InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DES

Summary

InnateDB Protein

IDBP-81711.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DES

Protein Name

desmin

Synonyms

CSM1; CSM2; LGMD2R;

Species

Homo sapiens

Ensembl Protein

ENSP00000363071

InnateDB Gene

IDBG-81709 (DES)

Protein Structure

UniProt Annotation

Function

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures.

Subcellular Localization

Cytoplasm.

Disease Associations

Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A neuromuscular disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269PubMed:10545598, ECO:0000269PubMed:10717012, ECO:0000269PubMed:10905661, ECO:0000269PubMed:11061256, ECO:0000269PubMed:11668632, ECO:0000269PubMed:12620971, ECO:0000269PubMed:12766977, ECO:0000269PubMed:14648196, ECO:0000269PubMed:14711882, ECO:0000269PubMed:15800015, ECO:0000269PubMed:16009553, ECO:0000269PubMed:16865695, ECO:0000269PubMed:17221859, ECO:0000269PubMed:18061454, ECO:0000269PubMed:19879535, ECO:0000269PubMed:20829228, ECO:0000269PubMed:22106715, ECO:0000269PubMed:22395865, ECO:0000269PubMed:9697706, ECO:0000269PubMed:9736733}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269PubMed:19879535}.Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:10430757}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269PubMed:17439987}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-girdle muscular dystrophy 2R (LGMD2R) [MIM:615325]: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269PubMed:23687351}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	43 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0042802	identical protein binding

Biological Process

GO:0006936	muscle contraction
GO:0007010	cytoskeleton organization
GO:0008016	regulation of heart contraction
GO:0030049	muscle filament sliding

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005882	intermediate filament
GO:0005916	fascia adherens
GO:0030018	Z disc
GO:0031594	neuromuscular junction
GO:0042383	sarcolemma
GO:0043292	contractile fiber