DYSF

Description		dysferlin
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GO Annotations	Cellular Component	Endosome Early Endosome Late Endosome Plasma Membrane Endomembrane System Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Late Endosome Membrane Centriolar Satellite Sarcolemma Extracellular Exosome
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding Lipid Binding Metal Ion Binding
	Biological Process	Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Regulation Of Neurotransmitter Secretion Negative Regulation Of Phagocytosis
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction
Drugs
Diseases		Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD) 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)
GWAS		Appendicular lean mass ( 33097823) Asthma ( 32296059) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196 34021172) 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		40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23
Entrez ID		8291
HPRD ID		04307
Ensembl ID		ENSG00000135636
Uniprot IDs		O75923
PDB IDs		4CAH 4CAI 4IHB 4IQH 7JOF 7K6B 7KRB 9B8K 9B8L
Enriched GO Terms of Interacting Partners?		Sarcomere Organization Myosin Filament M Band Actin Cytoskeleton Organization Actomyosin Structure Organization Muscle Organ Development Actin Filament-based Process Muscle Structure Development Structural Constituent Of Muscle Cellular Response To Salt Stress Titin Binding Myofibril Sarcolemma Cytoskeleton Organization Response To Salt Stress Extraocular Skeletal Muscle Development Organelle Organization Positive Regulation Of Transport Vesicle Membrane Kinase Binding Phospholipase A2 Inhibitor Activity Phospholipase Inhibitor Activity Cellular Response To Osmotic Stress Z Disc Phosphatidylserine Binding Membrane Raft Assembly Cytoplasmic Side Of Lysosomal Membrane Positive Regulation Of Endocytosis Response To Osmotic Stress Anterograde Synaptic Vesicle Transport Cadherin Binding Involved In Cell-cell Adhesion Translation Elongation Factor Activity Positive Regulation Of Vesicle Fusion Skeletal Muscle Organ Development Regulation Of Protein Localization Retrograde Axonal Transport
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