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MYH7 myosin, heavy chain 7, cardiac muscle, beta [ Homo sapiens (human) ]

Gene ID: 4625, updated on 26-Jul-2015
Official Symbol
MYH7provided by HGNC
Official Full Name
myosin, heavy chain 7, cardiac muscle, betaprovided by HGNC
Primary source
HGNC:HGNC:7577
See related
Ensembl:ENSG00000092054; HPRD:01175; 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
See MYH7 in Epigenomics, MapViewer
Location:
14q12
Exon count:
41
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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, cardiac muscle, alpha Neighboring gene microRNA 208b Neighboring gene myosin heavy chain-associated RNA transcript Neighboring gene neuroguidin, EIF4E binding protein 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, hyaline body, autosomal recessive
MedGen: C1850709 OMIM: 255160 GeneReviews: Not available
not available
Myopathy, myosin storage
MedGen: C1842160 OMIM: 608358 GeneReviews: Not available
Compare labs
Scapuloperoneal myopathy, MYH7-related
MedGen: CN074265 OMIM: 181430 GeneReviews: Not available
Compare labs

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...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of 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 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 
response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
 
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
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
focal adhesion IDA
Inferred from Direct Assay
more info
 
muscle myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin complex TAS
Traceable Author Statement
more info
PubMed 
myosin filament IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
stress fiber IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myosin-7
Names
myHC-beta
myhc-slow
myopathy, distal 1
myosin heavy chain slow isoform
myosin heavy chain, cardiac muscle beta isoform
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, OTTHUMP00000027949, ENST00000355349, OTTHUMT00000071798
    Conserved Domains (8) summary
    pfam01576
    Location:10681926
    Myosin_tail_1; Myosin tail
    pfam00261
    Location:8471043
    Tropomyosin; Tropomyosin
    smart00242
    Location:80778
    MYSc; Myosin. Large ATPases
    pfam02736
    Location:3475
    Myosin_N; Myosin N-terminal SH3-like domain
    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
    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 ...
    cd14917
    Location:99766
    MYSc_Myh7; class II myosin heavy chain 7, motor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

RNA

  1. XR_245686.3 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

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