DYSF

Description		dysferlin
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GO Annotations	Cellular Component	Nucleus Endosome Early Endosome Late Endosome Golgi Apparatus Microtubule Plasma Membrane Integral Component Of Membrane Lamellipodium Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Centriolar Satellite Sarcolemma Extracellular Exosome Membrane Microdomain
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding Microtubule Binding Alpha-tubulin Binding
	Biological Process	Angiogenesis Plasma Membrane Repair Positive Regulation Of Endothelial Cell Proliferation Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Glycerol Metabolic Process Vesicle Fusion Muscle Contraction Plasma Membrane Organization Negative Regulation Of Gene Expression Lipid Storage T-tubule Organization Negative Regulation Of Protein Catabolic Process Skeletal Muscle Tissue Regeneration Fat Cell Differentiation Positive Regulation Of Cell Adhesion Muscle Fiber Development Cytokine Secretion Negative Regulation Of Phagocytosis Membrane Fusion Cellular Response To Osmotic Stress Positive Regulation Of Neutrophil Chemotaxis Regulation Of Calcium Ion Import Negative Regulation Of High Voltage-gated Calcium Channel Activity Negative Regulation Of Protein Polyubiquitination
Pathways		Smooth Muscle Contraction Smooth 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) Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD)
GWAS		Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134) PR interval in Tripanosoma cruzi seropositivity ( 24324551) Protein quantitative trait loci ( 18464913) Urate levels in overweight individuals ( 25811787)
Interacting Genes		4 interacting genes: ANXA1 ANXA2 CAPN3 CAV3
Entrez ID		8291
HPRD ID		04307
Ensembl ID		ENSG00000135636
Uniprot IDs		O75923
PDB IDs		4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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