EXT2

Description		exostosin glycosyltransferase 2
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GO Annotations	Cellular Component	Golgi Membrane Extracellular Region Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Membrane UDP-N-acetylglucosamine Transferase Complex Extracellular Exosome Catalytic Complex
	Molecular Function	Protein Binding Acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity Glycosyltransferase Activity 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	Polysaccharide Biosynthetic Process Ossification Mesoderm Formation Chondrocyte Differentiation Glycosaminoglycan Biosynthetic Process Protein Glycosylation Protein N-linked Glycosylation Regulation Of Blood Pressure Gene Expression Heparan Sulfate Proteoglycan Biosynthetic Process Heparin Proteoglycan Biosynthetic Process Fluid Transport Vasodilation Cellular Response To Fibroblast Growth Factor Stimulus Multicellular Organismal-level Water Homeostasis Sulfation Sodium Ion Homeostasis Heart Contraction Endochondral Bone Morphogenesis
Pathways		HS-GAG biosynthesis Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Drugs
Diseases		Multiple exostoses Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome; Simpson-Golabi-Behmel syndrome, type 1; Omodysplasia 1; Multiple exostoses
GWAS		Gut microbiota (bacterial taxa, hurdle binary method) ( 32572223) Height ( 28552196) Refractive error ( 32231278)
Novel Interacting Genes		10 novel interacting genes: ANXA7 CDKN1A EXT1 GALNT5 GSKIP PFDN1 SMN1 TK1 TRAP1 UBC
Interacting Genes		10 interacting genes: ANXA7 CDKN1A EXT1 GALNT5 GSKIP PFDN1 SMN1 TK1 TRAP1 UBC
Entrez ID		2132
HPRD ID		00599
Ensembl ID		ENSG00000151348
Uniprot IDs		Q93063
PDB IDs		7SCH 7SCJ 7SCK 7UQX 7UQY 7ZAY
Enriched GO Terms of Interacting Partners?		Glycosaminoglycan Biosynthetic Process Negative Regulation Of Kinase Activity Protein Kinase Inhibitor Activity PCNA-p21 Complex Negative Regulation Of Cardiac Muscle Tissue Regeneration Wound Healing Negative Regulation Of Protein Kinase Activity N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity Lymphocyte Adhesion To Endothelial Cell Of High Endothelial Venule Glycosaminoglycan Metabolic Process Mesenchymal Cell Differentiation Involved In Bone Development Stomach Development Perichondral Bone Morphogenesis Sweat Gland Development Smoothened Signaling Pathway Involved In Lung Development Heparan Sulfate N-acetylglucosaminyltransferase Activity Thymidine Kinase Activity Translational Attenuation Epithelial Cell Differentiation Negative Regulation Of Protein Phosphorylation Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity DNA Synthesis Involved In Mitotic DNA Replication Kinase Regulator Activity Protein Kinase Binding Protein O-linked Glycosylation Unfolded Protein Binding Negative Regulation Of Phosphorylation Carbohydrate Derivative Biosynthetic Process Cellular Response To Cell-matrix Adhesion Regulation Of Reactive Oxygen Species Metabolic Process Negative Regulation Of Catalytic Activity Negative Regulation Of Phosphate Metabolic Process Oncogene-induced Cell Senescence Stress-induced Premature Senescence Negative Regulation Of Protein Metabolic Process Response To Heparin Embryonic Skeletal Joint Development Protein Glycosylation Limb Joint Morphogenesis Glycosylation Macromolecule Glycosylation Heparin Proteoglycan Biosynthetic Process Chondrocyte Hypertrophy Endochondral Bone Morphogenesis Hematopoietic Stem Cell Migration To Bone Marrow Prefoldin Complex Thymidine Metabolic Process Thymidine Biosynthetic Process Negative Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Hydrogen Peroxide Intrinsic Apoptotic Signaling Pathway
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