DYSF and SLC12A6

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 Integral Component Of Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Centriolar Satellite Sarcolemma Extracellular Exosome	Plasma Membrane Integral Component Of Plasma Membrane Integral Component Of Membrane Basolateral Plasma Membrane Synapse
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding	Ammonium Transmembrane Transporter Activity Potassium:chloride Symporter Activity
	Biological Process	Plasma Membrane Repair Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Vesicle Fusion Muscle Contraction Plasma Membrane Organization T-tubule Organization Negative Regulation Of Phagocytosis Membrane Fusion	Angiogenesis Ion Transport Cell Volume Homeostasis Chemical Synaptic Transmission Chloride Ion Homeostasis Potassium Ion Homeostasis Cellular Hypotonic Salinity Response Ammonium Import Across Plasma Membrane 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		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)	Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
GWAS		Asthma ( 32296059) 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)	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	A0A024R9I5 A0A024R9K8 Q6NSI7 Q9UHW9
PDB IDs		4CAH 4CAI 4IHB 4IQH	6M1Y 6M22 6Y5R 6Y5V
Enriched GO Terms of Interacting Partners?
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