EXT2 (gene)

Exostosin glycosyltransferase 2
Identifiers
Symbols	EXT2 ; SOTV
External IDs	OMIM: 608210 MGI: 108050 HomoloGene: 345 GeneCards: EXT2 Gene
EC number	2.4.1.224, 2.4.1.225
Gene ontology Molecular function • acetylglucosaminyltransferase activity • glucuronosyltransferase activity • transferase activity, transferring glycosyl groups • heparan sulfate N-acetylglucosaminyltransferase activity • protein homodimerization activity • metal ion binding • protein heterodimerization activity • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Cellular component • Golgi membrane • endoplasmic reticulum • endoplasmic reticulum membrane • Golgi apparatus • membrane • integral component of membrane • UDP-N-acetylglucosamine transferase complex • extracellular exosome Biological process • ossification • mesoderm formation • carbohydrate metabolic process • glycosaminoglycan biosynthetic process • protein glycosylation • signal transduction • heparan sulfate proteoglycan biosynthetic process • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process • cell differentiation • glycosaminoglycan metabolic process • cellular polysaccharide biosynthetic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2132	14043
Ensembl	ENSG00000151348	ENSMUSG00000027198
UniProt	Q93063	P70428
RefSeq (mRNA)	NM_000401	NM_010163
RefSeq (protein)	NP_000392	NP_034293
Location (UCSC)	Chr 11: 44.1 – 44.25 Mb	Chr 2: 93.66 – 93.82 Mb
PubMed search

Exostosin-2 is a protein that in humans is encoded by the EXT2 gene.^[1][2][3]

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.^[3]

Interactions

EXT2 (gene) has been shown to interact with TRAP1.^[4]

References

1. Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ (May 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Hum Mol Genet 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019.
2. Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR (May 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. doi:10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3. PMID 9576285.
3. "Entrez Gene: EXT2 exostoses (multiple) 2".
4. Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. (ENGLAND) 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

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. PMC 1801560. PMID 7668264.
• 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.
• 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. doi:10.1093/hmg/5.10.1547. PMID 8894688.
• 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. doi:10.1101/gr.7.4.359. PMC 139145. PMID 9110175.
• 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. doi:10.1086/515505. PMC 1715939. PMID 9326317.
• 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. doi:10.1086/301726. PMC 1376901. PMID 9463333.
• 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.
• 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. doi:10.1074/jbc.273.41.26265. PMID 9756849.
• 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. doi:10.1007/s100380050149. PMID 10429361.
• 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. doi:10.1007/s004390051062. PMID 10480354.
• 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. doi:10.1093/hmg/8.12.2155. PMID 10545594.
• 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. doi:10.1073/pnas.97.2.668. PMC 15388. PMID 10639137.
• 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.
• 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.
• 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.
• 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.

External links

• Multiple Hereditary Exostoses Research Foundation