| Written | 2002-03 | Judith VMG Bovée |
| Afdeling Pathologie, Leids Universitair Medisch Centrum, Postbus 9600, L1-Q, 2300 RC Leiden, the Netherlands |
| This article is an update of : |
| 2000-01 | Judith VMG Bovée | |
| Afdeling Pathologie, Leids Universitair Medisch Centrum, Postbus 9600, L1-Q, 2300 RC Leiden, the Netherlands |
| Identity |
| HGNC (Hugo) | EXT2 |
| HGNC Alias symb | SOTV |
| HGNC Alias name | Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase |
| HGNC Previous name | exostoses (multiple) 2 | exostosin 2 |
| LocusID (NCBI) | 2132 |
| Atlas_Id | 213 |
| Location | 11p11.2 [Link to chromosome band 11p11] |
| Location_base_pair | Starts at 44095678 and ends at 44251961 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping EXT2.png] |
 | |
| EXT2 (11p12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| ABI3BP (3q12.2)::EXT2 (11p11.2) | ACCS (11p11.2)::EXT2 (11p11.2) | CSTB (21q22.3)::EXT2 (11p11.2) | |
| EXT2 (11p11.2)::ALKBH3 (11p11.2) | EXT2 (11p11.2)::ALX4 (11p11.2) | SBF2 (11p15.4)::EXT2 (11p11.2) | |
| DNA/RNA |
 | |
| Description | Sixteen exons across the EXT2 locus were identified, two of which (1a and 1b) are alternatively spliced; spans approximately 108 kb of genomic DNA |
| Transcription | 3.5 and 3.7 kb |
| Protein |
| Description | 718 amino acids; 82.2 kDa |
| Expression | mRNA is ubiquitously expressed. In mouse embryo's, a high level of expression of Ext2 mRNA has been found in developing limb buds and expression was demonstrated to be confined to the proliferating and prehypertrophic chondrocytes of the growth plate. |
| Localisation | endoplasmic reticulum |
| Function | |
| Homology | human EXT1, EXTL1, EXTL2 and EXTL3, mouse Ext2 |
| Mutations |
| Germinal | germline mutations in EXT2 are causative for hereditary multiple exostoses, a heterogeneous autosomal dominant disorder; mutations include nucleotide substitutions (57%), small deletions (19%) and small insertions (24%), of which the majority is predicted to result in a truncated or non-functional protein |
| Somatic | no somatic mutations were found in 34 sporadic and hereditary osteochondromas and secondary peripheral chondrosarcomas tested |
| Implicated in |
| Note | |
| Entity | hereditary multiple exostoses |
| Prognosis | the main complication in hereditary multiple exostoses is malignant transformation of an osteochondroma (exostosis) into chondrosarcoma, which is estimated to occur in 1-3% of the HME cases |
| Cytogenetics | 11p rearrangement was found in 1 sporadic osteochondroma (exostosis) using cytogenetic analysis; loss of heterozygosity at the EXT2 locus was absent in 14 osteochondromas |
| Bibliography |
| EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. |
| Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC |
| American journal of human genetics. 1999 ; 65 (3) : 689-698. |
| PMID 10441575 |
| Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. |
| Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR |
| Cancer. 1998 ; 82 (9) : 1657-1663. |
| PMID 9576285 |
| The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. |
| Clines GA, Ashley JA, Shah S, Lovett M |
| Genome research. 1997 ; 7 (4) : 359-367. |
| PMID 9110175 |
| Genetic heterogeneity in families with hereditary multiple exostoses. |
| Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G |
| American journal of human genetics. 1993 ; 53 (1) : 71-79. |
| PMID 8317501 |
| Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. |
| Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M |
| American journal of human genetics. 1995 ; 56 (5) : 1125-1131. |
| PMID 7726168 |
| The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. |
| Kitagawa H, Shimakawa H, Sugahara K |
| The Journal of biological chemistry. 1999 ; 274 (20) : 13933-13937. |
| PMID 10318803 |
| The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. |
| Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K |
| The Journal of biological chemistry. 1998 ; 273 (41) : 26265-26268. |
| PMID 9756849 |
| New perspectives on the molecular basis of hereditary bone tumours. |
| McCormick C, Duncan G, Tufaro F |
| Molecular medicine today. 1999 ; 5 (11) : 481-486. |
| PMID 10529789 |
| Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. |
| Raskind WH, Conrad EU, Chansky H, Matsushita M |
| American journal of human genetics. 1995 ; 56 (5) : 1132-1139. |
| PMID 7726169 |
| A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. |
| Simmons AD, Musy MM, Lopes CS, Hwang LY, Yang YP, Lovett M |
| Human molecular genetics. 1999 ; 8 (12) : 2155-2164. |
| PMID 10545594 |
| EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. |
| Stickens D, Brown D, Evans GA |
| Developmental dynamics : an official publication of the American Association of Anatomists. 2000 ; 218 (3) : 452-464. |
| PMID 10878610 |
| Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. |
| Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ |
| Human molecular genetics. 1994 ; 3 (1) : 167-171. |
| PMID 8162019 |
| Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. |
| Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den Ouweland AM, Raskind WH, Hofstede FC, Reyniers E, Wells DE, de Vries B |
| American journal of human genetics. 1995 ; 57 (2) : 382-387. |
| PMID 7668264 |
| Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. |
| Wuyts W, Van Hul W |
| Human mutation. 2000 ; 15 (3) : 220-227. |
| PMID 10679937 |
| Citation |
| This paper should be referenced as such : |
| Bovée, JVMG |
| EXT2 (exostoses (multiple) 2) |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):186-187. |
| Free journal version : [ pdf ] [ DOI ] |
| History of this paper: |
| Bovée, JVMG. EXT2 (exostoses (multiple) 2). Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):5-6. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/37576/01-2000-EXT2ID213.pdf |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
t(11;11)(p11;p11) ACCS::EXT2
|
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Multiple osteochondromas (MO) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Oct 8 21:17:34 CEST 2021 |
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