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] See more...

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
  • Muscleblind-Like Protein 3 3 4
  • MBLX39 3 4
  • CHCR 3 4
  • MBXL 3 4
  • Muscleblind-Like Splicing Regulator 3 2
  • Muscleblind-Like 3 (Drosophila) 2
  • 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 and Myoclonic Cerebellar Dyssynergia. An important paralog of this gene is MBNL1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MBNL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBNL3 Gene

Genomics for MBNL3 Gene

GeneHancer (GH) Regulatory Elements for MBNL3 Gene

Promoters and enhancers for MBNL3 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
GH0XJ132485 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 504.1 +1.1 1136 6.1 CTCF ZSCAN5C SIN3A POLR2G ZFX POLR2A CLOCK FOXA1 ZBTB26 RFX1 MBNL3 RAP2C FRMD7 RF00017-8714
GH0XJ132411 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.2 +77.4 77395 3.1 CTCF POLR2G TEAD4 KDM6A TCF7 SKI TEAD1 HDAC2 FOXA2 CEBPB MBNL3 RF00017-8714 RAP2C-AS1
GH0XJ132479 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 2.4 +9.1 9127 2.8 POLR2G NCOR1 MEF2C SKI POLR2A ZNF341 FOXA2 OSR2 TCF12 WT1 FRMD7 MBNL3 STK26 RF00017-8714
GH0XJ132022 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.3 +465.8 465829 4.8 HNRNPK CTCF ZSCAN5C NRF1 POLR2G USF1 GTF2E2 ZFX ZNF10 ZIC2 STK26 lnc-FRMD7-4 RAP2C MBNL3 lnc-STK26-6
GH0XJ132506 Enhancer 0.2 Ensembl 4 -16.2 -16171 0.4 MBNL3 piR-39701-074
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBNL3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBNL3

Top Transcription factor binding sites by QIAGEN in the MBNL3 gene promoter:
  • AML1a
  • c-Ets-1
  • Chx10
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • GATA-6
  • Gfi-1
  • HOXA5
  • IRF-7A
  • MZF-1
  • Nkx3-1 v1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • TGIF

Genomic Locations for MBNL3 Gene

Genomic Locations for MBNL3 Gene
chrX:132,369,314-132,490,030
(GRCh38/hg38)
Size:
120,717 bases
Orientation:
Minus strand
chrX:131,503,342-131,623,996
(GRCh37/hg19)
Size:
120,655 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

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

Protein Domains for MBNL3 Gene

Blocks:
  • Zn-finger, C-x8-C-x5-C-x3-H type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBNL3 Gene

GenScript: Design optimal peptide antigens:
  • Muscleblind-like 3 (Drosophila) (B1AKI2_HUMAN)
  • Protein HCHCR (MBNL3_HUMAN)
  • cDNA FLJ56670, highly similar to Muscleblind-like X-linked protein (Q8IUR4_HUMAN)

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.

Phenotypes From GWAS Catalog for MBNL3 Gene

Gene Ontology (GO) - Molecular Function for MBNL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
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

miRNA for MBNL3 Gene

miRTarBase miRNAs that target MBNL3

Clone Products

  • Addgene plasmids for 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
cytoskeleton 2
plasma membrane 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBNL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with MBNL3: view

Pathways & Interactions for MBNL3 Gene

PathCards logo

SuperPathways for MBNL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MBNL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0007275 multicellular organism development IEA --
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IDA 15257297
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

mRNA/cDNA for MBNL3 Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for MBNL3

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

Expression for MBNL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MBNL3 Gene



Protein tissue co-expression partners for MBNL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MBNL3 31 30
  • 91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mbnl3 17 31 30
  • 88.11 (n)
cow
(Bos Taurus)
Mammalia MBNL3 31 30
  • 87.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbnl3 30
  • 87.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MBNL3 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBNL3 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBNL3 31 30
  • 80.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBNL3 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496456 30
  • 76.53 (n)
Str.19184 30
zebrafish
(Danio rerio)
Actinopterygii mbnl3 31 30
  • 68.88 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mbl 31 30
  • 51.22 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mbl-1 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MBNL3: view image

Paralogs for MBNL3 Gene

Paralogs for MBNL3 Gene

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

  • MBNL3_HUMAN
  • B1AKI2_HUMAN
  • B1AKI4_HUMAN
  • B1AKI5_HUMAN
  • B1AKI6_HUMAN
genes like me logo Genes that share paralogs with MBNL3: view

Variants for MBNL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBNL3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
771551 Benign: not provided 132,391,091(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MBNL3 Gene

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)

Additional Variant Information for MBNL3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MBNL3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MBNL3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
myoclonic cerebellar dyssynergia
  • myoclonus and ataxia
myotonic disease
  • myotonic syndrome
myotonic dystrophy 1
  • md1
myotonic dystrophy 2
  • dm2
- elite association - COSMIC cancer census association via MalaCards
Search MBNL3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 RM … Wang EH (Developmental biology 2002) 2 3 4 23 54
  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 JD (Human molecular genetics 2002) 3 4 23 54
  3. 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 23 54
  4. Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3. (PMID: 17102799) Self JE … Lotery AJ (Molecular vision 2006) 3 23 54
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54

Products for MBNL3 Gene

Sources for MBNL3 Gene