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Protein Page:
EXT2 (human)

Overview
EXT2 Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Defects in EXT2 are a cause of hereditary multiple exostoses type 2 (EXT2). EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Defects in EXT2 are a cause of Potocki-Shaffer syndrome (POSHS). It is a contiguous gene syndrome due to proximal deletion of chromosome 11p11.2, including EXT2 and ALX4. Belongs to the glycosyltransferase 47 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.1.224; EC 2.4.1.225; Glycan Metabolism - heparan sulfate biosynthesis; Membrane protein, integral; Transferase; Tumor suppressor
Chromosomal Location of Human Ortholog: 11p12-p11
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi membrane; membrane
Molecular Function: acetylglucosaminyltransferase activity; glucuronosyltransferase activity; protein binding; protein heterodimerization activity; protein homodimerization activity; transferase activity, transferring glycosyl groups
Biological Process: cellular polysaccharide biosynthetic process; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; ossification; signal transduction
Disease: Exostoses, Multiple, Type Ii; Seizures, Scoliosis, And Macrocephaly Syndrome
Reference #:  Q93063 (UniProtKB)
Alt. Names/Synonyms: exostoses (multiple) 2; Exostosin-2; EXT2; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT2; SOTV
Gene Symbols: EXT2
Molecular weight: 82,255 Da
Basal Isoelectric point: 6.12  Predict pI for various phosphorylation states
Select Structure to View Below

EXT2

Protein Structure Not Found.


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