COL6A3 and SEPTIN2

		COL6A3	SEPTIN2
Description		collagen type VI alpha 3 chain	septin 2
Image
GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Extracellular Exosome Extracellular Vesicle	Chromosome, Centromeric Region Kinetochore Nucleus Nucleoplasm Chromosome Cytoplasm Spindle Cytoskeleton Plasma Membrane Cilium Axoneme Cell Cortex Septin Ring Cell Surface Actin Cytoskeleton Microtubule Cytoskeleton Membrane Midbody Septin Complex Motile Cilium Cell Division Site Cleavage Furrow Photoreceptor Connecting Cilium Ciliary Transition Zone Cell Projection Intercellular Bridge Synapse Ciliary Membrane Extracellular Exosome Sperm Annulus Non-motile Cilium
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity	Nucleotide Binding GTPase Activity Protein Binding GTP Binding Enzyme Regulator Activity Identical Protein Binding Cadherin Binding Molecular Adaptor 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	Regulation Of L-glutamate Import Across Plasma Membrane Smoothened Signaling Pathway Spermatogenesis Intracellular Protein Localization Cell Differentiation Regulation Of Protein Localization Cell Division 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 ( 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)	Liver enzyme levels (alkaline phosphatase) ( 33972514)
Interacting Genes		12 interacting genes: ALPG CDT1 DYSF GBX2 GFRA3 KCNJ13 MMP2 NGFR PPT1 SEPTIN2 SUDS3 TRIT1	27 interacting genes: ATP6V0D2 BAZ2B CDC42 CEBPA COG4 COL6A3 CSNK2A1 DAZAP2 DSCAM ESR1 FXR1 JPT2 MTOR NGEF PIK3R2 PLEKHF2 RNF31 S100A4 SEPTIN5 SEPTIN6 SEPTIN9 SH3KBP1 SNCA STMN1 STX1A TBC1D21 UBL5
Entrez ID		1293	4735
HPRD ID		00371	03297
Ensembl ID		ENSG00000163359	ENSG00000168385
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q8N4Z1	A0A384N6H6 B5MCX3 Q15019
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK	2QA5 2QAG 2QNR 6UPA 6UPQ 6UPR 7M6J
Enriched GO Terms of Interacting Partners?			Cell Division Site Septin Ring Septin Complex Identical Protein Binding Organelle Organization Regulation Of Stress Fiber Assembly Cytoskeleton-dependent Cytokinesis Regulation Of Autophagy Negative Regulation Of Thrombin-activated Receptor Signaling Pathway Regulation Of Protein-containing Complex Assembly Synaptic Vesicle Positive Regulation Of Cell Growth Regulation Of Intracellular Signal Transduction Cell Differentiation Golgi Transport Complex Protein Destabilization Regulation Of Cytoskeleton Organization SNARE Complex Assembly Neuron Projection Regulation Of Actin Cytoskeleton Organization Positive Regulation Of Catabolic Process Molecular Adaptor Activity Intracellular Protein Localization Negative Regulation Of Microtubule Polymerization Regulation Of Cell Communication Regulation Of Signaling Regulation Of Macroautophagy Regulation Of Signal Transduction Regulation Of Actin Filament-based Process Regulation Of Supramolecular Fiber Organization Regulation Of Neurotransmitter Secretion Regulation Of Organelle Organization Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Regulation Of Plasma Membrane Bounded Cell Projection Organization Positive Regulation Of Neurotransmitter Secretion Regulation Of Cell Projection Assembly Regulation Of Cell Projection Organization Positive Regulation Of Growth Regulation Of Actin Filament Organization Cellular Developmental Process Regulation Of Long-term Neuronal Synaptic Plasticity Regulation Of Cellular Component Organization Positive Regulation Of Lamellipodium Assembly Positive Regulation Of Plasma Membrane Bounded Cell Projection Assembly Protein-containing Complex Negative Regulation Of Intracellular Signal Transduction Intracellular Signal Transduction Negative Regulation Of Protein-containing Complex Assembly Synaptic Vesicle Exocytosis Positive Regulation Of Protein Targeting To Mitochondrion
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?