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    Mbnl2 muscleblind like splicing factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 105559, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mbnl2provided by MGI
    Official Full Name
    muscleblind like splicing factor 2provided by MGI
    Primary source
    MGI:MGI:2145597
    See related
    Ensembl:ENSMUSG00000022139 AllianceGenome:MGI:2145597
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MBLL; mKIAA4072; 1110002M11Rik
    Summary
    Predicted to enable RNA binding activity and sequence-specific double-stranded DNA binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and retina. Used to study myotonic disease. Orthologous to human MBNL2 (muscleblind like splicing regulator 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 30.1), cerebellum adult (RPKM 20.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mbnl2 in Genome Data Viewer
    Location:
    14 E4; 14 64.44 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (120513077..120669110)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (120275652..120431698)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_37681 Neighboring gene 60S ribosomal protein L39 pseudogene Neighboring gene STARR-seq mESC enhancer starr_37683 Neighboring gene predicted gene 4681 Neighboring gene predicted gene, 41250 Neighboring gene STARR-positive B cell enhancer ABC_E7354 Neighboring gene STARR-positive B cell enhancer ABC_E2435 Neighboring gene STARR-positive B cell enhancer ABC_E8901 Neighboring gene STARR-seq mESC enhancer starr_37684 Neighboring gene predicted gene, 52122 Neighboring gene STARR-seq mESC enhancer starr_37689 Neighboring gene STARR-seq mESC enhancer starr_37690 Neighboring gene STARR-seq mESC enhancer starr_37691 Neighboring gene predicted gene, 26679 Neighboring gene STARR-positive B cell enhancer ABC_E11582 Neighboring gene predicted gene, 57500 Neighboring gene STARR-seq mESC enhancer starr_37692 Neighboring gene STARR-seq mESC enhancer starr_37693 Neighboring gene RAS related protein 2a Neighboring gene predicted gene, 41251

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mbnl2 loss alters novel context processing and impairs object recognition memory. Khandelwal A, et al. iScience, 2023 May 19. PMID 37216102, Free PMC Article
    2. Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. Hao M, et al. Dev Dyn, 2008 Feb. PMID 18213585
    3. Muscleblind-like 2 knockout shifts adducin 1 isoform expression and alters dendritic spine dynamics of cortical neurons during brain development. Huang CW, et al. Neuropathol Appl Neurobiol, 2023 Apr. PMID 36765387
    4. Altered Behavioral Responses Show GABA Sensitivity in Muscleblind-Like 2-Deficient Mice: Implications for CNS Symptoms in Myotonic Dystrophy. Edokpolor KS, et al. eNeuro, 2022 Sep-Oct. PMID 36150891, Free PMC Article
    5. Protective effects of mirtazapine in mice lacking the Mbnl2 gene in forebrain glutamatergic neurons: Relevance for myotonic dystrophy 1. Ramon-Duaso C, et al. Neuropharmacology, 2020 Jun 15. PMID 32171677

