MYH2 Gene Summary [Human]

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

Details

Type
Protein Coding
Official Symbol
MYH2
Official Name
myosin heavy chain 2 [Source:HGNC Symbol;Acc:HGNC:7572]
Ensembl ID
ENSG00000125414
Bio databases IDs NCBI: 4620 Ensembl: ENSG00000125414
Aliases myosin heavy chain 2
Synonyms CMYO6, CMYP6, IBM3, MHC2A, MHC-IIa, MHC type2 FAST, Myh1, MYH2A, MYHas8, Myhc2, MyHC-2A, Myhcf, MyHC-IIA, MYHSA2, Myhs-f, Myhs-f1, myosin heavy chain 2, Myosin heavy chain type iia, myosin, heavy polypeptide 2, skeletal muscle, adult, MYPOP, sMHC
Species
Human, Homo sapiens
OrthologiesMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Synaptonemal complex protein 1 (SCP-1)
  • microfilament motor protein
  • Myosin N-terminal SH3-like domain
  • helix-rich Mycoplasma protein
  • enzyme
  • Laminin Domain I
  • chromosome segregation protein SMC, common bacterial type
  • HOOK protein coiled-coil region
  • Mitotic checkpoint protein
  • chromosome segregation protein SMC, primarily archaeal type
  • exonuclease SbcC
  • Weak chloroplast movement under blue light
  • Myosin and Kinesin motor domain
  • rad50
  • Myosin tail
  • protein binding
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • Myosin head (motor domain)
  • Alpha helical coiled-coil rod protein (HCR)
  • RecF/RecN/SMC N terminal domain
  • RIM-binding protein of the cytomatrix active zone
  • Intermediate filament protein
  • Apolipoprotein A1/A4/E domain
  • Septation ring formation regulator, EzrA
  • Myosin

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • proximal myopathy and ophthalmoplegia
  • autosomal dominant myopathy
  • squamous-cell carcinoma
  • autosomal recessive congenital myopathy type 6 with ophthalmoplegia
  • papilloma
  • papillomatosis
  • squamous cell cancer
  • myopathy
  • oral submucous fibrosis
  • autosomal dominant congenital myopathy type 6 with ophthalmoplegia
regulated by
  • calcimycin
  • okadaic acid
  • metribolone
  • MYH2
  • IL15
  • DUSP1
  • IFNA2
  • tetradecanoylphorbol acetate
  • Go 6976
  • (S)-FTY720-phosphate
regulates
role in cell
  • morphology
  • assembly
  • repair

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • perinuclear region
  • Plasma Membrane
  • Golgi Apparatus
  • contractile rings
  • myofilaments
  • intercellular junctions
  • sarcomere
  • cytosol
  • myofibrils
  • actin stress fibers
  • cell membrane leading edge

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MYH2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle contraction
  • muscle filament sliding

Cellular Component

Where in the cell the gene product is active
  • cell-cell junction
  • muscle myosin complex
  • cytoplasm
  • myosin II complex
  • myosin filament
  • cytosol
  • macromolecular complex
  • sarcomere
  • myofibril

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • ATP binding
  • calmodulin binding
  • protein binding
  • microfilament motor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.