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Aliases for MBNL2 Gene

Aliases for MBNL2 Gene

  • Muscleblind Like Splicing Regulator 2 2 3 5
  • Muscleblind-Like Protein-Like 39 3 4
  • Muscleblind-Like Protein 1 3 4
  • MBLL39 3 4
  • MBLL 3 4
  • Muscleblind-Like Splicing Regulator 2 2
  • Muscleblind-Like 2 (Drosophila) 2
  • Muscleblind-Like Protein-Like 4
  • Muscleblind-Like Protein 2 3
  • Muscleblind-Like 2 3
  • PRO2032 3
  • MLP1 4

External Ids for MBNL2 Gene

Previous GeneCards Identifiers for MBNL2 Gene

  • GC13P092261
  • GC13P096711
  • GC13P095572
  • GC13P096672
  • GC13P097873
  • GC13P078471

Summaries for MBNL2 Gene

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. An important paralog of this gene is MBNL3.

UniProtKB/Swiss-Prot for MBNL2 Gene

  • 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 5ACACCC-3 core sequence, termed zipcode, within the 3UTR 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

Additional gene information for MBNL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBNL2 Gene

Genomics for MBNL2 Gene

GeneHancer (GH) Regulatory Elements for MBNL2 Gene

Promoters and enhancers for MBNL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I097221 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.2 +83.0 83046 6.9 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B FOS MBNL2 OXGR1 GC13P097244 PIR38499 LINC00456
GH13I097252 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.1 +115.7 115684 10.4 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 NFYC MEF2D MBNL2 PIR46159 GC13P097243 LOC101927385
GH13I097140 Enhancer 1.4 Ensembl ENCODE dbSUPER 555.9 +0.2 237 3.6 FOXA2 MLX ARID4B ZNF2 FOS SP5 REST KAT8 MIER3 SMARCA4 MBNL2 LINC00456
GH13I097338 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +198.4 198400 3 MEIS2 SRF PKNOX1 CDC5L ZNF316 EGR1 POLR2A TARDBP IKZF1 HMBOX1 MBNL2 GC13M097275 GC13M097364 RNA5SP37
GH13I097272 Enhancer 1.4 Ensembl ENCODE dbSUPER 14.9 +135.4 135439 9.8 PKNOX1 FOXA2 MLX ARID4B FEZF1 DMAP1 ETS1 YY1 ZNF121 ATF7 MBNL2 LOC101927385 GC13P097243 PIR46159 GC13M097275
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MBNL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBNL2 gene promoter:

Genomic Locations for MBNL2 Gene

Genomic Locations for MBNL2 Gene
chr13:97,141,820-97,394,120
(GRCh38/hg38)
Size:
252,301 bases
Orientation:
Plus strand
chr13:97,873,688-98,046,374
(GRCh37/hg19)

Genomic View for MBNL2 Gene

Genes around MBNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBNL2 Gene

Proteins for MBNL2 Gene

  • Protein details for MBNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZF2-MBNL2_HUMAN
    Recommended name:
    Muscleblind-like protein 2
    Protein Accession:
    Q5VZF2
    Secondary Accessions:
    • Q3SXY5
    • Q58F19
    • Q8NEV3
    • Q8TD82

    Protein attributes for MBNL2 Gene

    Size:
    373 amino acids
    Molecular mass:
    40518 Da
    Quaternary structure:
    • Interacts with ITGA3.

    Three dimensional structures from OCA and Proteopedia for MBNL2 Gene

    Alternative splice isoforms for MBNL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBNL2 Gene

Post-translational modifications for MBNL2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MBNL2 Gene

Domains & Families for MBNL2 Gene

Gene Families for MBNL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MBNL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VZF2

UniProtKB/Swiss-Prot:

MBNL2_HUMAN :
  • Belongs to the muscleblind family.
Family:
  • Belongs to the muscleblind family.
genes like me logo Genes that share domains with MBNL2: view

Function for MBNL2 Gene

Molecular function for MBNL2 Gene

UniProtKB/Swiss-Prot 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 5ACACCC-3 core sequence, termed zipcode, within the 3UTR 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).

