COL6A3 and KCNJ13

Data Source:
BioGRID (genetic interference)

		COL6A3	KCNJ13
Description		collagen type VI alpha 3 chain	potassium inwardly rectifying channel subfamily J member 13
Image			No pdb structure
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	Plasma Membrane Integral Component Of Membrane
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength	Inward Rectifier Potassium Channel Activity
	Biological Process	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization	Potassium Ion Transport Regulation Of Ion Transmembrane Transport Potassium Ion Import Across Plasma Membrane
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
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	Leber congenital amaurosis (LCR) Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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)	Anxiety and stress-related disorders ( 31116379) Autism spectrum disorder or schizophrenia ( 28540026) Coronary artery disease ( 29212778) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Schizophrenia ( 25056061 29483656 23974872)
Interacting Genes		2 interacting genes: DYSF MMP2
Entrez ID		1293	3769
HPRD ID		00371	04441
Ensembl ID		ENSG00000163359	ENSG00000115474
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1	O60928
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?
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