1. Gene Aliases

Myosin Heavy Chain 7, CMD1S, Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta, MyHC-Beta, Myosin-7, MYHCB, CMH1, MPD1, Myosin Heavy Chain, Cardiac Muscle Beta Isoform, Myosin, Heavy Chain 7, Cardiac Muscle, Beta, Cardiac Muscle Myosin Heavy Chain 7 Beta, Rhabdomyosarcoma Antigen MU-RMS-40.7A, Myosin Heavy Chain Beta-Subunit, Myosin Heavy Chain Slow Isoform, Myopathy, Distal 1, Myhc-Slow, MyHC-Slow, Myosin 7, CMYP7A, CMYP7B, SPMD, SPMM

[https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH7&keywords=Myh7]

2. Association with Toxicity and/or Disease at a Transcriptional Level

3. Summary of Protein Family and Structure

4. Proteins Known to Interact with Gene Product

Interactions with experimental support

5. Links to Gene Databases

6. GO Terms, MSigDB Signatures, Pathways Containing Gene with Descriptions of Gene Sets

Pathways:

GO terms:

ATP metabolic process [The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. GO:0046034]

adult heart development [The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure. GO:0007512]

cardiac muscle contraction [Muscle contraction of cardiac muscle tissue. GO:0060048]

cardiac muscle hypertrophy in response to stress [The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis. GO:0014898]

cellular response to 3,3',5-triiodo-L-thyronine [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 3,3',5-triiodo-L-thyronine stimulus. GO:1905243]

cellular response to angiotensin [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen. GO:1904385]

cellular response to hydrogen peroxide [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. GO:0070301]

muscle contraction [A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. GO:0006936]

muscle filament sliding [The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. GO:0030049]

regulation of heart rate [Any process that modulates the frequency or rate of heart contraction. GO:0002027]

regulation of slow-twitch skeletal muscle fiber contraction [Any process that modulates the frequency, rate or extent of slow-twitch skeletal muscle contraction. GO:0031449]

regulation of the force of heart contraction [Any process that modulates the extent of heart contraction, changing the force with which blood is propelled. GO:0002026]

regulation of the force of skeletal muscle contraction [Any process that modulates the frequency, rate or extent of the force of skeletal muscle contraction. The force of skeletal muscle contraction is produced by acto-myosin interaction processes through the formation of cross bridges. GO:0014728]

sarcomere organization [The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. GO:0045214]

skeletal muscle contraction [A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. GO:0003009]

striated muscle contraction [A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. GO:0006941]

transition between fast and slow fiber [The process of conversion of fast-contracting muscle fibers to a slower character. This may involve slowing of contractile rate, slow myosin gene induction, increase in oxidative metabolic properties, altered electrophysiology and altered innervation. This process also regulates skeletal muscle adapatation. GO:0014883]

ventricular cardiac muscle tissue morphogenesis [The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. GO:0055010]

MSigDB Signatures:

KEGG_CARDIAC_MUSCLE_CONTRACTION: Cardiac muscle contraction [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_CARDIAC_MUSCLE_CONTRACTION.html]

KEGG_DILATED_CARDIOMYOPATHY: Dilated cardiomyopathy [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_DILATED_CARDIOMYOPATHY.html]

KEGG_VIRAL_MYOCARDITIS: Viral myocarditis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_VIRAL_MYOCARDITIS.html]

KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM: Hypertrophic cardiomyopathy (HCM) [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM.html]

KEGG_TIGHT_JUNCTION: Tight junction [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_TIGHT_JUNCTION.html]

7. Gene Descriptions

NCBI Gene 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]

GeneCards Summary: MYH7 (Myosin Heavy Chain 7) is a Protein Coding gene. Diseases associated with MYH7 include Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive and Myopathy, Distal, 1. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and PAK Pathway. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH6.

UniProtKB/Swiss-Prot Summary: Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.

8. Cellular Location of Gene Product

Selective cytoplasmic expression in heart and skeletal muscle. Localized to the focal adhesion sites (based on antibodies targeting proteins from multiple genes). Predicted location: Intracellular [https://www.proteinatlas.org/ENSG00000092054/subcellular]

9. Mechanistic Information

Summary

The Myh7 gene encodes for the beta myosin heavy chain, which is primarily expressed in cardiac muscle and involved in muscle contraction [CS: 10]. In conditions of heart stress, such as hypertrophy or heart failure, there's a shift from the alpha myosin heavy chain (encoded by the Myh6 gene) to the beta form (encoded by the Myh7 gene) [CS: 9]. This shift is an adaptive response to increased mechanical stress or altered hormonal signals; the beta form is more energy-efficient albeit slower, which may be advantageous during pathological stress when energy conservation is critical [CS: 8].

Dysregulation of the Myh7 gene in heart disease can be viewed as an adaptation where, under stress conditions like hypoxia or mechanical overload, there's an upregulation of Myh7 expression leading to increased beta-MHC [CS: 7]. The beta-MHC is better suited for the sustained contractility required during these stress conditions with less energy demand compared to the alpha-MHC [CS: 8]. Thus, the upregulation of Myh7 can be seen as a compensatory mechanism to maintain heart function despite decreased energy availability or increased workload [CS: 7]. However, chronic upregulation can contribute to pathological cardiac remodeling and dysfunction, as the heart becomes less capable of adapting to the continued stress, leading to diseases such as hypertrophic cardiomyopathy [CS: 6].

10. Upstream Regulators

11. Tissues/Cell Type Where Genes are Overexpressed

Tissue type enchanced: heart muscle, skeletal muscle, tongue (group enriched) [https://www.proteinatlas.org/ENSG00000092054/tissue]

Cell type enchanced: cardiomyocytes (cell type enriched) [https://www.proteinatlas.org/ENSG00000092054/single+cell+type]

12. Role of Gene in Other Tissues

13. Chemicals Known to Elicit Transcriptional Response of Biomarker in Tissue of Interest

Compounds that increase expression of the gene:

Compounds that decrease expression of the gene:

14. DisGeNet Biomarker Associations to Disease in Organ of Interest