Property Summary

NCBI Gene PubMed Count 95
PubMed Score 252.00
PubTator Score 130.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Multiple myeloma 1.275 1.8e-03
malignant mesothelioma -1.100 4.6e-06
psoriasis -1.200 1.2e-03
osteosarcoma 2.098 2.9e-05
astrocytoma 1.200 3.7e-02
ovarian cancer 2.100 2.2e-05

Gene RIF (65)

PMID Text
26961984 We found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese multiple osteochondromas families.
26690531 In the title.
25744876 Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity
25541963 loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development.
25468659 Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
25449079 The second exon of EXT2. A c.244delG mutation is associated with hereditary multiple exostosis.
25230886 EXT2 mutation is associated with multiple osteochondromatosis.
25207843 EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population.
24728384 The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2.
24532482 EXT1 and EXT2 heterozygous mutations in 18 (54.6 %) and ten (30.3 %) probands respectively, which represents a total of 28 (84.9 %) index cases.
24120389 these findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of multiple osteochondromas in Chinese patients.
23871501 This study demonstrated no association of rs1113132, rs3740878 and rs11037909 EXT2 variants with type 2 diabetes mellitus.
23629877 Novel and recurrent mutations occur in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
23450490 No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.
23439489 we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
23262345 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis.
23052945 A meta analysis indicates variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes.
22820392 analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients
22040554 Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas.
21703028 Molecular characterization of EXT1- and EXT2-deletion breakpoints in multiple osteochondroma indicates that non-allelic homologous recombination between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring.
21510814 Association of genetic variations in EXT2 with Type 2 diabetes mellitus in Tunisia
21499719 Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis.
21039224 8 novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses were identified.
20879858 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20872591 primary defect in EXT2 mRNA level can produce profound effect on the synthesis of HS chains in cartilage, the consequence of which impacts on the regulation of chondrocyte proliferation and differentiation.
20813973 Loss of heterozygosity for EXT2 is associated with multiple osteochondromas.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20580033 Observational study of gene-disease association. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20418910 results clearly indicate that, in most cases, biallelic inactivation of EXT genes does not account for osteochondromas formation; this mechanism should be regarded as a common feature for hereditary osteochondromas transformation
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20140877 The nonsens mutation 536G>A in the EXT2 is the disease-causing mutation in a family with hereditary multiple exostoses.
19933996 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19839753 Two novel EXT1 gene mutations and two novel EXT2 gene mutations were identified in two and three hereditary multiple exostoses pedigrees, respectively.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19380854 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19344451 Novel mutations have been identified in the EXT1 and the EXT2 gene in 17 Multiple Osteochondromas patients.
19336475 Observational study of gene-disease association. (HuGE Navigator)
19309273 A previously unreported stop mutation, the substitution c.817C>T, was observed in the EXT2 gene in an Indian pedigree of hereditary multiple exostoses families.
19179614 The tumor suppressor gene EXT2 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas.
19008344 Data show that SNPs in EXT2 did not confer a significant risk for type 2 diabetes in Pima Indians.
19008344 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18666861 A novel mutation in EXT2 gene in a Chinese family with hereditary exostoses is reported.
18633108 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18597214 Observational study of gene-disease association. (HuGE Navigator)
18544707 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18373409 found EXT1 to be responsible in seven families (19 affected members) and EXT2 in four families (17 affected members) with multiple osteochondromas
18294062 A novel mutation, c505 G > T, in the EXT2 gene was identified in two unrelated Chinese families with hereditary multiple exostoses.
18210030 Observational study of gene-disease association. (HuGE Navigator)
17928989 Observational study of gene-disease association. (HuGE Navigator)
17786204 Observational study of gene-disease association. (HuGE Navigator)
17761672 capacity of wild type EXT2 to enhance heparan sulfate chain length together with EXT1 was not shared by the EXT2-Y419X mutant
17676624 Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature.
17589361 Hereditary multiple exostosis patients with mutations in EXT1 gene have more anatomic abnormality and burden than those with EXT2 mutations.
17301954 Detection of mutations in EXT2 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas.
17293876 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
16638657 We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene)in hereditary multiple exostoses
16283885 Observational study of genetic testing. (HuGE Navigator)
16088908 analysis of multiple osteochondroma-related mutations in EXT1 and EXT2
15796962 Promoter methylation was not detected in any of the chondrosarcoma cases in EXT2.
15586175 Observational study of gene-disease association. (HuGE Navigator)
15586175 Variations in EXT2 gene is associated with multiple osteochondromas
14654969 112delAT causes multiple exostoses, indicating full penetrance since relatives with isolated exotoses lacked this deletion.
12907669 the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins

