COL6A3 and KCNJ13

		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 Trimer Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Extracellular Exosome Extracellular Vesicle	Plasma Membrane Membrane Monoatomic Ion Channel Complex
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity	Inward Rectifier Potassium Channel Activity
	Biological Process	Cell Adhesion Muscle Organ Development Response To UV Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Neuron Apoptotic Process	Monoatomic Ion Transport Potassium Ion Transport Monoatomic Ion Transmembrane Transport Regulation Of Monoatomic 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 ( 33020668 29212778 30402224) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Height ( 33713608) 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 ( 23974872 25056061 29483656)
Interacting Genes		12 interacting genes: ALPG CDT1 DYSF GBX2 GFRA3 KCNJ13 MMP2 NGFR PPT1 SEPTIN2 SUDS3 TRIT1	2 interacting genes: COL6A3 SLC25A17
Entrez ID		1293	3769
HPRD ID		00371	04441
Ensembl ID		ENSG00000163359	ENSG00000115474
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q8N4Z1	O60928
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?			Collagen Type VI Trimer FMN Transmembrane Transporter Activity AMP Transport Coenzyme A Transmembrane Transport Coenzyme A Transmembrane Transporter Activity NAD Transmembrane Transport FAD Transmembrane Transporter Activity FAD Transmembrane Transport ADP Transmembrane Transporter Activity AMP Transmembrane Transporter Activity NAD Transmembrane Transporter Activity Adenine Nucleotide Transmembrane Transporter Activity NAD Transport Fatty Acid Alpha-oxidation ATP Transmembrane Transporter Activity ADP Transport ATP Transport Nucleotide Transmembrane Transport Purine-containing Compound Transmembrane Transport Purine Nucleotide Transport Adenine Nucleotide Transport Extracellular Matrix Structural Constituent Conferring Tensile Strength Nucleotide Transport Fatty Acid Beta-oxidation Peroxisomal Membrane Collagen Trimer Serine-type Endopeptidase Inhibitor Activity Extracellular Vesicle Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Fatty Acid Catabolic Process Fatty Acid Transport Organic Cation Transport Fatty Acid Oxidation Carbohydrate Derivative Transport Lipid Oxidation Antiporter Activity Protein-folding Chaperone Binding Neuron Apoptotic Process Peptidase Inhibitor Activity Sarcolemma Muscle Organ Development Muscle Structure Development Response To Monosaccharide Response To Glucose Amide Transport Lipid Modification Peroxisome Monocarboxylic Acid Transport Organophosphate Ester Transport Response To UV
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?