SLC12A6 and DYSF

Data Source:
BioGRID (two hybrid)

		SLC12A6	DYSF
Description		solute carrier family 12 member 6	dysferlin
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GO Annotations	Cellular Component	Plasma Membrane Integral Component Of Plasma Membrane Integral Component Of Membrane Basolateral Plasma Membrane Synapse	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
	Molecular Function	Ammonium Transmembrane Transporter Activity Potassium:chloride Symporter Activity	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding
	Biological Process	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	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
Pathways		Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	Smooth Muscle Contraction Smooth Muscle Contraction
Drugs		Potassium chloride
Diseases		Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)	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		Barrett's esophagus x pack-years of smoking exposure interaction ( 29551738)	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)
Interacting Genes		3 interacting genes: DYSF OXSR1 STK39	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		9990	8291
HPRD ID		09220	04307
Ensembl ID		ENSG00000140199	ENSG00000135636
Uniprot IDs		A0A024R9I5 A0A024R9K8 Q6NSI7 Q9UHW9	O75923
PDB IDs		6M1Y 6M22 6Y5R 6Y5V	4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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