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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

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