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

Gene ID: 4625, updated on 4-Dec-2022

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
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
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Genomic context

See MYH7 in Genome Data Viewer
Location:
14q11.2
Exon count:
40
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23412740..23435660, complement)
110 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 myosin heavy chain 6 Neighboring gene microRNA 208a Neighboring gene VISTA enhancer hs2155 Neighboring gene microRNA 208b Neighboring gene myosin heavy chain associated RNA transcript Neighboring gene VISTA enhancer hs1670 Neighboring gene VISTA enhancer hs2330

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

Associated conditions

Description Tests
Congenital myopathy with fiber type disproportion
MedGen: C0546264 OMIM: 255310 GeneReviews: Not available
Compare labs
Dilated cardiomyopathy 1S
MedGen: C1834481 OMIM: 613426 GeneReviews: Not available
Compare labs
Hypertrophic cardiomyopathy 1 Compare labs
MYH7-related late-onset scapuloperoneal muscular dystrophy
MedGen: C4759774 OMIM: 181430 GeneReviews: Not available
Compare labs
MYH7-related skeletal myopathy
MedGen: C4552004 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

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

Homology

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)

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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.

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
    P12883, Q9UMM8
    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
    Q9UMM8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

mRNA and Protein(s)

  1. XM_017021340.2XP_016876829.1  myosin-7 isoform X1

    UniProtKB/Swiss-Prot
    P12883
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

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