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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]
DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Scapuloperoneal Syndrome, Neurogenic, Kaeser Type. Among its related pathways are Dilated cardiomyopathy (DCM) and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is VIM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005200 | structural constituent of cytoskeleton | TAS | 9736733 |
GO:0005515 | protein binding | IPI | 11353857 |
GO:0008092 | cytoskeletal protein binding | IPI | 11309420 |
GO:0042802 | identical protein binding | IPI | 21135508 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005882 | intermediate filament | TAS,IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
2 | Dilated cardiomyopathy (DCM) | ||
3 | Striated Muscle Contraction | ||
4 | Cytoskeletal Signaling | ||
5 | Mesenchymal Stem Cells and Lineage-specific Markers |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | 9697706 |
GO:0007010 | cytoskeleton organization | TAS | 9736733 |
GO:0008016 | regulation of heart contraction | TAS | 9697706 |
GO:0030049 | muscle filament sliding | TAS | -- |
GO:0045109 | intermediate filament organization | IMP | 24200904 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DES 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DES 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DES 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DES 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DES 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Des 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Des 30 |
|
||
Chicken (Gallus gallus) |
Aves | DES 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DES 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | des.1 30 |
|
||
MGC75911 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | des-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | desmb 31 |
|
OneToMany | |
desma 31 |
|
OneToMany | |||
desm 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8472 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14901 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
201708 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,421,521(+) | T/C | MISSENSE_VARIANT | |
201717 | Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,418,695(+) | G/T | MISSENSE_VARIANT | |
636840 | Uncertain Significance: not provided | 219,418,794(+) | A/G | MISSENSE_VARIANT | |
639517 | Likely Pathogenic: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,423,821(+) | G/A | SPLICE_DONOR_VARIANT | |
639669 | Pathogenic: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R | 219,421,553(+) | G/T | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, myofibrillar, 1 |
|
|
scapuloperoneal syndrome, neurogenic, kaeser type |
|
|
cardiomyopathy, dilated, 1i |
|
|
neuromuscular disease |
|
|
dilated cardiomyopathy |
|