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    MYH7 myosin heavy chain 7 [ Homo sapiens (human) ]

    Gene ID: 4625, updated on 7-Sep-2023

    Summary

    Official Symbol
    MYH7provided by HGNC
    Official Full Name
    myosin heavy chain 7provided by HGNC
    Primary source
    HGNC:HGNC:7577
    See related
    Ensembl:ENSG00000092054 MIM:160760; AllianceGenome:HGNC:7577
    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
    CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB; CMYP7A; CMYP7B
    Summary
    Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]
    Expression
    Restricted expression toward heart (RPKM 1505.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYH7 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23412740..23435660, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17613744..17636658, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23881949..23904869, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23858153-23858756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23858757-23859360 Neighboring gene CKLF like MARVEL transmembrane domain containing 5 Neighboring gene microRNA 208a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23871133-23871675 Neighboring gene myosin heavy chain 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23871676-23872217 Neighboring gene VISTA enhancer hs2155 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 Neighboring gene microRNA 208b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23904729-23905566 Neighboring gene myosin heavy chain associated RNA transcript Neighboring gene VISTA enhancer hs1670 Neighboring gene VISTA enhancer hs2330 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:23938675-23939615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23951280-23952037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23952038-23952794 Neighboring gene neuroguidin Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23963206-23963906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23993935-23994786 Neighboring gene thiamine triphosphatase Neighboring gene uncharacterized LOC124903289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24001492-24001992 Neighboring gene zinc finger homeobox 2

    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?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYH7 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-15)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-15)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies multiple loci related to resting heart rate.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 protease cleaves human myosin heavy chain in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138376, MGC138378, DKFZp451F047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in muscle filament sliding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in muscle filament sliding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of slow-twitch skeletal muscle fiber contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of the force of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of the force of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in striated muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transition between fast and slow fiber IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of muscle myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in myosin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    myosin-7
    Names
    cardiac muscle myosin heavy chain 7 beta
    myHC-beta
    myhc-slow
    myosin 7
    myosin heavy chain beta-subunit
    myosin, heavy chain 7, cardiac muscle, beta
    myosin, heavy polypeptide 7, cardiac muscle, beta
    rhabdomyosarcoma antigen MU-RMS-40.7A

    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_007884.1 RefSeqGene

      Range
      4976..27924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_384

    mRNA and Protein(s)

    1. NM_000257.4NP_000248.2  myosin-7

      See identical proteins and their annotated locations for NP_000248.2

      Status: REVIEWED

      Source sequence(s)
      BC112173, EU747717, M58018
      Consensus CDS
      CCDS9601.1
      UniProtKB/Swiss-Prot
      A2TDB6, B6D424, P12883, Q14836, Q14837, Q14904, Q16579, Q2M1Y6, Q92679, Q9H1D5, Q9UDA2, Q9UMM8
      UniProtKB/TrEMBL
      A5YM51
      Related
      ENSP00000347507.3, ENST00000355349.4
      Conserved Domains (3) summary
      COG5022
      Location:371432
      COG5022; Myosin heavy chain [General function prediction only]
      TIGR02168
      Location:11731930
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd14917
      Location:99766
      MYSc_Myh7; class II myosin heavy chain 7, motor domain
    2. NM_001407004.1NP_001393933.1  myosin-7

      Status: REVIEWED

      Source sequence(s)
      AL132855
      Consensus CDS
      CCDS9601.1
      UniProtKB/Swiss-Prot
      A2TDB6, B6D424, P12883, Q14836, Q14837, Q14904, Q16579, Q2M1Y6, Q92679, Q9H1D5, Q9UDA2, Q9UMM8
      UniProtKB/TrEMBL
      A5YM51

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23412740..23435660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17613744..17636658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)