MYOT

Gene Name		myotilin
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Gene Ontology Annotations	Cellular Component	Actin Cytoskeleton Z Disc Sarcolemma
	Molecular Function	Actin Binding Protein Binding Structural Constituent Of Muscle Alpha-actinin Binding
	Biological Process	Muscle Contraction
Pathways
Drugs
Diseases
GWAS		Heart rate ( 23583979)
Protein-protein Interactions		12 interactors: ACTN1 APP AXIN1 FLNA FLNC GPRASP2 LRP12 NME7 ST7 TFG TRIM55 TRIM63
Entrez ID		9499
HPRD ID		04981
Ensembl ID		ENSG00000120729
Uniprot IDs		B4DT68 Q9UBF9
PDB IDs		2KDG 2KKQ
Enriched GO Terms of Interacting Partners?		Platelet Degranulation Actin Crosslink Formation Signal Transduction Signaling Platelet Activation Cell Junction Assembly Cell Communication Response To Stimulus Receptor Clustering Vesicle-mediated Transport Microtubule-based Process Cellular Response To Stimulus Exocytosis Wnt-activated Signaling Pathway Involved In Forebrain Neuron Fate Commitment Canonical Wnt Signaling Pathway Involved In Neural Plate Anterior/posterior Pattern Formation Blood Coagulation Hemostasis Synaptic Growth At Neuromuscular Junction Cellular Component Assembly Determination Of Left/right Symmetry Establishment Of Localization In Cell Determination Of Bilateral Symmetry Collateral Sprouting In Absence Of Injury Axial Mesoderm Formation Secretion By Cell Microtubule-based Transport Response To Electrical Stimulus Involved In Regulation Of Muscle Adaptation Protein Localization To Tight Junction Cytoskeleton-dependent Intracellular Transport Regulation Of Body Fluid Levels Neural Plate Anterior/posterior Regionalization Ciliary Receptor Clustering Involved In Smoothened Signaling Pathway Collateral Sprouting Axon Midline Choice Point Recognition Wound Healing Regulation Of Growth Transport Secretion Skeletal Muscle Atrophy Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Axial Mesoderm Morphogenesis Olfactory Placode Formation Regulation Of Protein Import Into Nucleus Muscle Cell Development Cellular Localization Endocytosis Positive Regulation Of I-kappaB Kinase/NF-kappaB Signaling Striated Muscle Atrophy Axon Choice Point Recognition Cell Activation
Tagcloud ?		bag3 causative cryab desmin disorganizations dnajb6 encode fhl1 flnc focal hereditary hmerf hyaline inclusions mfm muscles myofibril myofibrillar myopathy name pathologically pathomechanisms quite spheroid summarized ttn unexpectedly vcp zasp