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

    Gene ID: 105559, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 30.1), cerebellum adult (RPKM 20.2) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001360376.1NP_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:178202
      ZnF_C3H1; zinc finger
    2. NM_001360377.1NP_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:178202
      ZnF_C3H1; zinc finger
    3. NM_001360378.1NP_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:178202
      ZnF_C3H1; zinc finger
    4. NM_001360379.1NP_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:178202
      ZnF_C3H1; zinc finger
    5. NM_001360380.1NP_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:178202
      ZnF_C3H1; zinc finger
    6. NM_175341.4NP_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:178202
      ZnF_C3H1; zinc finger
    7. NM_207515.2NP_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:178202
      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_036158369.1XP_036014262.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A2K6EDM5
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    2. XM_030247589.2XP_030103449.1  muscleblind-like protein 2 isoform X3

      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    3. XM_036158370.1XP_036014263.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      D0EX61
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    4. XM_036158367.1XP_036014260.1  muscleblind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A2K6EDM5
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger
    5. XM_030247588.1XP_030103448.1  muscleblind-like protein 2 isoform X2

      UniProtKB/TrEMBL
      D0EX61
      Conserved Domains (1) summary
      smart00356
      Location:178202
      ZnF_C3H1; zinc finger