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Aliases for MBNL2 Gene

Aliases for MBNL2 Gene

  • Muscleblind-Like Splicing Regulator 2 2 3
  • Muscleblind-Like Protein-Like 39 3 4
  • Muscleblind-Like Protein 1 3 4
  • MBLL39 3 4
  • MBLL 3 4
  • 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

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. GO annotations related to this gene include RNA binding. An important paralog of this gene is MBNL1.

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

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

Genomics for MBNL2 Gene

Genomic Location for MBNL2 Gene

Start:
97,221,434 bp from pter
End:
97,394,120 bp from pter
Size:
172,687 bases
Orientation:
Plus strand

Genomic View for MBNL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MBNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBNL2 Gene

Regulatory Elements 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

Proteomics data for MBNL2 Gene at MOPED

Post-translational modifications for MBNL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBNL2 Gene

No data available for DME Specific Peptides for MBNL2 Gene

Domains for MBNL2 Gene

Gene Families for MBNL2 Gene

HGNC:
  • ZC3H :Zinc fingers, CCCH-type domain containing

Protein Domains for MBNL2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

MBNL2_HUMAN
Family:
  • Belongs to the muscleblind family.:
    • Q5VZF2
Similarity:
  • Contains 4 C3H1-type zinc fingers.:
    • Q5VZF2
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).

Gene Ontology (GO) - Molecular Function for MBNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBNL2: view

Phenotypes for MBNL2 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Location in the cytoplasm is microtubule-dependent. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBNL2 Gene COMPARTMENTS Subcellular localization image for MBNL2 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MBNL2 Gene

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

Pathways for MBNL2 Gene

SuperPathways for MBNL2 Gene

No Data Available

Interacting Proteins for MBNL2 Gene

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 for MBNL2 Gene

Transcripts for MBNL2 Gene

Unigene Clusters for MBNL2 Gene

Muscleblind-like splicing regulator 2:
Representative Sequences:

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 for MBNL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MBNL2 Gene

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.
genes like me logo Genes that share expressions with MBNL2: view

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 36
  • 99.9 (n)
  • 100 (a)
MBNL2 37
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBNL2 36
  • 93.67 (n)
  • 97.2 (a)
MBNL2 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBNL2 36
  • 94.19 (n)
  • 98.91 (a)
MBNL2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbnl2 36
  • 93.05 (n)
  • 97.75 (a)
Mbnl2 16
Mbnl2 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBNL2 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL2 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbnl2 36
  • 92.86 (n)
  • 97.75 (a)
chicken
(Gallus gallus)
Aves MBNL2 36
  • 87.56 (n)
  • 96.46 (a)
MBNL2 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBNL2 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29374 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mbnl2 36
  • 84.63 (n)
  • 95.59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4628 36
zebrafish
(Danio rerio)
Actinopterygii mbnl2 36
  • 74.74 (n)
  • 85.35 (a)
mbnl2 37
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mbl 37
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 37
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 71 (a)
OneToMany
Species with no ortholog for MBNL2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs15004 -- 97,393,892(-) GTGAA(A/T)TGTAG utr-variant-3-prime
rs875104 -- 97,343,748(+) TAGTT(C/G)TGATT intron-variant
rs877671 -- 97,308,751(+) AAGCC(G/T)TCACT intron-variant
rs937379 -- 97,309,951(-) CATTA(C/T)AGATA intron-variant
rs949741 -- 97,313,526(-) ACTTC(G/T)GCCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7246 OTHER Inversion 18451855
nsv832694 CNV Gain 17160897
esv994781 CNV Gain 20482838
esv2531977 CNV Insertion 19546169
nsv1138 CNV Insertion 18451855
nsv513393 CNV Insertion 21212237
esv27915 CNV Loss 19812545

Relevant External Links for MBNL2 Gene

HapMap Linkage Disequilibrium report
MBNL2

Disorders for MBNL2 Gene

(1) University of Copenhagen DISEASES for MBNL2 Gene

(1) Novoseek inferred disease relationships for MBNL2 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 80.1 2

Relevant External Links for MBNL2

Genetic Association Database (GAD)
MBNL2
Human Genome Epidemiology (HuGE) Navigator
MBNL2
genes like me logo Genes that share disorders with MBNL2: view

No data available for UniProtKB/Swiss-Prot 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 J.D. (Hum. Mol. Genet. 2002) 2 3 4 23
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  3. Muscleblind proteins regulate alternative splicing. (PMID: 15257297) Ho T.H. … Cooper T.A. (EMBO J. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. RNA-dependent integrin alpha3 protein localization regulated by the muscleblind-like protein MLP1. (PMID: 16273094) Adereth Y. … Hsu T. (Nat. Cell Biol. 2005) 3 4

Products for MBNL2 Gene

Sources for MBNL2 Gene

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