DES Gene Summary [Human]
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DES |
| Official Name | desmin [Source:HGNC Symbol;Acc:HGNC:2770] |
| Ensembl ID | ENSG00000175084 |
| Bio databases IDs | |
| Aliases | desmin, intermediate filament protein |
| Synonyms | ARVD7, CDCD3, CMD1F, CSM1, CSM2, desmin, LGMD1D, LGMD1E, LGMD2R |
| 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 DES often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aurora b phosphorylation site
- Intermediate filament head (DNA binding) region
- Rho-kinase phosphorylation site
- cytoskeletal protein binding
- structural constituent of cytoskeleton
- alpha helix
- tail domain
- protein binding
- Intermediate filament protein
- identical protein binding
- head domain
Pathways
Biological processes and signaling networks where the DES gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dilated cardiomyopathy 1i
- desmin-related myopathy
- myofibrillar myopathy
- calcinosis
- gastric cancer
- cardiomyopathy
- ulcerative colitis
- dilated cardiomyopathy
- cardiac fibrosis
- lymphomagenesis
role in cell
- expression in
- growth
- quantity
- apoptosis
- phosphorylation in
- proliferation
- organization
- fragmentation
- differentiation
- breakdown
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
- detergent-insoluble fractions
- intermediate filament cytoskeleton
- cytoskeleton
- cilia
- perinuclear region
- Nucleus
- intermediate filaments
- myofilaments
- intercellular junctions
- cytosol
- nuclear envelope
- neuromuscular junctions
- myofibrils
- intercalated disks
- sarcolemma
- Z line
- gap junctions
- cell tip
- cleavage furrow
- membrane processes
- cell-cell adherens junctions
- plasma
- detergent-soluble fraction
- cytoskeletal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DES gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear envelope organization
- cytoskeleton organization
- muscle contraction
- regulation of heart contraction
- skeletal muscle organ development
- intermediate filament organization
Cellular Component
Where in the cell the gene product is active
- intermediate filament
- nuclear envelope
- Z disc
- nucleus
- cell-cell junction
- extracellular vesicular exosome
- cell tip
- intermediate filament cytoskeleton
- fascia adherens
- sarcolemma
- intercalated disc
- cytosol
- neuromuscular junction
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- structural constituent of cytoskeleton
- cytoskeletal protein binding