Phenotypes From GWAS Catalog for MBNL2 Gene

Gene Ontology (GO) - Molecular Function for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBNL2: view
genes like me logo Genes that share phenotypes with MBNL2: view

Animal Models for MBNL2 Gene

MGI Knock Outs for MBNL2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBNL2 Gene

Localization for MBNL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBNL2 Gene

Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts (PubMed:11929853).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBNL2 gene
Compartment Confidence
nucleus 5
peroxisome 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MBNL2: view

Pathways & Interactions for MBNL2 Gene

SuperPathways for MBNL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IDA 15257297
genes like me logo Genes that share ontologies with MBNL2: view

No data available for Pathways by source and SIGNOR curated interactions for MBNL2 Gene

Drugs & Compounds for MBNL2 Gene

No Compound Related Data Available

Transcripts for MBNL2 Gene

Unigene Clusters for MBNL2 Gene

Muscleblind-like splicing regulator 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBNL2 Gene

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: -
SP6: - -
SP7: - -

Relevant External Links for MBNL2 Gene

GeneLoc Exon Structure for
MBNL2
ECgene alternative splicing isoforms for
MBNL2

Expression for MBNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBNL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBNL2 Gene

This gene is overexpressed in Heart (30.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBNL2 Gene



Protein tissue co-expression partners for MBNL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MBNL2 Gene:

MBNL2

SOURCE GeneReport for Unigene cluster for MBNL2 Gene:

Hs.657347

mRNA Expression by UniProt/SwissProt for MBNL2 Gene:

Q5VZF2-MBNL2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for MBNL2 Gene

  • Nervous system(4.9)
  • Muscle(2.6)
  • Heart(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with MBNL2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBNL2 Gene

Orthologs for MBNL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBNL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBNL2 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia MBNL2 33 34
  • 94.19 (n)
cow
(Bos Taurus)
Mammalia MBNL2 33 34
  • 93.67 (n)
mouse
(Mus musculus)
Mammalia Mbnl2 33 16 34
  • 93.05 (n)
rat
(Rattus norvegicus)
Mammalia Mbnl2 33
  • 92.86 (n)
oppossum
(Monodelphis domestica)
Mammalia MBNL2 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL2 34
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL2 33 34
  • 87.56 (n)
lizard
(Anolis carolinensis)
Reptilia MBNL2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbnl2 33
  • 84.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29374 33
zebrafish
(Danio rerio)
Actinopterygii mbnl2 33 34
  • 74.74 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4628 33
fruit fly
(Drosophila melanogaster)
Insecta mbl 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 71 (a)
OneToMany
Species where no ortholog for MBNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBNL2 Gene

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

Paralogs for MBNL2 Gene

Paralogs for MBNL2 Gene

(3) SIMAP similar genes for MBNL2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MBNL2: view

Variants for MBNL2 Gene

Sequence variations from dbSNP and Humsavar for MBNL2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000000735 -- 97,141,693(+) T/C upstream_transcript_variant
rs1000027850 -- 97,364,402(+) A/T intron_variant
rs1000028168 -- 97,150,243(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000037784 -- 97,270,300(+) ATTAATT/ATT intron_variant
rs1000037822 -- 97,222,287(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MBNL2 Gene

Variant ID Type Subtype PubMed ID
esv2531977 CNV insertion 19546169
esv27915 CNV loss 19812545
esv3333582 CNV duplication 20981092
esv3398856 CNV duplication 20981092
esv3633288 CNV loss 21293372
esv3633290 CNV loss 21293372
esv994781 CNV gain 20482838
nsv1038798 CNV gain 25217958
nsv1045777 CNV gain 25217958
nsv1138 CNV insertion 18451855
nsv1145690 CNV deletion 24896259
nsv513393 CNV insertion 21212237
nsv7246 OTHER inversion 18451855
nsv832694 CNV gain 17160897

Variation tolerance for MBNL2 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBNL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBNL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBNL2 Gene

Disorders for MBNL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MBNL2 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
- elite association - COSMIC cancer census association via MalaCards
Search MBNL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MBNL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MBNL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBNL2 Gene

Publications for MBNL2 Gene

  1. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. (PMID: 11929853) Fardaei M … Brook JD (Human molecular genetics 2002) 2 3 4 22 58
  2. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. (PMID: 21529783) Heath AC … Montgomery GW (Biological psychiatry 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PMID: 19095965) Holt I … Morris GE (The American journal of pathology 2009) 3 22 58
  5. Solution structure of the RNA binding domain in the human muscleblind-like protein 2. (PMID: 19177353) He F … Yokoyama S (Protein science : a publication of the Protein Society 2009) 3 4 58

Products for MBNL2 Gene

Sources for MBNL2 Gene

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