DYSF and SLC12A6

Number of citations of the paper that reports this interaction (PubMedID 23414517)
48

Data Source:
BioGRID (two hybrid)

		DYSF	SLC12A6
Description		dysferlin	solute carrier family 12 member 6
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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	Plasma Membrane Membrane Basolateral Plasma Membrane Axon Synapse
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding Lipid Binding Metal Ion Binding	Protein Binding Potassium Ion Transmembrane Transporter Activity Symporter Activity Chloride:monoatomic Cation Symporter Activity Potassium:chloride Symporter Activity Protein Kinase Binding Transmembrane Transporter Activity 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	Angiogenesis Monoatomic Ion Transport Potassium Ion Transport Cell Volume Homeostasis Chemical Synaptic Transmission Chloride Ion Homeostasis Potassium Ion Homeostasis Transmembrane Transport Cellular Response To Glucose Stimulus Cellular Hypotonic Response Cellular Hypotonic Salinity Response Potassium Ion Transmembrane Transport Chloride Transmembrane Transport Potassium Ion Import Across Plasma Membrane
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction	Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
Drugs			Potassium chloride
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)	Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
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)	Barrett's esophagus x pack-years of smoking exposure interaction ( 29551738)
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	3 interacting genes: DYSF OXSR1 STK39
Entrez ID		8291	9990
HPRD ID		04307	09220
Ensembl ID		ENSG00000135636	ENSG00000140199
Uniprot IDs		O75923	Q6NSI7 Q9UHW9
PDB IDs		4CAH 4CAI 4IHB 4IQH 7JOF 7K6B 7KRB 9B8K 9B8L	6M1Y 6M22 6Y5R 6Y5V 7AIN 7AIO 7D90 7NGB
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	Chemokine (C-X-C Motif) Ligand 12 Signaling Pathway Ion Channel Regulator Activity Cellular Hypotonic Response Potassium Channel Inhibitor Activity Hypotonic Response Cellular Response To Chemokine Positive Regulation Of T Cell Chemotaxis Regulation Of T Cell Chemotaxis Cellular Hyperosmotic Response Positive Regulation Of Lymphocyte Chemotaxis Renal Sodium Ion Absorption Negative Regulation Of Potassium Ion Transmembrane Transport Renal Sodium Ion Transport Regulation Of Lymphocyte Chemotaxis Hyperosmotic Response Negative Regulation Of Potassium Ion Transport Positive Regulation Of T Cell Migration Cell Volume Homeostasis Negative Regulation Of Transport Positive Regulation Of Lymphocyte Migration Renal Absorption Cellular Response To Osmotic Stress Regulation Of T Cell Migration Macrophage Activation Regulation Of Potassium Ion Transmembrane Transport Regulation Of Lymphocyte Migration Negative Regulation Of Cation Transmembrane Transport Response To Osmotic Stress Negative Regulation Of Monoatomic Ion Transmembrane Transport Chemokine-mediated Signaling Pathway Regulation Of Cell Size Regulation Of Potassium Ion Transport Positive Regulation Of Mononuclear Cell Migration Positive Regulation Of Leukocyte Chemotaxis Negative Regulation Of Monoatomic Ion Transport Negative Regulation Of Transmembrane Transport Renal System Process Protein Autophosphorylation Monocyte Activation Involved In Immune Response Myeloid Leukocyte Activation Positive Regulation Of Sodium Ion Import Across Plasma Membrane Transmembrane Transporter Binding Positive Regulation Of Chemotaxis Regulation Of Mononuclear Cell Migration Positive Regulation Of Leukocyte Migration Potassium Ion Transmembrane Transport Potassium Ion Transport Sodium Ion Transport Regulation Of Chemotaxis Regulation Of Leukocyte Migration
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