gene 1,159 words KG: DES
Contents

DES Gene

🧬 Gene Info
Gene SymbolDES
Full NameDesmin
Chromosome2q35
Functionis a critical structural component of muscle cells[@paulin2004].
Molecular Weight53 kDa
Amino Acids470 aa
PathwaysAngiogenesis, Apoptosis, Autophagy, Ferroptosis, Necroptosis
UniProt IDP17661
NCBI Gene ID1674
Ensembl IDENSG00000175084
OMIM125660
GeneCardsDES
Human Protein AtlasDES
N-terminal head domain (residues 1-99)Contains phosphorylation sites and regulates filament assembly
Central rod domain (residues 100-411)Consists of four alpha-helical segments (1A, 1B, 2A, 2B) separated by linkers, responsible for dimerization and filament assembly
Associated DiseasesAging, Als, Alzheimer, Cancer, Cardiac, Cardiovascular
InteractionsAGING, AMPK, AND, APOPTOSIS, App, AUTOPHAGY
KG Connections190 knowledge graph edges
DatabasesGeneCardsHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (12 edges)

MCU activates DES
SLC7A11 activates DES
BECN1 activates DES
DES activates MCU
DES activates BECN1
DES activates SLC7A11
DES causes myofibrillar myopathy
ABCB1 associated_with DES
DES associated_with CYP2D6
FAS interacts_with DES

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