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Aliases for MBNL3 Gene

Aliases for MBNL3 Gene

  • Muscleblind Like Splicing Regulator 3 2 3 5
  • Muscleblind-Like X-Linked Protein 3 4
  • Cys3His CCG1-Required Protein 3 4
  • MBLX39 3 4
  • CHCR 3 4
  • MBXL 3 4
  • Muscleblind-Like Splicing Regulator 3 2
  • Muscleblind-Like 3 (Drosophila) 2
  • Muscleblind-Like Protein 3 3
  • Muscleblind-Like 3 3
  • Protein HCHCR 4
  • MBLX 3

External Ids for MBNL3 Gene

Previous GeneCards Identifiers for MBNL3 Gene

  • GC0XM128357
  • GC0XM129457
  • GC0XM130217
  • GC0XM131237
  • GC0XM131339
  • GC0XM131506
  • GC0XM120905

Summaries for MBNL3 Gene

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 Myotonic Dystrophy. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is MBNL1.

UniProtKB/Swiss-Prot for MBNL3 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. 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBNL3 Gene

Genomics for MBNL3 Gene

Regulatory Elements for MBNL3 Gene

Enhancers for MBNL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG132485 1.5 FANTOM5 ENCODE dbSUPER 4.2 +1.1 1137 6.1 FOXA2 FEZF1 ZNF2 YY1 GLIS2 FOS PPARG KAT8 CBX8 ETV4 RAP2C FRMD7 MBNL3 GC0XM132373
GH0XG132479 1.8 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +9.1 9127 2.8 PKNOX1 FOXA2 ARID4B FEZF1 YY1 SP3 JUNB ZNF518A GLIS1 ETV4 FRMD7 MBNL3 STK26 GC0XM132373
GH0XG132022 1.4 FANTOM5 ENCODE 1.3 +465.7 465731 4.3 ATF1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A BRCA1 GLIS2 SP3 GTF2B STK26 RAP2C MBNL3 FRMD7
GH0XG132482 1.4 Ensembl ENCODE dbSUPER 0.4 +6.2 6210 2.2 PKNOX1 FOXA2 MLX ZSCAN4 ARID4B RAD21 THRB RARA TCF12 GATA4 FRMD7 MBNL3 GC0XM132373
GH0XG132483 0.9 Ensembl dbSUPER 0.4 +7.5 7530 0.2 PKNOX1 FOXA2 ARID4B THRB KAT8 TCF12 ZGPAT HNF1A THAP11 RBFOX2 MBNL3 GC0XM132373
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MBNL3 on UCSC Golden Path with GeneCards custom track

Promoters for MBNL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248833 730 3001 FOXA2 ZNF2 YY1 GLIS2 FOS CBX8 NBN CTCF ZKSCAN1 ARID3A

Genomic Location for MBNL3 Gene

Chromosome:
X
Start:
132,369,314 bp from pter
End:
132,490,030 bp from pter
Size:
120,717 bases
Orientation:
Minus strand

Genomic View for MBNL3 Gene

Genes around MBNL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBNL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBNL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBNL3 Gene

Proteins for MBNL3 Gene

  • Protein details for MBNL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUK0-MBNL3_HUMAN
    Recommended name:
    Muscleblind-like protein 3
    Protein Accession:
    Q9NUK0
    Secondary Accessions:
    • Q5JXN8
    • Q5JXN9
    • Q5JXP4
    • Q6UDQ1
    • Q8IUR4
    • Q8TAD9
    • Q8TAF4
    • Q9H0Z7
    • Q9UF37

    Protein attributes for MBNL3 Gene

    Size:
    354 amino acids
    Molecular mass:
    38532 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MBNL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBNL3 Gene

Post-translational modifications for MBNL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MBNL3 Gene

Domains & Families for MBNL3 Gene

Gene Families for MBNL3 Gene

Protein Domains for MBNL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUK0

UniProtKB/Swiss-Prot:

MBNL3_HUMAN :
  • Belongs to the muscleblind family.
Family:
  • Belongs to the muscleblind family.
genes like me logo Genes that share domains with MBNL3: view

Function for MBNL3 Gene

Molecular function for MBNL3 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. 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) - Molecular Function for MBNL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBNL3: view
genes like me logo Genes that share phenotypes with MBNL3: view

Animal Model Products

miRNA for MBNL3 Gene

miRTarBase miRNAs that target MBNL3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MBNL3 Gene

Localization for MBNL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBNL3 Gene

