COL6A3 and SEPTIN2

Data Source:
BioGRID (genetic interference)

		COL6A3	SEPTIN2
Description		collagen type VI alpha 3 chain	septin 2
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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	Exocyst Condensed Chromosome Kinetochore Nucleus Nucleoplasm Cytoplasm Spindle Plasma Membrane Axoneme Cell Cortex Septin Ring Synaptic Vesicle Actin Cytoskeleton Microtubule Cytoskeleton Midbody Septin Complex Cell Division Site Cleavage Furrow Photoreceptor Connecting Cilium Intercellular Bridge Perinuclear Region Of Cytoplasm Ciliary Membrane Extracellular Exosome Sperm Annulus Non-motile Cilium
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength	GTPase Activity Protein Binding GTP Binding Cadherin Binding Molecular Adaptor Activity
	Biological Process	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization	Smoothened Signaling Pathway Spermatogenesis Regulation Of Exocytosis Neuron Projection Development Cellular Protein Localization Cilium Assembly Cytoskeleton-dependent Cytokinesis
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	Anchoring of the basal body to the plasma membrane
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
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)
Interacting Genes		2 interacting genes: DYSF MMP2	21 interacting genes: ATP6V0D2 BAZ2B CDC42 COG4 CSNK2A1 DAZAP2 ESR1 JPT2 MTOR PIK3R2 PLEKHF2 RNF31 S100A4 SEPTIN5 SEPTIN6 SEPTIN9 SH3KBP1 STMN1 STX1A TBC1D21 UBL5
Entrez ID		1293	4735
HPRD ID		00371	03297
Ensembl ID		ENSG00000163359	ENSG00000168385
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1	A0A384N6H6 Q15019
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK	2QA5 2QAG 2QNR 6UPA 6UPQ 6UPR
Enriched GO Terms of Interacting Partners?
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