EXT2 (gene)

Exostoses (multiple) 2
Identifiers
Symbols	EXT2 ; SOTV
External IDs	Template:OMIM5 Template:MGI HomoloGene: 345
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Exostoses (multiple) 2, also known as EXT2, is a human 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.

Further reading

• Wuyts W, Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes". Hum. Mutat. 15 (3): 220–7. doi:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K. PMID 10679937.
• Wuyts W, Ramlakhan S, Van Hul W; et al. (1995). "Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11". Am. J. Hum. Genet. 57 (2): 382–7. PMID 7668264.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wu YQ, Heutink P, de Vries BB; et al. (1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Hum. Mol. Genet. 3 (1): 167–71. PMID 8162019.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stickens D, Clines G, Burbee D; et al. (1996). "The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes". Nat. Genet. 14 (1): 25–32. doi:10.1038/ng0996-25. PMID 8782816.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wuyts W, Van Hul W, Wauters J; et al. (1997). "Positional cloning of a gene involved in hereditary multiple exostoses". Hum. Mol. Genet. 5 (10): 1547–57. PMID 8894688.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clines GA, Ashley JA, Shah S, Lovett M (1997). "The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans". Genome Res. 7 (4): 359–67. PMID 9110175.CS1 maint: Multiple names: authors list (link)
• Philippe C, Porter DE, Emerton ME; et al. (1997). "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses". Am. J. Hum. Genet. 61 (3): 520–8. PMID 9326317.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wuyts W, Van Hul W, De Boulle K; et al. (1998). "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses". Am. J. Hum. Genet. 62 (2): 346–54. PMID 9463333.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bridge JA, Nelson M, Orndal C; et al. (1998). "Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas". Cancer. 82 (9): 1657–63. PMID 9576285.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCormick C, Leduc Y, Martindale D; et al. (1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate". Nat. Genet. 19 (2): 158–61. doi:10.1038/514. PMID 9620772.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lind T, Tufaro F, McCormick C; et al. (1998). "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate". J. Biol. Chem. 273 (41): 26265–8. PMID 9756849.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Park KJ, Shin KH, Ku JL; et al. (1999). "Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses". J. Hum. Genet. 44 (4): 230–4. PMID 10429361.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xu L, Xia J, Jiang H; et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. PMID 10480354.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simmons AD, Musy MM, Lopes CS; et al. (1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. 8 (12): 2155–64. PMID 10545594.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 668–73. PMID 10639137.CS1 maint: Multiple names: authors list (link)
• Kobayashi S, Morimoto K, Shimizu T; et al. (2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus". Biochem. Biophys. Res. Commun. 268 (3): 860–7. doi:10.1006/bbrc.2000.2219. PMID 10679296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shi YR, Wu JY, Tsai FJ; et al. (2000). "An R223P mutation in EXT2 gene causes hereditary multiple exostoses". Hum. Mutat. 15 (4): 390–1. doi:10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E. PMID 10738008.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stickens D, Brown D, Evans GA (2000). "EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis". Dev. Dyn. 218 (3): 452–64. doi:10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P. PMID 10878610.CS1 maint: Multiple names: authors list (link)
• Bernard MA, Hall CE, Hogue DA; et al. (2001). "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes". Cell Motil. Cytoskeleton. 48 (2): 149–62. doi:10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3. PMID 11169766.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• Multiple Hereditary Exostoses Research Foundation