Desmin

DES
Identifiers
Aliases	DES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E
External IDs	OMIM: 125660 MGI: 94885 HomoloGene: 56469 GeneCards: DES
Gene location (Human)
Chr.	Chromosome 2 (human)
End	219,426,734 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,345,223 bp
RNA expression pattern
	Top expressed in
	saphenous vein; ; gastrocnemius muscle; ; gastric mucosa; ; left ventricle; ; thoracic diaphragm; ; left uterine tube; ; body of tongue; ; gallbladder; ; urethra; ; tibialis anterior muscle;
	Top expressed in
	ankle; ; triceps brachii muscle; ; temporal muscle; ; esophagus; ; digastric muscle; ; sternocleidomastoid muscle; ; right ventricle; ; intercostal muscle; ; lip; ; quadriceps femoris muscle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; structural constituent of cytoskeleton; identical protein binding; structural molecule activity; cytoskeletal protein binding;
Cellular component	intercalated disc; sarcolemma; intermediate filament cytoskeleton; cytoplasm; contractile fiber; cytosol; neuromuscular junction; membrane; Z disc; plasma membrane; fascia adherens; cytoskeleton; extracellular exosome; intermediate filament; cell-cell junction; cardiac myofibril; nucleus;
Biological process	muscle contraction; intermediate filament organization; cytoskeleton organization; muscle filament sliding; regulation of heart contraction;
	Sources:Amigo / QuickGO
Orthologs
	1674
	13346
	ENSG00000175084
	ENSMUSG00000026208
	P17661
	P31001
	NM_001927
	NM_010043
NP_001918; NP_001369637; NP_001369638; NP_001369639; NP_001369640;
	NP_001369641; NP_001369642
	NP_034173
	Wikidata
View/Edit Human	View/Edit Mouse

Desmin is a protein that in humans is encoded by the DES gene. Desmin is a muscle-specific, type III intermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture.

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