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EXT2 exostoses (multiple) 2

Written2000-01Judith VMG Bovée
Afdeling Pathologie, Leids Universitair Medisch Centrum, Postbus 9600, L1-Q, 2300 RC Leiden, the Netherlands
Updated2002-03Judith VMG Bovée
Afdeling Pathologie, Leids Universitair Medisch Centrum, Postbus 9600, L1-Q, 2300 RC Leiden, the Netherlands

(Note : for Links provided by Atlas : click)


Other alias
LocusID (NCBI) 2132
Atlas_Id 213
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at and ends at bp from pter
  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)


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


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
  • a tumour suppressor function is suggested; exostosin-2 (EXT2) is an endoplasmic reticulum localized type II transmembrane glycoprotein which together with exostosin-1 (EXT1) forms a Golgi-localized hetero-oligomeric complex that catalyzes heparan sulphate (HS) polymerization.
  • It is thus hypothesized that EXT controls HSPG synthesis and display at the cell surface, which in turn is involved in FGF and IHh/PTHrP signalling within the normal growth plate.
  • Homology human EXT1, EXTL1, EXTL2 and EXTL3, mouse Ext2


    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

    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


    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


    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 ]
    On line version :
    History of this paper:
    Bovée, JVMG. EXT2 (exostoses (multiple) 2). Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):5-6.

    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
      t(11;11)(p11;p11) ACCS/EXT2
    t(11;11)(p11;p11) ACCS/EXT2

    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
      Bone tumors: an overview
    Bone: Chondrosarcoma
    Bone: Osteochondroma
    t(3;11)(q12;p11) ABI3BP/EXT2
    EXT2/ALKBH3 (11p11)
    EXT2/ALX4 (11p11)

    Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
      Multiple osteochondromas (MO)

    External links

    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)2132
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    canSAR (ICR) (select the gene name)
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Oct 18 17:35:48 CEST 2018

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