AlphaFold predicted structure
DES · P17661
Mean pLDDT
76.6/ 100
Confident
470 residues
Confidence breakdown
- Very high(≥ 90)54%
- Confident(70–90)14%
- Low(50–70)6%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DES
Chr 2q35desmin
- Aliases:
- CMD1I, CSM1, CSM2, LGMD2R
- MANE:
- ENST00000373960.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDistal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGastrointestinal neuromuscular disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalProgressive cardiac conduction disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Disease associations (Open Targets)
myofibrillar myopathy 1
0.85Desminopathy
0.84dilated cardiomyopathy 1I
0.80neurogenic scapuloperoneal syndrome, Kaeser type
0.74Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
0.67familial isolated dilated cardiomyopathy
0.67Scapuloperoneal amyotrophy
0.66myofibrillar myopathy
0.64dilated cardiomyopathy
0.62cardiomyopathy
0.58
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Desmin
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). 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 (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (By similarity). Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity)
Diseases associated with DES
Curated MONDO disease pages that list DES among their top associated genes.