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DES
Description
desmin
Image
No pdb structure
GO Annotations
Cellular Component
Nucleus
Cytosol
Intermediate Filament
Fascia Adherens
Intercalated Disc
Z Disc
Neuromuscular Junction
Sarcolemma
Intermediate Filament Cytoskeleton
Extracellular Exosome
Cardiac Myofibril
Molecular Function
Structural Constituent Of Cytoskeleton
Protein Binding
Cytoskeletal Protein Binding
Identical Protein Binding
Biological Process
Muscle Contraction
Cytoskeleton Organization
Regulation Of Heart Contraction
Muscle Filament Sliding
Intermediate Filament Organization
Pathways
Striated Muscle Contraction
Drugs
Diseases
Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy
Scapuloperoneal myopathy (SPM)
Dilated cardiomyopathy (DCM)
GWAS
Electrocardiogram morphology (amplitude at temporal datapoints) (
32916098
)
Resting heart rate (
27798624
)
Novel Interacting Genes
3 novel interacting genes:
ATIC
B4GALT2
DDX10
Interacting Genes
60 interacting genes:
AURKB
BAG5
BRCA1
C1orf216
CAPN1
CLIP4
CRYAB
CT55
CWF19L2
DDX6
DSP
DUX1
DUX4
EHHADH
ENO1
GFAP
GOLGA6L9
HSPB1
ITSN1
KRT13
KRT15
KRT20
KRT33B
KRT37
KRT75
LBX1
LENG1
LMO4
LONRF3
M1AP
MAPKAPK2
NEB
NEFL
NEK6
PIAS2
PIH1D2
PKD1
PLEKHA5
POLR2G
PPL
PPP1R18
PRPH
RNF4
ROCK1
S100A1
S100B
SHBG
SNAPIN
SPTAN1
SYNC
SYNM
TCEA2
TFIP11
TRIM55
TRIM63
TRIM7
UBE2I
VIM
YES1
ZMYM5
Entrez ID
1674
HPRD ID
00514
Ensembl ID
ENSG00000175084
Uniprot IDs
P17661
Q53SB5
PDB IDs
Enriched GO Terms of Interacting Partners
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