AA Sequence

MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVR      1 - 70
LPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDS     71 - 140
DYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRA    141 - 210
LLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESV    211 - 280
LVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYIL    281 - 350
PFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP    351 - 420
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWN    421 - 490
NQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFP    491 - 560
DRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDAHMNCEDIA    561 - 630
MNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVL    631 - 700
YKDDFPEKLKSFPNIGSL                                                        701 - 718
//

Text Mined References (99)

PMID Year Title
26961984 2016 Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
26690531 2015 Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
26246518 2015 Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
25744876 2015 Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.
25541963 2014 Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.
25468659 2014 Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
25449079 2014 [Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis].
25230886 2014 A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
25207843 2015 Impact of variants of the EXT2 gene on Type 2 diabetes and its related traits in the Chinese han population.
24728384 2014 A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
24532482 2014 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
24120389 2013 Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.
23871501 2013 Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs.
23629877 2013 Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
23450490 2013 [Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].
23439489 2013 Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
23262345 2013 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
23052945 2013 Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis.
22820392 2012 Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
22660413 2012 Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.
22040554 2011 Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
21703028 2011 Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.
21510814 2011 Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia.
21499719 2011 Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
21039224 2010 Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
20879858 2010 Impact of single nucleotide polymorphisms and of clinical risk factors on new?onset diabetes mellitus in HIV?infected individuals.
20872591 2010 A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.
20813973 2010 No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20580033 2010 Replication of recently described type 2 diabetes gene variants in a South Indian population.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20418910 2010 Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20140877 2010 [The EXT2 gene mutation in a family with hereditary multiple exostoses].
19946888 2010 Defining the membrane proteome of NK cells.
19933996 2010 Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19839753 2009 Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19380854 2009 Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.
19344451 2009 New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
19336475 2009 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
19309273 2009 Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19179614 2009 Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma.
19008344 2009 Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.
18666861 2008 A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.
18633108 2008 Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
18597214 2008 Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies.
18544707 2008 Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
18373409 2008 Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
18337501 2008 Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
18294062 2007 A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.
18210030 2008 Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17928989 2007 Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.
17786204 2007 Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function.
17761672 2007 Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
17676624 2007 Clinical outcome and genotype in patients with hereditary multiple exostoses.
17589361 2007 Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17301954 2007 A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
17293876 2007 A genome-wide association study identifies novel risk loci for type 2 diabetes.
16638657 2006 Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16283885 2005 An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
16088908 2005 Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
15796962 2005 Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma.
15586175 2005 Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14654969 2004 Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.
12907685 2003 In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction.
12907669 2003 In vitro polymerization of heparan sulfate backbone by the EXT proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11668521 2001 Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.
11432960 2001 Genotype-phenotype correlation in hereditary multiple exostoses.
11391482 2001 Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
11170095 2001 Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.
11169766 2001 Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
10878610 2000 EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.
10738008 2000 An R223P mutation in EXT2 gene causes hereditary multiple exostoses.
10679937 2000 Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
10679296 2000 Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.
10639137 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.
10545594 1999 A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.
10480354 Mutation analysis of hereditary multiple exostoses in the Chinese.
10429361 1999 Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
9756849 1998 The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.
9620772 1998 The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.
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.
9463333 1998 Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
9326317 1997 Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.
9110175 1997 The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.
8894688 1996 Positional cloning of a gene involved in hereditary multiple exostoses.
8782816 1996 The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
8162019 1994 Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
7668264 1995 Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.