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
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 MBNL3 gene
Compartment Confidence
nucleus 4
extracellular 2
golgi apparatus 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MBNL3 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 MBNL3: view

Pathways & Interactions for MBNL3 Gene

SuperPathways for MBNL3 Gene

No Data Available

Interacting Proteins for MBNL3 Gene

Gene Ontology (GO) - Biological Process for MBNL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0007275 multicellular organism development IEA --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IDA 15257297
GO:0045662 negative regulation of myoblast differentiation IEA --
genes like me logo Genes that share ontologies with MBNL3: view

No data available for Pathways by source and SIGNOR curated interactions for MBNL3 Gene

Drugs & Compounds for MBNL3 Gene

No Compound Related Data Available

Transcripts for MBNL3 Gene

Unigene Clusters for MBNL3 Gene

Muscleblind-like splicing regulator 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MBNL3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d
SP1: - - - -
SP2: - -
SP3: - - -
SP4:
SP5: -
SP6:
SP7: - -

Relevant External Links for MBNL3 Gene

GeneLoc Exon Structure for
MBNL3
ECgene alternative splicing isoforms for
MBNL3

Expression for MBNL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBNL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MBNL3 Gene

This gene is overexpressed in Liver (x6.1), Whole Blood (x5.7), and Heart - Atrial Appendage (x4.7).

Protein differential expression in normal tissues from HIPED for MBNL3 Gene

This gene is overexpressed in Heart (44.3) and Placenta (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MBNL3 Gene



Protein tissue co-expression partners for MBNL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MBNL3 Gene:

MBNL3

SOURCE GeneReport for Unigene cluster for MBNL3 Gene:

Hs.105134

mRNA Expression by UniProt/SwissProt for MBNL3 Gene:

Q9NUK0-MBNL3_HUMAN
Tissue specificity: Highly expressed in the placenta.

Evidence on tissue expression from TISSUES for MBNL3 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with MBNL3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MBNL3 Gene

Orthologs for MBNL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MBNL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBNL3 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia MBNL3 34 35
  • 91 (n)
mouse
(Mus musculus)
Mammalia Mbnl3 34 16 35
  • 88.11 (n)
cow
(Bos Taurus)
Mammalia MBNL3 34 35
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Mbnl3 34
  • 87.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MBNL3 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL3 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL3 34 35
  • 80.48 (n)
lizard
(Anolis carolinensis)
Reptilia MBNL3 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496456 34
  • 76.53 (n)
Str.19184 34
zebrafish
(Danio rerio)
Actinopterygii mbnl3 34 35
  • 68.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta mbl 34 35
  • 51.22 (n)
worm
(Caenorhabditis elegans)
Secernentea mbl-1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
Species where no ortholog for MBNL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 MBNL3 Gene

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

Paralogs for MBNL3 Gene

Paralogs for MBNL3 Gene

(4) SIMAP similar genes for MBNL3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MBNL3: view

Variants for MBNL3 Gene

Sequence variations from dbSNP and Humsavar for MBNL3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000002499 -- 132,473,640(+) AAAAA(A/C/T)CCATA intron-variant
rs1000095416 -- 132,473,156(+) GTTGA(C/T)CATGG intron-variant
rs1000138006 -- 132,380,540(+) AGCCC(A/G)TGTGT intron-variant
rs1000224097 -- 132,431,610(+) ATCCC(A/G)AGTTC intron-variant, nc-transcript-variant
rs1000287573 -- 132,443,129(+) AGTGC(A/G)TTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBNL3 Gene

Variant ID Type Subtype PubMed ID
esv1771993 CNV insertion 17803354
esv26650 CNV loss 19812545

Variation tolerance for MBNL3 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBNL3 Gene

Human Gene Mutation Database (HGMD)
MBNL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBNL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBNL3 Gene

Disorders for MBNL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MBNL3 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
- elite association - COSMIC cancer census association via MalaCards
Search MBNL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MBNL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBNL3
genes like me logo Genes that share disorders with MBNL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBNL3 Gene

Publications for MBNL3 Gene

  1. Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR. (PMID: 12297108) Squillace R.M. … Wang E.H. (Dev. Biol. 2002) 2 3 4 22 64
  2. 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) 3 4 22 64
  3. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. (PMID: 19095965) Holt I. … Morris G.E. (Am. J. Pathol. 2009) 3 22 64
  4. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. (PMID: 17102799) Self J.E. … Lotery A.J. (Mol. Vis. 2006) 3 22 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64

Products for MBNL3 Gene

Sources for MBNL3 Gene

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