COL6A3 and GBX2

Data Source:
BioGRID (genetic interference)

		COL6A3	GBX2
Description		collagen type VI alpha 3 chain	gastrulation brain homeobox 2
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	Chromatin Nucleus
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength	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 RNA Polymerase II Transcription Factor Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity Sequence-specific Double-stranded DNA Binding
	Biological Process	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization	Branching Involved In Blood Vessel Morphogenesis Neural Crest Cell Migration 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 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
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)	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 Q63HQ4 Q8N4Z1	F8VY47 P52951
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?
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