Aliases for EXT2 Gene
- Exostosin Glycosyltransferase 2 2 3 5
- Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
- N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
- Putative Tumor Suppressor Protein EXT2 3 4
- Multiple Exostoses Protein 2 3 4
- Exostosin-2 3 4
- SOTV 2 3
External Ids for EXT2 Gene
Previous GeneCards Identifiers for EXT2 Gene
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]
GeneCards Summary for EXT2 Gene
EXT2 (Exostosin Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXT2 include Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome and Exostoses, Multiple, Type Ii. Among its related pathways are Mesodermal Commitment Pathway and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. An important paralog of this gene is EXTL3.
UniProtKB/Swiss-Prot Summary for EXT2 Gene
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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).