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
109.20201120	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 MYH7 mutation R723G alters mRNA secondary structure.
Title: Hypertrophic cardiomyopathy <i>MYH7</i> mutation R723G alters mRNA secondary structure.
Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy.", trans "Genes frecuentemente asociados con muerte subita en miocardiopatia hipertrofica primaria.
Title: Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy.
Cases demonstrated that recessive MYH7 mutations cause a childhood-onset myopathy with features of the Rigid Spine Syndrome (RSS) and early-onset, rapidly progressive respiratory impairment. Expressed mutant MYH7 protein in COS-7 cells, observing abnormal mutant myosin aggregation compared to wild-type. Described skinned myofiber studies of patient muscle and hypertrophy of type II myofibers, which may be a compensatory
Title: Recessive MYH7-related myopathy in two families.
More than 1500 variants in MYBPC3, MYH7 and other sarcomeric genes are associated with human hypertrophic cardiomyopathy, while in cats, only two causative variants in MYBPC3 are currently known. A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.
Title: A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.
three-dimensional speckle tracking imaging is useful on predicting adverse cardiovascular events in hypertrophic cardiomyopathy patients with MYH7 mutations
Title: [The role of three-dimensional speckle tracking imaging derived parameters on predicting outcome of hypertrophic cardiomyopathy patients with MYH7 mutations].
A novel mutation of MYH7 in a patient with restrictive cardiomyopathy and left ventricle hypertrophy.
Title: Whole Exome Sequencing Identified a 13 Base Pair <i>MYH7</i> Deletion-mutation in a Patient with Restrictive Cardiomyopathy and Left Ventricle Hypertrophy.
We have presented here a detailed evaluation of the human beta-cardiacmyosin motor domain carrying 7 different Hypertrophic cardiomyopathy missense mutations.
Title: Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.
MYH7 mutations result in highly variable clinical phenotypes, from fatal to mild forms of CM, with or without skeletal involvement. Our series expands the knowledge on the genetic basis, the inheritance patterns, and the phenotypic correlations in MRD.
Title: Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
we identified several novel MYH7 mutations that are potentially pathogenic in HCM. Moreover, we reported the findings of a rare HCM family carrying monoallelic MYH7 double mutations, which have not been previously reported.
Title: Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.
Results identified a loss-of-function (LoF) variant in a compound heterozygous state with a missense variant in MYH7 leading to severe cardiomyopathy with left ventricular noncompaction. MYH7 haploinsufficiency due to one LoF allele results in a clinical phenotype only in compound heterozygous form with a missense variant.
Title: Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (152)

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
Genome-wide association analysis identifies multiple loci related to resting heart rate. GeneReviews: Not available
MYH7-related late-onset scapuloperoneal muscular dystrophy MedGen: C4759774 OMIM: 181430 GeneReviews: Not available	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

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

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

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: 53 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 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 Updated Annotation Release 109.20201120

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)