EXT2 (gene)

From Wikipedia, the free encyclopedia

Exostoses (multiple) 2

Identifiers

EXT2; SOTV

External IDs

OMIM: 608210 MGI: 108050 HomoloGene: 345

Gene ontology
Molecular Function:	• transferase activity, transferring glycosyl groups • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Cellular Component:	• endoplasmic reticulum • endoplasmic reticulum membrane • Golgi apparatus • membrane • integral to membrane
Biological Process:	• skeletal development • glycosaminoglycan biosynthetic process • cell cycle • signal transduction • negative regulation of progression through cell cycle

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000401 (mRNA)
NP_000392 (protein)

NM_010163 (mRNA)
NP_034293 (protein)

Location

Chr 11: 44.07 - 44.22 Mb

Chr 2: 93.5 - 93.62 Mb

Pubmed search

[1]

[2]

Exostoses (multiple) 2, also known as EXT2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EXT2 exostoses (multiple) 2.

[edit] 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.
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.
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. 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. 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. 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. PMID 9463333.
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.
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. 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. 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. 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. 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. 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.