Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
CDCD3,CSM1,CSM2,LGMD1D,LGMD1E,LGMD2R
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1674
MIM: 125660
HGNC: 2770
Ensembl: ENSG00000175084
Variants:
dbSNP: 1674
ClinVar: 1674
TCGA: ENSG00000175084
COSMIC: DES
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175084 | ENST00000373960 | P17661 |
| ENSG00000175084 | ENST00000373960 | Q53SB5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37827485 | 2024 | Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles? | 0 |
| 38167524 | 2024 | Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation. | 0 |
| 38247853 | 2024 | Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. | 0 |
| 38607042 | 2024 | Unraveling Desmin's Head Domain Structure and Function. | 1 |
| 38824194 | 2024 | Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants. | 0 |
| 37827485 | 2024 | Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles? | 0 |
| 38167524 | 2024 | Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation. | 0 |
| 38247853 | 2024 | Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. | 0 |
| 38607042 | 2024 | Unraveling Desmin's Head Domain Structure and Function. | 1 |
| 38824194 | 2024 | Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants. | 0 |
| 35675837 | 2023 | A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings. | 1 |
| 35675837 | 2023 | A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings. | 1 |
| 33825342 | 2022 | New roles for desmin in the maintenance of muscle homeostasis. | 33 |
| 36221331 | 2022 | The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study. | 0 |
| 36497166 | 2022 | The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly. | 4 |
Citation
Dessen P
DES (desmin)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50579/des
