Identity
HGNC
LOCATION
11p11.2
IMAGE
LEGEND
EXT2 (11p12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
SOTV,SSMS
FUSION GENES
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
Proteins
Description
718 amino acids; 82.2 kDa
Expression
mRNA is ubiquitously expressed. In mouse embryos, 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
Entity name
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10441575 | 1999 | EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. | Bovée JV et al |
| 9576285 | 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. | Bridge JA et al |
| 9110175 | 1997 | The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. | Clines GA et al |
| 8317501 | 1993 | Genetic heterogeneity in families with hereditary multiple exostoses. | Cook A et al |
| 7726168 | 1995 | Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. | Hecht JT et al |
| 10318803 | 1999 | 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 et al |
| 9756849 | 1998 | The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. | Lind T et al |
| 10529789 | 1999 | New perspectives on the molecular basis of hereditary bone tumours. | McCormick C et al |
| 7726169 | 1995 | Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. | Raskind WH et al |
| 10545594 | 1999 | A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. | Simmons AD et al |
| 10878610 | 2000 | EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. | Stickens D et al |
| 8162019 | 1994 | Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. | Wu YQ et al |
| 7668264 | 1995 | Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. | Wuyts W et al |
| 10679937 | 2000 | Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. | Wuyts W et al |
Other Information
Locus ID:
NCBI: 2132
MIM: 608210
HGNC: 3513
Ensembl: ENSG00000151348
Variants:
dbSNP: 2132
ClinVar: 2132
TCGA: ENSG00000151348
COSMIC: EXT2
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38155009 | 2024 | EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma. | 0 |
| 38155009 | 2024 | EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma. | 0 |
| 36769158 | 2023 | Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy. | 4 |
| 36769158 | 2023 | Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy. | 4 |
| 35194125 | 2022 | Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan. | 14 |
| 35211766 | 2022 | Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. | 0 |
| 35194125 | 2022 | Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan. | 14 |
| 35211766 | 2022 | Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. | 0 |
| 33478971 | 2021 | In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes. | 34 |
| 33596140 | 2021 | Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas. | 0 |
| 33632255 | 2021 | Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. | 7 |
| 34280007 | 2021 | A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma. | 2 |
| 34302213 | 2021 | Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis. | 5 |
| 34403521 | 2021 | Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. | 2 |
| 33478971 | 2021 | In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes. | 34 |
Citation
Judith VMG Bovée
EXT2 exostoses (multiple) 2
Atlas Genet Cytogenet Oncol Haematol. 2002-03-01
Online version: http://atlasgeneticsoncology.org/gene/213/ext2-exostoses-(multiple)-2
Historical Card
2000-01-01 EXT2 exostoses (multiple) 2 by Judith VMG Bovée Affiliation
Afdeling Pathologie, Leids Universitair Medisch Centrum, Postbus 9600, L1-Q, 2300 RC Leiden, the Netherlands
