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Desmin

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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Aliases
DES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E
Band
2q35 · 1 C4|1 38.85 cM
Bgee
saphenous vein · apex of heart · gastrocnemius muscle · muscle of thigh · gastric mucosa
BioGPS
More reference expression data
Chr.
Chromosome 2 (human) · Chromosome 1 (mouse)
Databases
NCBI: entry; OMA: entry

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Overview

Structure

Function

Clinical significance

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Map overview Semantic statistics

Desmin

Nodes36
Edges35
Triples122
Avg. degree1.94
Density0.055556
Components1

How this topic connects Entity context

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Desmin

Top relations

Gene ontology · 27
Desmin → cardiac myofibril, cell-cell junction, contractile fiber, cytoplasm, cytoskeletal protein binding, cytoskeleton, cytoskeleton organization, cytosol, extracellular exosome, fascia adherens, identical protein binding, intercalated disc, intermediate filament, intermediate filament cytoskeleton, intermediate filament organization, membrane, muscle contraction, muscle filament sliding, neuromuscular junction, nucleus
Bgee · 19
Desmin → ankle, apex of heart, decidua, digastric muscle, esophagus, gastric mucosa, gastrocnemius muscle, gastrula, left ventricle, medial head of gastrocnemius muscle, muscle layer of sigmoid colon, muscle of thigh, myocardium of left ventricle, right auricle of heart, saphenous vein, sternocleidomastoid muscle, temporal muscle, thoracic diaphragm, triceps brachii muscle
RNA expression pattern · 19
Desmin → ankle, apex of heart, decidua, digastric muscle, esophagus, gastric mucosa, gastrocnemius muscle, gastrula, left ventricle, medial head of gastrocnemius muscle, muscle layer of sigmoid colon, muscle of thigh, myocardium of left ventricle, right auricle of heart, saphenous vein, sternocleidomastoid muscle, temporal muscle, thoracic diaphragm, triceps brachii muscle
related to Function · 12
Desmin → Although, Cardiac, However, In, It, Since, The, These, This, Through, Z-disk, Z-disks
related to Clinical significance · 10
Desmin → A120D, DES, Desmin-related, DRM, Even, In, R127P, Some, The N-terminal, TURBT
related to External links · 7
Desmin → DES, GeneReviews/NIH/NCBI/UW, LOVD, Medicine Medical Subject Headings, MeSH, Myofibrillar MyopathyDesmin, National Library
related to Structure · 5
Desmin → DES, In, The, There, Z-discs
is a · 3
Desmin → muscle-specific, protein that in humans is encoded by the DES gene, subunit of intermediate filaments in cardiac muscle
Band · 2
Desmin → 1 C4|1 38.85 cM, 2q35
Chr. · 2
Desmin → Chromosome 1 (mouse), Chromosome 2 (human)

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Important terminology

des gene muscle protein cardiac human bp chr band function sarcomere chromosome cell intermediate filament mitochondria may mutations mouse head

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
DesminAliasesDES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E1.00infobox
DesminBand2q351.00infobox
DesminBand1 C4|1 38.85 cM1.00infobox
DesminBgeesaphenous vein1.00infobox
DesminBgeeapex of heart1.00infobox
DesminBgeegastrocnemius muscle1.00infobox
DesminBgeemuscle of thigh1.00infobox
DesminBgeegastric mucosa1.00infobox
DesminBgeeright auricle of heart1.00infobox
DesminBgeeleft ventricle1.00infobox
DesminBgeemyocardium of left ventricle1.00infobox
DesminBgeethoracic diaphragm1.00infobox
DesminBgeemuscle layer of sigmoid colon1.00infobox
DesminBgeegastrula1.00infobox
DesminBgeeankle1.00infobox
DesminBgeetriceps brachii muscle1.00infobox
DesminBgeetemporal muscle1.00infobox
DesminBgeeesophagus1.00infobox
DesminBgeemedial head of gastrocnemius muscle1.00infobox
DesminBgeedigastric muscle1.00infobox
DesminBgeesternocleidomastoid muscle1.00infobox
DesminBgeedecidua1.00infobox
DesminBioGPSMore reference expression data1.00infobox
DesminChr.Chromosome 2 (human)1.00infobox
DesminChr.Chromosome 1 (mouse)1.00infobox
DesminDatabasesNCBI: entry; OMA: entry1.00infobox
DesminEnd219,426,734 bp1.00infobox
DesminEnd75,345,223 bp1.00infobox
DesminEnsemblENSG000001750841.00infobox
DesminEntrez16741.00infobox

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