COL6A3 and GBX2

		COL6A3	GBX2
Description		collagen type VI alpha 3 chain	gastrulation brain homeobox 2
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	Chromatin Nucleus
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity	RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Core Promoter Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity RNA Polymerase II-specific DNA-binding Transcription Factor Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Cell Adhesion Muscle Organ Development Response To UV Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Neuron Apoptotic Process	Branching Involved In Blood Vessel Morphogenesis Neural Crest Cell Migration Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Nervous System Development Axon Guidance Cerebellum Development Midbrain-hindbrain Boundary Morphogenesis Rhombomere 2 Development Thalamus Development Forebrain Neuron Development Cerebellar Granule Cell Precursor Proliferation Hindbrain Development Midbrain-hindbrain Boundary Development Tube Morphogenesis Inner Ear Morphogenesis Positive Regulation Of Transcription By RNA Polymerase II Autonomic Nervous System Development Regulation Of Nervous System Development
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	Formation of the anterior neural plate Formation of the posterior neural plate Specification of the neural plate border
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)	Craniofacial microsomia ( 26853712) Educational attainment (years of education) ( 23722424)
Interacting Genes		2 interacting genes: DYSF MMP2
Entrez ID		1293	2637
HPRD ID		00371	03087
Ensembl ID		ENSG00000163359	ENSG00000168505
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q8N4Z1	F8VY47 P52951
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?			Collagen Type VI Trimer Neuron Apoptotic Process Peptidase Inhibitor Activity Muscle Organ Development Sarcolemma Muscle Structure Development Response To UV Extracellular Matrix Structural Constituent Conferring Tensile Strength Collagen Trimer Response To Carbohydrate Serine-type Endopeptidase Inhibitor Activity Extracellular Vesicle Response To Monosaccharide Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Endoplasmic Reticulum Lumen Response To Light Stimulus
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