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    MYOZ2 myozenin 2 [ Homo sapiens (human) ]

    Gene ID: 51778, updated on 3-Apr-2024

    Summary

    Official Symbol
    MYOZ2provided by HGNC
    Official Full Name
    myozenin 2provided by HGNC
    Primary source
    HGNC:HGNC:1330
    See related
    Ensembl:ENSG00000172399 MIM:605602; AllianceGenome:HGNC:1330
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CS-1; CMH16; C4orf5; FATZ-2
    Summary
    The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
    Expression
    Restricted expression toward heart (RPKM 236.3) See more
    Orthologs
    NEW
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    Genomic context

    Location:
    4q26
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (119135832..119187789)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (122438583..122492858)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120056987..120108944)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene synaptopodin 2 Neighboring gene uncharacterized LOC105377394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21851 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:119952827-119953326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:119989169-119989985 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:119994879-119995380 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:119995381-119995880 Neighboring gene uncharacterized LOC102723967 Neighboring gene Sharpr-MPRA regulatory region 3409 Neighboring gene uncharacterized LOC105377395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:120042725-120043224 Neighboring gene uncharacterized LOC105379404 Neighboring gene uncharacterized LOC101929762 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:120130431-120131630 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:120132786-120133360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:120133934-120134507 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 1 Neighboring gene ubiquitin specific peptidase 53

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 2B binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables telethonin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in negative regulation of calcineurin-NFAT signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle fiber adaptation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Z disc NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    myozenin-2
    Names
    FATZ-related protein 2
    calcineurin-binding protein calsarcin-1
    muscle-specific protein

    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.

    Genomic

    1. NG_029747.1 RefSeqGene

      Range
      5001..57006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_396

    mRNA and Protein(s)

    1. NM_016599.5NP_057683.1  myozenin-2

      See identical proteins and their annotated locations for NP_057683.1

      Status: REVIEWED

      Source sequence(s)
      AC092656, BC020932, BM091578, BP370492
      Consensus CDS
      CCDS3711.1
      UniProtKB/Swiss-Prot
      O43415, Q9HB92, Q9NPC6
      UniProtKB/TrEMBL
      B2R9N7
      Related
      ENSP00000306997.6, ENST00000307128.6
      Conserved Domains (1) summary
      pfam05556
      Location:1264
      Calsarcin; Calcineurin-binding protein (Calsarcin)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      119135832..119187789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714234.5XP_006714297.1  myozenin-2 isoform X1

      Conserved Domains (1) summary
      pfam05556
      Location:1187
      Calsarcin; Calcineurin-binding protein (Calsarcin)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      122438583..122492858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350177.1XP_054206152.1  myozenin-2 isoform X2

      UniProtKB/Swiss-Prot
      O43415, Q9HB92, Q9NPC6
    2. XM_054350178.1XP_054206153.1  myozenin-2 isoform X1