GBX2 and COL6A3

Data Source:
BioGRID (genetic interference)

		GBX2	COL6A3
Description		gastrulation brain homeobox 2	collagen type VI alpha 3 chain
Image		No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus	Extracellular Region Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle
	Molecular Function	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	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	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	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization
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		Craniofacial microsomia ( 26853712) Educational attainment (years of education) ( 23722424)	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
Entrez ID		2637	1293
HPRD ID		03087	00371
Ensembl ID		ENSG00000168505	ENSG00000163359
Uniprot IDs		F8VY47 P52951	B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1
PDB IDs			1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?