Gene
DES
desmin
- HGNC 2770(opens in a new tab)
- Ensembl gene ENSG00000175084(opens in a new tab)
- NCBI Gene 1674(opens in a new tab)
Summary
- Cytogenetic location
- 2q35
- Coordinates
- Chromosome 2: 219,418,377–219,426,734 (GRCh38)
- Exons
- 9 exons across 8.4 kb
- Protein
- 470 amino acids
- Also known as
- CMD1I, CSM1, CSM2, LGMD2R
- MANE Select transcript
- ENST00000373960.4NM_001927.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Arrhythmogenic Cardiomyopathy
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
What knowing changes
A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.
Progressive Cardiac Conduction Disease & Sick Sinus Syndrome
- Cardiac Conduction Defect
A general term for disorders of electrical conduction in the heart, including inherited forms of atrioventricular block.
- 1 GenCC submitter rates it definitive or strong
Dilated Cardiomyopathy
Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Myofibrillar Myopathies
- Myofibrillar myopathy
A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.
How DES is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 8.4 kb; 1,413 of those bases code for the protein.
How a genome test reads DES
119
positions in DES where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 8.4 kb of DES, introns included, not only the 2.2 kb of exons.
Variants with a page (26)
The DES variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1A>G | Exon 1 | 219,418,463 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+1G>A | Intron 3 | 219,420,347 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+1G>C | Intron 3 | 219,420,347 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.735+3A>G | Intron 3 | 219,420,349 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1288+1G>A | Intron 7 | 219,423,821 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E108X | c.322G>T | Exon 1 | 219,418,784 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E245D | c.735G>C | Exon 3 | 219,420,346 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G456R | c.1366G>A | Exon 8 | 219,425,740 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H384R | c.1151A>G | Exon 6 | 219,421,467 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K449T | c.1346A>C | Exon 8 | 219,425,720 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to DES
The Human Phenotype Ontology lists these as features of the rare conditions DES can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Axial muscle weakness
- Progressive muscle weakness
- Scapuloperoneal weakness
- Decreased lung function due to weak breathing muscles
- Fatigable weakness of respiratory muscles
- Rimmed vacuoles
- Z-band streaming
- EMG abnormality
Show 11 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DES gene: desmin. Retrieved 17 October 2026, from https://dantelabs.com/genes/des
Dante Labs. DES gene: desmin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/des
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