COL6A3 and DYSF

Data Source:
BioGRID (two hybrid)

		COL6A3	DYSF
Description		collagen type VI alpha 3 chain	dysferlin
Image
GO Annotations	Cellular Component	Extracellular Region Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle	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	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding
	Biological Process	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization	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		Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions Collagen chain trimerization	Smooth Muscle Contraction Smooth Muscle Contraction
Drugs
Diseases		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy	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		Abstraction and mental flexibility ( 31596458) Aging (time to event) ( 21782286) Chronic kidney disease ( 30226566) Coronary artery disease ( 29212778 30402224 33020668) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Hypertension ( 30226566) Intraocular pressure ( 29617998 29235454) Ischemic stroke ( 29930801) LDL cholesterol ( 26160806) Lung cancer ( 28604730) Myocardial infarction ( 30226566) Pulse pressure ( 27841878)	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		2 interacting genes: DYSF MMP2	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		1293	8291
HPRD ID		00371	04307
Ensembl ID		ENSG00000163359	ENSG00000135636
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1	O75923
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK	4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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