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    Myoz2 myozenin 2 [ Mus musculus (house mouse) ]

    Gene ID: 59006, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Myoz2provided by MGI
    Official Full Name
    myozenin 2provided by MGI
    Primary source
    MGI:MGI:1913063
    See related
    Ensembl:ENSMUSG00000028116 AllianceGenome:MGI:1913063
    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
    Fatz-2; Myozl2; 1110012I24Rik
    Summary
    Enables actin binding activity. Involved in several processes, including negative regulation of calcineurin-NFAT signaling cascade; sarcomere organization; and skeletal muscle fiber adaptation. Located in Z disc and actin cytoskeleton. Is expressed in several structures, including diaphragm; foregut; heart; liver; and skeletal musculature. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy 16. Orthologous to human MYOZ2 (myozenin 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward heart adult (RPKM 172.8) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 G1; 3 53.78 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (122799855..122828649, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (123006206..123035003, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810037I17 gene Neighboring gene STARR-seq mESC enhancer starr_08897 Neighboring gene STARR-positive B cell enhancer ABC_E6116 Neighboring gene STARR-seq mESC enhancer starr_08899 Neighboring gene ubiquitin specific peptidase 53 Neighboring gene STARR-seq mESC enhancer starr_08901 Neighboring gene predicted gene, 54182 Neighboring gene synaptopodin 2 Neighboring gene STARR-seq mESC enhancer starr_08902 Neighboring gene STARR-positive B cell enhancer ABC_E10211 Neighboring gene STARR-seq mESC enhancer starr_08903 Neighboring gene STARR-seq mESC enhancer starr_08904 Neighboring gene SEC24 homolog D, COPII coat complex component

    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. Post-translational regulation of calsarcin-1 during pressure overload-induced cardiac hypertrophy. Paulsson AK, et al. J Mol Cell Cardiol, 2010 Jun. PMID 20170660, Free PMC Article
    2. Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Ruggiero A, et al. Cardiovasc Res, 2013 Jan 1. PMID 22987565, Free PMC Article
    3. Whole-genome analysis of gene expression associates the ubiquitin-proteasome system with the cardiomyopathy phenotype in disease-sensitized congenic mouse strains. Ivandic BT, et al. Cardiovasc Res, 2012 Apr 1. PMID 22308238
    4. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. Posch MG, et al. Med Sci Monit, 2008 Jul. PMID 18591919
    5. Calsarcin-1 protects against angiotensin-II induced cardiac hypertrophy. Frank D, et al. Circulation, 2007 Nov 27. PMID 18025526

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of post-translational regulation of calsarcin-1 during pressure overload-induced cardiac hypertrophy
      Title: Post-translational regulation of calsarcin-1 during pressure overload-induced cardiac hypertrophy.
    2. MYOZ2 mutations are rare causes of familial familial hypertrophic cardiomyopathy.
      Title: Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.
    3. The sarcomeric protein CS1 prevents Ang-II-induced cardiomyocyte hypertrophy at least in part via inhibition of calcineurin signaling.
      Title: Calsarcin-1 protects against angiotensin-II induced cardiac hypertrophy.
    4. study defined proximal promoter region of calsarcin-1 (CS-1)& calsarcin-2 (CS-2)genes; data suggest NF-kappaB is required for transcription of CS-1 gene, but not CS-2
      Title: NF-kappaB mediates the transcription of mouse calsarcin-1 gene, but not calsarcin-2, in C2C12 cells.
    5. calsarcin-1 negatively modulates the functions of calcineurin.
      Title: Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress.
    Submit: New GeneRIF Correction

    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 FATZ binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables telethonin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables telethonin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sarcomere organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle fiber adaptation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in actin cytoskeleton IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myozenin-2
    Names
    FATZ-related protein 2
    calsarcin-1
    myozenin-like 2

    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_001355462.1 → NP_001342391.1  myozenin-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC121540
      Conserved Domains (1) summary
      pfam05556
      Location:1 → 235
      Calsarcin; Calcineurin-binding protein (Calsarcin)

    2. NM_021503.2 → NP_067478.1  myozenin-2 isoform 1

      See identical proteins and their annotated locations for NP_067478.1

      Status: VALIDATED

      Source sequence(s)
      AC121540
      Consensus CDS
      CCDS17816.1
      UniProtKB/Swiss-Prot
      Q9JJW5
      Related
      ENSMUSP00000029761.8, ENSMUST00000029761.14
      Conserved Domains (1) summary
      pfam05556
      Location:1 → 264
      Calsarcin; Calcineurin-binding protein (Calsarcin)

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      122799855..122828649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501830.4 → XP_006501893.1  myozenin-2 isoform X2

      See identical proteins and their annotated locations for XP_006501893.1

      Conserved Domains (1) summary
      pfam05556
      Location:29 → 185
      Calsarcin; Calcineurin-binding protein (Calsarcin)

    2. XM_006501828.4 → XP_006501891.1  myozenin-2 isoform X1

      See identical proteins and their annotated locations for XP_006501891.1

      Conserved Domains (1) summary
      pfam05556
      Location:1 → 235
      Calsarcin; Calcineurin-binding protein (Calsarcin)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJW5.1 GenPept UniProtKB/Swiss-Prot:Q9JJW5

    Gene LinkOut

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

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