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C1orf216 and DES
Data Source:
BioGRID
(two hybrid)
C1orf216
DES
Description
chromosome 1 open reading frame 216
desmin
Image
No pdb structure
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
Protein Binding
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
)
Interacting Genes
71 interacting genes:
ABI2
AIMP2
AMOT
BORCS6
CCDC136
CCDC158
CCDC197
CDR2
CDR2L
CENPH
CEP170P1
CEP55
CMC2
DES
DMAP1
EIF3F
EXOC5
FSD2
GGA1
HAP1
HAUS8
IFT20
KLHL20
KRT13
KRT15
KRT16
KRT24
KRT27
KRT31
KRT33B
KRT34
KRT36
KRT38
KRT39
KRT40
KRT75
KRT76
LRRC61
MAGEA6
MDFI
MED4
MIS18A
MLPH
MRFAP1L1
MTUS2
MYRIP
NECAB2
NMI
NRBF2
NUP62
ODAD1
PKNOX2
PPP1R16A
PSMC6
RALBP1
SERTAD3
SNW1
SYCE1L
THAP1
TLE5
TMCO5A
TPM1
TPM3
TRAF1
TRIM54
TRIM72
USHBP1
VPS52
WASHC1
ZDHHC17
ZNF620
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
127703
1674
HPRD ID
08798
00514
Ensembl ID
ENSG00000142686
ENSG00000175084
Uniprot IDs
Q8TAB5
P17661
Q53SB5
PDB IDs
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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