MYOF

Description		myoferlin
Image
GO Annotations	Cellular Component	Nucleus Nuclear Envelope Plasma Membrane Caveola Cilium Membrane Cytoplasmic Vesicle Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Late Endosome Membrane Nuclear Membrane Centriolar Satellite Ciliary Basal Body Extracellular Exosome
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Metal Ion Binding
	Biological Process	Plasma Membrane Repair Muscle Contraction Blood Circulation Regulation Of Neurotransmitter Secretion
Pathways
Drugs
Diseases
GWAS		Apolipoprotein B levels ( 32203549) Glaucoma ( 30054594) Glaucoma (primary open-angle) ( 33627673 29449654) HDL cholesterol levels ( 30698716) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Intraocular pressure ( 29785010 30054594 29617998 29235454) LDL cholesterol levels in current drinkers ( 30698716) LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Open-angle glaucoma and vertical cup-disc ratio ( 29449654) Platelet count ( 29403010) Serum total protein levels ( 29403010) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Triglyceride levels ( 30698716) Triglyceride levels in current drinkers ( 30698716) Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Type 2 diabetes ( 32499647) Vertical cup-disc ratio (multi-trait analysis) ( 31959993)
Interacting Genes		1 interacting genes: PTEN
Entrez ID		26509
HPRD ID		06857
Ensembl ID		ENSG00000138119
Uniprot IDs		Q9NZM1
PDB IDs		2DMH 2K2O 6EEL
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Synaptic Vesicle Clustering Phosphatidylinositol-3,4-bisphosphate 3-phosphatase Activity Negative Regulation Of Keratinocyte Migration Inositol-1,3,4,5-tetrakisphosphate 3-phosphatase Activity Inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase Activity Central Nervous System Myelin Maintenance Rhythmic Synaptic Transmission Locomotor Rhythm Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase Activity Myelin Sheath Adaxonal Region Cellular Response To Electrical Stimulus Ubiquitin Ligase Activator Activity Spindle Assembly Involved In Female Meiosis Negative Regulation Of Peptidyl-serine Phosphorylation Regulation Of Synaptic Vesicle Clustering Postsynaptic Specialization Assembly Negative Regulation Of Wound Healing, Spreading Of Epidermal Cells Neuron-neuron Synaptic Transmission Phosphatidylinositol Phosphate Phosphatase Activity Negative Regulation Of Cell Size Presynaptic Membrane Organization Schmidt-Lanterman Incisure Anaphase-promoting Complex Binding Postsynaptic Density Assembly Forebrain Morphogenesis Negative Regulation Of Excitatory Postsynaptic Potential Presynaptic Membrane Assembly Phosphatidylinositol-3-phosphate Phosphatase Activity Prepulse Inhibition Meiotic Spindle Assembly Maternal Behavior Myelin Maintenance Parental Behavior Synapse Maturation Negative Regulation Of Epithelial Cell Migration Postsynaptic Density Organization Negative Regulation Of Focal Adhesion Assembly Dendritic Spine Morphogenesis Ubiquitin-specific Protease Binding Circadian Behavior Meiotic Spindle Organization Phosphatidylinositol Dephosphorylation Rhythmic Behavior Negative Regulation Of Cellular Senescence Postsynaptic Specialization Organization Dentate Gyrus Development Regulation Of Peptidyl-serine Phosphorylation Positive Regulation Of Excitatory Postsynaptic Potential Dendritic Spine Organization Central Nervous System Neuron Axonogenesis
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