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; 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: all

Genomic context

See MYH7 in Genome Data Viewer Map Viewer

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_000014.9 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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

The authors demonstrate myosin tail (S2)-dependent functional regulation of actin-activated human beta-cardiac myosin ATPase. In addition, they show that both S2 and MyBP-C bind to S1 and that phosphorylation of either S1 or MyBP-C weakens these interactions.
Title: The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.
Our study supports that mutations in MYH7 and MYBPC3 should be the first focus of moleculargenetic analysis in HCM, and that mutations in TNNT2 have a low prevalence in Brazilian population. All mutations detected were missense mutations, whereas two mutations in MYH7 had not been described before.
Title: Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
Study shows lack of phenotypic differences between MYH7- and MYBPC3-associated hypertrophic cardiomyopathy when assessed by cardiac magnetic resonance imaging.
Title: Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.
Two novel heterozygous proline substitutions located in exon 31 of MYH7 within its rod domain:c.4309G>C (p.Ala1437Pro) and c.4301G>C (p.Arg1434Pro) is causing skeletal myopathies.
Title: Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
MYBPC3 and MYH7 were the most common mutated genes, accounting for 27% of the total Hypertrophic Cardiomyopathy patients and 83% of the putative mutations in the main sarcomeric genes.
Title: Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
MYH7 gene mutation is associated with Early-Onset Hypertrophic Cardiomyopathy.
Title: A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
family members who carried both the MYH7-A719H and MYOZ2-L169G mutations had more severe symptoms of hypertrophic cardiomyopathy, including sudden cardiac death, than those with only the MYH7 mutation
Title: Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.
Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations.
Title: Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
A novel heterozygous mutation (MYH7, p.Asn885Thr), and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with familial hypertrophic cardiomyopathy.
Title: Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
Multidimensional structure-function relationships in human beta-cardiac myosin from population-scale genetic variation.
Title: Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

Submit: New GeneRIF Correction See all GeneRIFs (116)

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: 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 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: 50 organisms have orthologs with human gene MYH7
The Hierarchical Catalog of 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 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_000257.3 → NP_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:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain

pfam00063
Location:87 → 766

Myosin_head; Myosin head (motor domain)

pfam01576
Location:846 → 1923

Myosin_tail_1; Myosin tail

pfam02736
Location:35 → 72

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1740 → 1830

TMPIT; TMPIT-like protein

cl00817
Location:1132 → 1293

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:879 → 1041

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:1232 → 1424

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...

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

Reference GRCh38.p7 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p7 Primary Assembly

Range

23412738..23435686 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 (8) summary

cd14917
Location:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain

pfam00063
Location:87 → 766

Myosin_head; Myosin head (motor domain)

pfam01576
Location:846 → 1923

Myosin_tail_1; Myosin tail

pfam02736
Location:35 → 72

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1740 → 1830

TMPIT; TMPIT-like protein

cl00817
Location:1132 → 1293

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:879 → 1041

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:1232 → 1424

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature