NP_034293.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
82,064 Da
NCBI Official Full Name
exostosin-2
NCBI Official Synonym Full Names
exostoses (multiple) 2
NCBI Official Synonym Symbols
NCBI Protein Information
exostosin-2
UniProt Protein Name
Exostosin-2
UniProt Synonym Protein Names
Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2 homolog
UniProt Entry Name
EXT2_MOUSE
UniProt Comments for EXT2
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.
Protein type: Glycan Metabolism - heparan sulfate biosynthesis; Tumor suppressor; Membrane protein, integral; EC 2.4.1.225; Transferase; EC 2.4.1.224
Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane
Molecular Function: transferase activity; acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; protein heterodimerization activity; glucuronosyltransferase activity; heparan sulfate N-acetylglucosaminyltransferase activity; metal ion binding; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Biological Process: glycosaminoglycan biosynthetic process; cellular polysaccharide biosynthetic process; ossification; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; mesoderm formation; heparan sulfate proteoglycan biosynthetic process; cell differentiation
Research Articles on EXT2
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Products associated with EXT2 sirna
Pathways associated with EXT2 sirna
Diseases associated with EXT2 sirna
Disease Name |
Pubmed Publications |
Exostoses, Multiple Hereditary Antibodies |
>164 publications with EXT2 and Exostoses, Multiple Hereditary |
Disease Models, Animal Antibodies |
>10 publications with EXT2 and Disease Models, Animal |
Nervous System Diseases Antibodies |
>9 publications with EXT2 and Nervous System Diseases |
Cell Transformation, Neoplastic Antibodies |
>5 publications with EXT2 and Cell Transformation, Neoplastic |
Kidney Diseases Antibodies |
>4 publications with EXT2 and Kidney Diseases |
Neurobehavioral Manifestations Antibodies |
>4 publications with EXT2 and Neurobehavioral Manifestations |
EXOSTOSES, MULTIPLE, TYPE II Antibodies |
>3 publications with EXT2 and EXOSTOSES, MULTIPLE, TYPE II |
Hypertrophy Antibodies |
>2 publications with EXT2 and Hypertrophy |
Liver Diseases Antibodies |
>2 publications with EXT2 and Liver Diseases |
Urogenital Abnormalities Antibodies |
>1 publications with EXT2 and Urogenital Abnormalities |
Organs/Tissues associated with EXT2 sirna
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