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

    Gene ID: 4625, updated on 20-Aug-2017
    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; Vega:OTTHUMG00000028755
    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
    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 early-onset distal myopathy. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    14q11.2
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (23412738..23435686, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23881947..23904870, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene CKLF like MARVEL transmembrane domain containing 5 Neighboring gene microRNA 208a Neighboring gene myosin heavy chain 6 Neighboring gene microRNA 208b Neighboring gene myosin heavy chain associated RNA transcript Neighboring gene neuroguidin Neighboring gene thiamine triphosphatase Neighboring gene zinc finger homeobox 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Associated conditions

    Description Tests
    Congenital myopathy with fiber type disproportion Compare labs
    Dilated cardiomyopathy 1S
    MedGen: C1834481 OMIM: 613426 GeneReviews: Not available
    Compare labs
    Familial hypertrophic cardiomyopathy 1 Compare labs
    Myopathy, distal, 1
    MedGen: CN074249 OMIM: 160500 GeneReviews: Laing Distal Myopathy
    Compare labs
    Myopathy, myosin storage, autosomal recessive
    MedGen: C1850709 OMIM: 255160 GeneReviews: Not available
    Compare labs
    Myosin storage myopathy
    MedGen: C1842160 OMIM: 608358 GeneReviews: Not available
    Compare labs
    Scapuloperoneal myopathy, MYH7-related
    MedGen: CN074265 OMIM: 181430 GeneReviews: Not available
    Compare labs

    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

    NHGRI GWAS Catalog

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

    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

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
      Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138376, MGC138378, DKFZp451F047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin-dependent ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfilament motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle filament sliding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart rate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of slow-twitch skeletal muscle fiber contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of the force of heart contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of the force of skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transition between fast and slow fiber IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    muscle myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    myosin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcomere ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcomere TAS
    Traceable Author Statement
    more info
    PubMed 
    stress fiber IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    myosin-7
    Names
    cardiac muscle myosin heavy chain 7 beta
    myHC-beta
    myhc-slow
    myopathy, distal 1
    myosin 7
    myosin heavy chain beta-subunit
    myosin heavy chain slow isoform
    myosin heavy chain, cardiac muscle beta isoform
    myosin, heavy chain 7, cardiac muscle, beta
    myosin, heavy polypeptide 7, cardiac muscle, beta
    rhabdomyosarcoma antigen MU-RMS-40.7A

    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_000257.3NP_000248.2  myosin-7

      See identical proteins and their annotated locations for NP_000248.2

      Status: REVIEWED

      Source sequence(s)
      BC112173, BF834726, EU747717, M58018
      Consensus CDS
      CCDS9601.1
      UniProtKB/Swiss-Prot
      P12883
      Related
      ENSP00000347507.3, OTTHUMP00000027949, ENST00000355349.3, OTTHUMT00000071798
      Conserved Domains (8) summary
      cd14917
      Location:99766
      MYSc_Myh7; class II myosin heavy chain 7, motor domain
      pfam00063
      Location:87766
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8461923
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3572
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17401830
      TMPIT; TMPIT-like protein
      cl00817
      Location:11321293
      MM_CoA_mutase; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM)-like family; contains proteins similar to MCM, and the large subunit of Streptomyces coenzyme B12-dependent isobutyryl-CoA mutase (ICM). MCM catalyzes the isomerization of ...
      cl02488
      Location:8791041
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl12013
      Location:12321424
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      23412738..23435686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021340.1XP_016876829.1  myosin-7 isoform X1

      UniProtKB/Swiss-Prot
      P12883
      Conserved Domains (8) summary
      cd14917
      Location:99766
      MYSc_Myh7; class II myosin heavy chain 7, motor domain
      pfam00063
      Location:87766
      Myosin_head; Myosin head (motor domain)
      pfam01576
      Location:8461923
      Myosin_tail_1; Myosin tail
      pfam02736
      Location:3572
      Myosin_N; Myosin N-terminal SH3-like domain
      pfam07851
      Location:17401830
      TMPIT; TMPIT-like protein
      cl00817
      Location:11321293
      MM_CoA_mutase; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM)-like family; contains proteins similar to MCM, and the large subunit of Streptomyces coenzyme B12-dependent isobutyryl-CoA mutase (ICM). MCM catalyzes the isomerization of ...
      cl02488
      Location:8791041
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl12013
      Location:12321424
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      23880619..23903563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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