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

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
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]
Expression: Restricted expression toward heart (RPKM 1505.8) See more
Orthologs: mouse all

Genomic context

Location:: 14q11.2

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	14	NC_000014.9 (23412740..23435677, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23881947..23904870, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypertrophic cardiomyopathy mutations located at the myosin head-tail and head-head interfaces of a folded-back sequestered state referred to as the interacting heads motif lead to a significant increase in the number of heads functionally accessible for interaction with actin.
Title: β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.
Hypertrophic cardiomyopathy patients with LP/P variation in the MYH7 gene may be at a higher risk of developing atrial fibrillation than those with variation in other sarcomeric genes.
Title: Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy.
A total of 98 of 155 gene-tested patients carried a non-benign variant. The primary affected gene was MYH7 in 35% (MYH7+) and MYBPC3 in 49% (MYBPC3+). MYH7+ patients had earlier disease onset and higher risk of major adverse cardiac events (MACE)
Title: Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy.
A heterozygous missense rare variant in MYH7, resulting in an amino acid change from aspartic acid to valine at position 333, was identified in a double-chambered left ventricle pedigree.
Title: <i>MYH7</i> Rare Variant in a Family With Double-Chambered Left Ventricle.
findings therefore strongly indicate that apart from mutation-specific mechanisms, also non-HCM associated allelic-mRNA expression regulation may account for the allelic imbalance of the MYH7 gene in HCM-patients.
Title: Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.
Molecular dynamics simulations demonstrated that both A1603P and K1617del mutations affected the structure of MYH7, with A1603P mutation having a smaller effect compared to K1617del. Taken together, it seems likely that the MPD-1 mutations destabilize the coiled coil, resulting in aberrant myosin packing in thick filaments in muscle sarcomeres, providing a potential mechanism for Laing Early-Onset Distal Myopathy.
Title: A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7- related myopathies
Title: Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Asp554Tyr mutation of the MYH7 gene are associated with the hypertrophic cardiomyopathy in the Chinese pedigree.
Title: [Analysis of genotype-phenotype correlation for a novel MYH7-D554Y mutation identified in an ethnic Han Chinese pedigree affected with hypertrophic cardiomyopathy].
This study functionally characterized the motor domains of five Dilated cardiomyopathy - causing mutations in human beta-cardiac myosin, MYH7. Kinetic analyses of the individual events in the ATPase cycle revealed that each mutation alters different steps in this cycle.
Title: Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.
Of the 52 hypertrophic cardiomyopathy patients 12 (23.1%) had MYH7 variants.
Title: Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Submit: New GeneRIF Correction See all GeneRIFs (140)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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: Congenital Fiber-Type Disproportion	Compare labs
Dilated cardiomyopathy 1S MedGen: C1834481 OMIM: 613426 GeneReviews: Not available	Compare labs
Familial hypertrophic cardiomyopathy 1 MedGen: C3495498 OMIM: 192600 GeneReviews: Caveolinopathies, Hypertrophic Cardiomyopathy Overview	Compare labs
Myopathy, distal, 1 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
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 NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Pathways from BioSystems

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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...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93331 (e-PCR)
- UniSTS:87562

D14S49 (e-PCR)
- UniSTS:67613

SHGC-6999 (e-PCR)
- UniSTS:19522

RH66825 (e-PCR)
- UniSTS:5241

GDB:376871 (e-PCR)
- UniSTS:157066

GDB:198195 (e-PCR)
- UniSTS:156046

STS-N91549 (e-PCR)
- UniSTS:64175

MYH7 (e-PCR), detects polymorphism
- UniSTS:264117

GDB:196335 (e-PCR)
- UniSTS:155829

MARC_5445-5446:996690391:1 (e-PCR)
- UniSTS:269515

GDB:196475 (e-PCR)
- UniSTS:155855

D14S72 (e-PCR), detects polymorphism
- UniSTS:74451

GDB:180410 (e-PCR)
- UniSTS:155096

MARC_1924-1925:966881369:1 (e-PCR)
- UniSTS:230890

MARC_1924-1925:991931692:3 (e-PCR)
- UniSTS:230890

G36055 (e-PCR)
- UniSTS:54250

Homology

Homologs of the MYH7 gene: The MYH7 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, and frog.
Orthologs from Annotation Pipeline: 45 organisms have orthologs with human gene MYH7
Orthologs

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 filament 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

General protein information

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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

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

NG_007884.1 RefSeqGene

Range

4976..27924

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_384

mRNA and Protein(s)

NM_000257.4 → NP_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

Related

ENSP00000347507.3, ENST00000355349.4

Conserved Domains (3) summary

cd14917
Location:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain

cl25732
Location:1173 → 1930

SMC_N; RecF/RecN/SMC N terminal domain

cl27381
Location:37 → 1432

Myosin_head; Myosin head (motor domain)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p13 Primary Assembly

Range

23412740..23435677 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P12883

Conserved Domains (3) summary

cd14917
Location:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain

cl25732
Location:1173 → 1930

SMC_N; RecF/RecN/SMC N terminal domain

cl27381
Location:37 → 1432

Myosin_head; Myosin head (motor domain)