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration.
      Title: Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration.
    2. Muscleblind-like 2 knockout shifts adducin 1 isoform expression and alters dendritic spine dynamics of cortical neurons during brain development.
      Title: Muscleblind-like 2 knockout shifts adducin 1 isoform expression and alters dendritic spine dynamics of cortical neurons during brain development.
    3. Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function.
      Title: Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function.
    4. Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.
      Title: Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.
    5. Mbnl1 and Mbnl2 regulate brain structural integrity in mice.
      Title: Mbnl1 and Mbnl2 regulate brain structural integrity in mice.
    6. Protective effects of mirtazapine in mice lacking the Mbnl2 gene in forebrain glutamatergic neurons: Relevance for myotonic dystrophy 1.
      Title: Protective effects of mirtazapine in mice lacking the Mbnl2 gene in forebrain glutamatergic neurons: Relevance for myotonic dystrophy 1.
    7. Mbnl1 andMbnl2 were functional at the molecular level and improved splicing events in the mouse disease model.
      Title: Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.
    8. This study uncovers non-canonical functions of MBNL proteins (Mbnl1/2) that bind and promote the expression of miR-294 targets, including Cdkn1a and Tgfbr2, thereby opposing the role of miR-294 in regulating cell proliferation, apoptosis, and epithelial-mesenchymal transition (EMT).
      Title: Opposing roles of miR-294 and MBNL1/2 in shaping the gene regulatory network of embryonic stem cells.
    9. Mbnl1(+/-); Mbnl2(+/-) knockout mice with myotonic dystrophy presented with clinical myofibril ultrastructural abnormality and cardiac arrhythmias.
      Title: Optical Mapping Approaches on Muscleblind-Like Compound Knockout Mice for Understanding Mechanistic Insights Into Ventricular Arrhythmias in Myotonic Dystrophy.
    10. Depletion of Mbnl1 and/or Mbnl2 reduced localization of hundreds of transcripts, implicating Mbnls in localization of mRNAs to neurites
      Title: Distal Alternative Last Exons Localize mRNAs to Neural Projections.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4072

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of alternative mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    muscleblind-like protein 2
    Names
    muscleblind-like 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001360376.1 → NP_001347305.1  muscleblind-like protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AI837313, AK085709, AK153261, BB673209, BC079898, BE336239
      Consensus CDS
      CCDS49567.1
      UniProtKB/Swiss-Prot
      Q3TPH4, Q5DTQ0, Q8BUD8, Q8C181
      Related
      ENSMUSP00000154559.2, ENSMUST00000227594.2
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    2. NM_001360377.1 → NP_001347306.1  muscleblind-like protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AI837313, AK085709, BB673209, BC079898, BE336239, BY198796
      Consensus CDS
      CCDS88727.1
      UniProtKB/TrEMBL
      A0A2K6EDM5
      Related
      ENSMUSP00000126186.3, ENSMUST00000167459.3
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    3. NM_001360378.1 → NP_001347307.1  muscleblind-like protein 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AI836577, AI837313, AK085709, BB673209, BC079898, BE336239, BY198796
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    4. NM_001360379.1 → NP_001347308.1  muscleblind-like protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AI837313, AI852388, AK085709, BB673209, BC079898, BE336239, BY198796
      UniProtKB/TrEMBL
      D0EX61
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    5. NM_001360380.1 → NP_001347309.1  muscleblind-like protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AI837313, AK085709, BB673209, BC079898, BE336239, BY198796, CX734524
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    6. NM_175341.4 → NP_780550.1  muscleblind-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_780550.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer isoform (1).
      Source sequence(s)
      AI461681, AK085709, BB673209, BC079898, BE336239, BY198796
      Consensus CDS
      CCDS49567.1
      UniProtKB/Swiss-Prot
      Q3TPH4, Q5DTQ0, Q8BUD8, Q8C181
      Related
      ENSMUSP00000085763.7, ENSMUST00000088419.13
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    7. NM_207515.2 → NP_997398.1  muscleblind-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_997398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding region segment, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AI461681, AK085709, BB673209, BC079898, BE336239, BY198796
      Consensus CDS
      CCDS49568.1
      UniProtKB/Swiss-Prot
      Q8C181
      Related
      ENSMUSP00000153973.2, ENSMUST00000227012.2
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      120513077..120669110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158369.1 → XP_036014262.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A2K6EDM5
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    2. XM_030247589.2 → XP_030103449.1  muscleblind-like protein 2 isoform X3

      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    3. XM_036158370.1 → XP_036014263.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      D0EX61
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    4. XM_036158367.1 → XP_036014260.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A2K6EDM5
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger

    5. XM_030247588.1 → XP_030103448.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      D0EX61
      Conserved Domains (1) summary
      smart00356
      Location:178 → 202
      ZnF_C3H1; zinc finger
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C181.2 GenPept UniProtKB/Swiss-Prot:Q8C181

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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