)
53.28(a)
  36945  NM_001274118.1  NP_001261047.1 
worm
(Caenorhabditis elegans)
Secernentea mbl-16
Protein MBL-1, isoform a (mbl-1) mRNA, complete cd...
24(a)
1 → many
X(17001728-17008361) WBGene00019347


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MBNL3 (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.)
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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)
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PubMed articles for MBNL3 gene, integrated from 10 sources (see all 17):
(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. (Dev. Biol. 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. (Hum. Mol. Genet. 2002)
  3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  4. Muscleblind proteins regulate alternative splicing. (PubMed id 15257297)1, 2 Ho T.H....Cooper T.A. (EMBO J. 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. (Genome Res. 2004)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (EMBO J. 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. (Mol. Vis. 2006)
  9. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PubMed id 19095965)1, 9 Holt I....Morris G.E. (Am. J. Pathol. 2009)
  10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 55796 HGNC: 20564 AceView: MBNL3 Ensembl:ENSG00000076770 euGenes: HUgn55796
ECgene: MBNL3 H-InvDB: MBNL3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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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