MYOZ2 Gene Summary [Human]
The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | MYOZ2 |
| Official Name | myozenin 2 [Source:HGNC Symbol;Acc:HGNC:1330] |
| Ensembl ID | ENSG00000172399 |
| Bio databases IDs | |
| Aliases | myozenin 2, calsarcin-1 |
| Synonyms | 1110012I24Rik, C4orf5, CMH16, CS-1, FATZ-2, myozenin 2, Myozl2 |
| Species | Human, Homo sapiens |
| Orthologies |
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 MYOZ2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calcineurin-binding protein (Calsarcin)
- cytoskeletal protein binding
- actin binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hypertrophic cardiomyopathy
- metastatic colorectal cancer
- familial hypertrophic cardiomyopathy type 16
- rotator cuff injury
- Huntington disease
role in cell
- quantity
- expression in
- hypertrophy
- organization
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
- actin cytoskeleton
- myofilaments
- sarcomere
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYOZ2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- skeletal muscle tissue development
- negative regulation of calcineurin-NFAT signaling cascade
- sarcomere organization
- skeletal muscle fiber adaptation
Cellular Component
Where in the cell the gene product is active
- Z disc
- actin cytoskeleton
- sarcomere
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- FATZ binding
- telethonin binding
- protein phosphatase 2B binding