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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q11.2

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	14	NC_000014.9 (23412740..23435677, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23881949..23904869, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Title: Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene.
Title: Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene.
Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.
Title: Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Title: Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
Title: Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
Cationic porphyrins as destabilizer of a G-quadruplex located at the promoter of human MYH7 beta gene.
Title: Cationic porphyrins as destabilizer of a G-quadruplex located at the promoter of human MYH7 β gene.
Generation of a hiPSC line ZZUNEUi007-A from a patient with hypertrophic cardiomyopathy caused by mutation in MYH7.
Title: Generation of a hiPSC line ZZUNEUi007-A from a patient with hypertrophic cardiomyopathy caused by mutation in MYH7.
Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
Title: Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.
Title: Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.
A new mutation affecting the converter region of the beta-myosin heavy chain related to hypertrophic cardiomyopathy with poor prognosis.
Title: A new mutation affecting the converter region of the beta-myosin heavy chain related to hypertrophic cardiomyopathy with poor prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (162)

Phenotypes

Go to the top of the page Help

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: Not available	Compare labs
Dilated cardiomyopathy 1S MedGen: C1834481 OMIM: 613426 GeneReviews: Not available	Compare labs
Familial hypertrophic cardiomyopathy 1 MedGen: C3495498 OMIM: 192600 GeneReviews: 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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 58 organisms have orthologs with human gene MYH7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype 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	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 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
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 complex	TAS Traceable Author Statement 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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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

COG5022
Location:37 → 1432

COG5022; Myosin heavy chain [General function prediction only]

TIGR02168
Location:1173 → 1930

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd14917
Location:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

COG5022
Location:37 → 1432

COG5022; Myosin heavy chain [General function prediction only]

TIGR02168
Location:1173 → 1930

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd14917
Location:99 → 766

MYSc_Myh7; class II myosin heavy chain 7, motor domain