NP_001171554.1
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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
85,815 Da
NCBI Official Full Name
exostosin-2 isoform 3
NCBI Official Synonym Full Names
exostosin glycosyltransferase 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; Putative tumor suppressor protein EXT2
NCBI Summary for EXT2
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
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: 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: 11p11.2
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
Research Articles on EXT2
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Products associated with anti-EXT2 antibody
Pathways associated with anti-EXT2 antibody
Diseases associated with anti-EXT2 antibody
Disease Name |
Pubmed Publications |
Exostoses, Multiple Hereditary Antibodies |
>144 publications with EXT2 and Exostoses, Multiple Hereditary |
Neoplasms Antibodies |
>142 publications with EXT2 and Neoplasms |
Disease Models, Animal Antibodies |
>9 publications with EXT2 and Disease Models, Animal |
Nervous System Diseases Antibodies |
>9 publications with EXT2 and Nervous System Diseases |
Cell Transformation, Neoplastic Antibodies |
>3 publications with EXT2 and Cell Transformation, Neoplastic |
Kidney Diseases Antibodies |
>3 publications with EXT2 and Kidney Diseases |
EXOSTOSES, MULTIPLE, TYPE II Antibodies |
>3 publications with EXT2 and EXOSTOSES, MULTIPLE, TYPE II |
Hypertrophy Antibodies |
>2 publications with EXT2 and Hypertrophy |
Eye Diseases Antibodies |
>2 publications with EXT2 and Eye Diseases |
Kidney Neoplasms Antibodies |
>1 publications with EXT2 and Kidney Neoplasms |
Organs/Tissues associated with anti-EXT2 antibody
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