DES (Desmin) Gene
Key Intermediate Filament Protein in Muscle Cells
Gene Information Card
| Symbol | DES |
|---|---|
| Full Name | Desmin |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 1674 ncbi.nlm.nih.gov/gene/1674 |
| Ensembl ID | ENSG00000175084 |
| UniProt ID | P17661 |
| OMIM ID | 125660 |
| HGNC ID | 2770 |
| Aliases | CMD1I, CSM1, CSM2, DESM, FLJ12025, FLJ39719, FLJ41043, FLJ41793 |
Description
The DES gene encodes desmin, a type III intermediate filament protein essential for the structural integrity and mechanical function of muscle cells. Desmin forms a scaffold that connects the contractile apparatus to the sarcolemma and organelles, maintaining cellular architecture in cardiac, skeletal, and smooth muscle. Mutations in DES cause desmin-related myopathy and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Desmin-related myopathy (DRM) | Aggregation of mutant desmin disrupts intermediate filament network, leading to muscle fiber degeneration | ClinVar, OMIM |
| Dilated cardiomyopathy 1I (CMD1I) | Loss of desmin integrity impairs force transmission and sarcomere alignment in cardiac muscle | ClinVar, OMIM |
| Myofibrillar myopathy 1 (MFM1) | Accumulation of desmin aggregates within myofibrils causes progressive muscle weakness | ClinVar, OMIM |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | Desmin mutations may disrupt intercalated disc stability, predisposing to arrhythmias | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 68.5 | High |
| Skeletal muscle | 55.2 | High |
| Smooth muscle | 12.3 | Medium |
| Lung | 0.8 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 72.1 | High expression |
| Skeletal muscle myoblasts (HSMM) | 48.9 | High expression |
| Smooth muscle cells (HASMC) | 15.4 | Moderate expression |
| Fibroblasts (HFF-1) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1360C>T (p.Arg454Trp) | Missense | Rare | Dominant negative; causes desmin aggregation |
| c.1289G>A (p.Arg430Gln) | Missense | Rare | Impaired filament assembly |
| c.1024A>G (p.Asn342Asp) | Missense | Rare | Loss of filament integrity |
| c.735+1G>A | Splice site | Rare | Exon skipping, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Rare; complete loss of desmin leads to severe myopathy in knockout models.
Gain of Function (GOF)
Not typically described; most mutations are dominant negative.
Dominant Negative (DN)
Common mechanism; mutant desmin incorporates into filaments and disrupts network, causing aggregates.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Muscle contraction (Reactome: R-HSA-397014)
• Cardiac conduction (Reactome: R-HSA-5576891)
Protein Summary
Desmin is a 470-amino acid type III intermediate filament protein that forms homopolymers and heteropolymers with other intermediate filaments. It is highly expressed in cardiac, skeletal, and smooth muscle, where it links Z-discs to the sarcolemma and organelles, providing mechanical stability. Mutations cause protein aggregation and muscle disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DES Knockout HEK293 Cell Line | EDJ-KQ3759 | Human | 1674 | Details Get a Quote |
| DESI1 Knockout HEK293 Cell Line | EDJ-KQ8778 | Human | 27351 | Details Get a Quote |
| DESI1 Knockout A-549 Cell Line | EDJ-KQ35049 | Human | 27351 | Details Get a Quote |
| DESI1 Knockout HeLa Cell Line | EDJ-KQ35050 | Human | 27351 | Details Get a Quote |
| DES Knockout HCT 116 Cell Line | EDJ-KQ25840 | Human | 1674 | Details Get a Quote |
| DES Knockout HeLa Cell Line | EDJ-KQ25841 | Human | 1674 | Details Get a Quote |
| DESI1 Knockout HCT 116 Cell Line | EDJ-KQ33797 | Human | 27351 | Details Get a Quote |
| DESI2 Knockout HEK293 Cell Line | EDJ-KQ51273 | Human | 51029 | Details Get a Quote |
| DESI2 Knockout HeLa Cell Line | EDJ-KQ56214 | Human | 51029 | Details Get a Quote |
| DES Knockout A-549 Cell Line | EDJ-KQ61554 | Human | 1674 | Details Get a Quote |
| DESI2 Knockout A-549 Cell Line | EDJ-KQ64705 | Human | 51029 | Details Get a Quote |
| DESI2 Knockout HCT 116 Cell Line | EDJ-KQ73151 | Human | 51029 | Details Get a Quote |
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