EXT2

Gene Name		exostosin glycosyltransferase 2
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Membrane Integral Component Of Membrane UDP-N-acetylglucosamine Transferase Complex Extracellular Vesicular Exosome
	Molecular Function	Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity, Transferring Glycosyl Groups Heparan Sulfate N-acetylglucosaminyltransferase Activity Protein Homodimerization Activity Metal Ion Binding Protein Heterodimerization Activity Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity
	Biological Process	Ossification Mesoderm Formation Carbohydrate Metabolic Process Glycosaminoglycan Biosynthetic Process Protein Glycosylation Signal Transduction Pathogenesis Heparan Sulfate Proteoglycan Biosynthetic Process Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Cell Differentiation Glycosaminoglycan Metabolic Process Cellular Polysaccharide Biosynthetic Process Small Molecule Metabolic Process
Pathways		MPS IIIB - Sanfilippo syndrome B Diseases of glycosylation Defective B4GALT7 causes EDS, progeroid type Heparan sulfate/heparin (HS-GAG) metabolism MPS I - Hurler syndrome MPS IX - Natowicz syndrome Glycosaminoglycan metabolism Defective SLC26A2 causes chondrodysplasias Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Defective CHST14 causes EDS, musculocontractural type Defective PAPSS2 causes SEMD-PA MPS IIIA - Sanfilippo syndrome A Myoclonic epilepsy of Lafora MPS IIID - Sanfilippo syndrome D Defective CHST6 causes MCDC1 Glycogen storage diseases MPS IIIC - Sanfilippo syndrome C Diseases associated with glycosaminoglycan metabolism Mucopolysaccharidoses Defective EXT2 causes exostoses 2 MPS II - Hunter syndrome Defective CHST3 causes SEDCJD Defective B3GAT3 causes JDSSDHD Defective EXT1 causes exostoses 1, TRPS2 and CHDS MPS IV - Morquio syndrome A Defective CHSY1 causes TPBS MPS IV - Morquio syndrome B Metabolism of carbohydrates MPS VII - Sly syndrome HS-GAG biosynthesis MPS VI - Maroteaux-Lamy syndrome
Drugs
Diseases
GWAS
Protein-protein Interactions		10 interactors: ANXA7 CDKN1A EXT1 GALNT5 GSKIP PFDN1 SLC22A2 SMN1 TK1 TRAP1
Entrez ID		2132
HPRD ID		00599
Ensembl ID		ENSG00000151348
Uniprot IDs		Q93063
PDB IDs
Enriched GO Terms of Interacting Partners?		Fetal Process Involved In Parturition Cellular Metabolic Process Glycosaminoglycan Biosynthetic Process Skeletal Muscle Cell Proliferation Heparan Sulfate Proteoglycan Biosynthetic Process, Polysaccharide Chain Biosynthetic Process Negative Regulation Of Cellular Respiration Digestive Tract Development Digestive System Development Regulation Of Reactive Oxygen Species Metabolic Process Response To Glucocorticoid Response To Corticosteroid Intestinal Epithelial Cell Maturation Glycosaminoglycan Metabolic Process Response To Toxic Substance Response To Cortisol Thymidine Metabolic Process Cellular Response To UV-B Deoxyribonucleoside Monophosphate Biosynthetic Process Choline Transport Pyrimidine Nucleoside Salvage Pyrimidine-containing Compound Salvage Anatomical Structure Development Response To Organic Cyclic Compound
Tagcloud ?		alters benign cartilaginous chondrocytes chondrogenesis chondrosarcoma chondrosarcomas druggable ext1 hit idh1 idh2 ihh involve late malignant notion outlining prb predisposing pthrp sarcoma scenario shifted stage summarizes thereby transformation underlies