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    Rbm20 RNA binding motif protein 20 [ Mus musculus (house mouse) ]

    Gene ID: 73713, updated on 12-May-2024

    Summary

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    Official Symbol
    Rbm20provided by MGI
    Official Full Name
    RNA binding motif protein 20provided by MGI
    Primary source
    MGI:MGI:1920963
    See related
    Ensembl:ENSMUSG00000043639 AllianceGenome:MGI:1920963
    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
    1110018J23Rik; 2010003H22Rik
    Summary
    Enables RNA binding activity. Involved in positive regulation of RNA splicing. Located in nucleus. Is expressed in diaphragm; heart; limb segment; skeletal musculature; and tail paraxial mesenchyme. Used to study atrial fibrillation and dilated cardiomyopathy 1DD. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1DD. Orthologous to human RBM20 (RNA binding motif protein 20). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 15.7), limb E14.5 (RPKM 1.3) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rbm20 in Genome Data Viewer
    Location:
    19 D2; 19 48.28 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (53649422..53855514)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (53660989..53867083)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_46462 Neighboring gene STARR-positive B cell enhancer ABC_E621 Neighboring gene nuclear transport factor 2, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_46463 Neighboring gene structural maintenance of chromosomes 3 Neighboring gene STARR-seq mESC enhancer starr_46464 Neighboring gene predicted gene, 46653 Neighboring gene VISTA enhancer mm64 Neighboring gene STARR-seq mESC enhancer starr_46467 Neighboring gene predicted gene, 30943 Neighboring gene predicted gene, 30890 Neighboring gene STARR-seq mESC enhancer starr_46468 Neighboring gene predicted gene 16299 Neighboring gene STARR-seq mESC enhancer starr_46470 Neighboring gene STARR-positive B cell enhancer ABC_E8757 Neighboring gene STARR-positive B cell enhancer ABC_E11040 Neighboring gene predicted gene, 30990 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53965483-53965684 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53968181-53968334 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:53968382-53968491 Neighboring gene STARR-positive B cell enhancer ABC_E622 Neighboring gene STARR-seq mESC enhancer starr_46471 Neighboring gene STARR-seq mESC enhancer starr_46472 Neighboring gene programmed cell death 4 Neighboring gene STARR-seq mESC enhancer starr_46473 Neighboring gene BBSome interacting protein 1 Neighboring gene Shoc2, leucine rich repeat scaffold protein Neighboring gene STARR-seq mESC enhancer starr_46474

    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
    • 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. Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy. Zhang Y, et al. JCI Insight, 2023 Jul 10. PMID 37219949, Free PMC Article
    2. Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy. Nishiyama T, et al. Sci Transl Med, 2022 Nov 23. PMID 36417486, Free PMC Article
    3. Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy. Lennermann DC, et al. Am J Physiol Heart Circ Physiol, 2022 Dec 1. PMID 36367695
    4. A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice. Ihara K, et al. Sci Rep, 2020 Oct 27. PMID 33110103, Free PMC Article
    5. Structural basis of UCUU RNA motif recognition by splicing factor RBM20. Upadhyay SK, et al. Nucleic Acids Res, 2020 May 7. PMID 32187365, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
      Title: Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.
    2. Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
      Title: Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy.
    3. Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.
      Title: Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy.
    4. The skeletal muscle circadian clock regulates titin splicing through RBM20.
      Title: The skeletal muscle circadian clock regulates titin splicing through RBM20.
    5. RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.
      Title: RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.
    6. RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis.
      Title: RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis.
    7. A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.
      Title: A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.
    8. RBM20 uses a coupled folding-binding mechanism by the C-terminal helix to specifically recognize the UCUU RNA motif.
      Title: Structural basis of UCUU RNA motif recognition by splicing factor RBM20.
    9. RBM20 mutations/loss disturbs Ca(2+) handling and leads to more proarrhythmic Ca(2+) releases from the sarcoplasmic reticulum.
      Title: RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.
    10. Reducing RBM20 activity improves diastolic dysfunction and cardiac atrophy.
      Title: Reducing RBM20 activity improves diastolic dysfunction and cardiac atrophy.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pre-mRNA intronic binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pre-mRNA intronic binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables splicing factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heart formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    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 alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein 20
    Names
    probable RNA-binding protein 20

    NCBI Reference Sequences (RefSeq)

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    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_001170847.1 → NP_001164318.1  RNA-binding protein 20

      See identical proteins and their annotated locations for NP_001164318.1

      Status: VALIDATED

      Source sequence(s)
      AK142175, BC038663, CJ099472
      Consensus CDS
      CCDS50468.1
      UniProtKB/Swiss-Prot
      E9PVK0, Q3UQS8, Q8CFS9
      Related
      ENSMUSP00000129447.2, ENSMUST00000164202.9
      Conserved Domains (2) summary
      smart00451
      Location:1131 → 1165
      ZnF_U1; U1-like zinc finger
      cd12685
      Location:520 → 595
      RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      53649422..53855514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247371.2 → XP_011245673.1  RNA-binding protein 20 isoform X1

      Conserved Domains (3) summary
      smart00451
      Location:1076 → 1110
      ZnF_U1; U1-like zinc finger
      PRK08724
      Location:578 → 795
      fliD; flagellar filament capping protein FliD
      cd12685
      Location:465 → 540
      RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)

    2. XM_036161707.1 → XP_036017600.1  RNA-binding protein 20 isoform X3

      Conserved Domains (3) summary
      smart00451
      Location:1029 → 1063
      ZnF_U1; U1-like zinc finger
      PRK08724
      Location:531 → 748
      fliD; flagellar filament capping protein FliD
      cd12685
      Location:418 → 493
      RRM_RBM20; RNA recognition motif (RRM) found in vertebrate RNA-binding protein 20 (RBM20)

    3. XM_011247372.3 → XP_011245674.1  RNA-binding protein 20 isoform X2

      Conserved Domains (3) summary
      smart00451
      Location:1071 → 1105
      ZnF_U1; U1-like zinc finger
      PRK08724
      Location:573 → 790
      fliD; flagellar filament capping protein FliD
      cd12685
      Location:460 → 535
      RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)

    4. XM_006527385.5 → XP_006527448.1  RNA-binding protein 20 isoform X3

      See identical proteins and their annotated locations for XP_006527448.1

      Conserved Domains (3) summary
      smart00451
      Location:1029 → 1063
      ZnF_U1; U1-like zinc finger
      PRK08724
      Location:531 → 748
      fliD; flagellar filament capping protein FliD
      cd12685
      Location:418 → 493
      RRM_RBM20; RNA recognition motif (RRM) found in vertebrate RNA-binding protein 20 (RBM20)

    5. XM_036161706.1 → XP_036017599.1  RNA-binding protein 20 isoform X3

      Conserved Domains (3) summary
      smart00451
      Location:1029 → 1063
      ZnF_U1; U1-like zinc finger
      PRK08724
      Location:531 → 748
      fliD; flagellar filament capping protein FliD
      cd12685
      Location:418 → 493
      RRM_RBM20; RNA recognition motif (RRM) found in vertebrate RNA-binding protein 20 (RBM20)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UQS8.3 GenPept UniProtKB/Swiss-Prot:Q3UQS8

    Gene LinkOut

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