Property Summary

NCBI Gene PubMed Count 87
PubMed Score 455.95
PubTator Score 192.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
esophageal adenocarcinoma 1.400 1.8e-02
osteosarcoma 2.341 1.2e-03
glioblastoma -1.300 4.2e-03
adult high grade glioma -1.200 4.3e-04
group 4 medulloblastoma -1.200 4.5e-04
nasopharyngeal carcinoma 1.200 6.2e-04
lung carcinoma -1.200 2.1e-17
Breast cancer -1.100 1.8e-06
gastric carcinoma 1.200 1.4e-02
invasive ductal carcinoma -1.200 3.1e-03
ovarian cancer 2.200 9.0e-06
Gaucher disease type 1 -1.300 2.9e-02
cystic fibrosis and chronic rhinosinusit... -1.088 1.1e-02

Gene RIF (60)

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.
25741008 exostosin 1 (EXT1), which is involved in biosynthesis of heparan sulfate, plays a role in filovirus entry
25568062 Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans
25541963 loss of function of EXT1 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development.
25498973 there is a putative genetic connection between TCF7L2 and EXT in the context of Hereditary Multiple Exostoses
25468659 Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
25421355 Results provide a new frameshift mutation in EXT1, further emphasizing the dysfunction of the EXT gene family as a cause of hereditary multiple exostosis.
25230886 EXT1 mutation is associated with multiple osteochondromatosis.
24568913 splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations
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.
24297320 a novel disease-causing EXT1 mutation in a pedigree with Hereditary multiple exostoses
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.
24009674 Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.
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.
23341036 Results indicate that intronic deletion and duplication of EXT1 as a causative mechanism for multiple osteochondromas (MO) not detected by conventional diagnostic methods.
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.
22820392 analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients
22637216 A novel nonsense mutation of EXT1 gene found in patient diagnosed with multiple hereditary exostoses.
22040554 Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas.
22037484 A polymorphic G/C-SNP at -1158 bp (rs34016643) was demonstrated to be located in a USF1 transcription factor binding site, which is lost with the presence of the C-allele resulting in a ~56% increase in EXT1 promoter activity.
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.
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.
21280143 Out of the 17 patient samples with previously undetected mutations, a low level of deletion of the EXT1 gene in about 10-15% of the blood cells was detected in two patients and mosaic deletion of the EXT2 was detected in one patient.
21039224 8 novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses were identified.
20813973 Loss of heterozygosity for EXT1 is associated with multiple osteochondromas.
20618940 we found a splice site mutation in the EXT1 gene intron 5 (IVS5-2 A > G) resulting in the deletion of 9 bp of cDNA encoding three evolutionarily conserved amino acid residues. This child patient suffered from a severe form of exostoses.
20578942 This heterozygous mutation in the EXT1 gene must be classified as pathogenic and can be regarded as the cause of hereditary multiple exostosis (HME) in this Chinese family.
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
20025490 A novel EXT1 gene mutation causing hereditary multiple exostoses occurred in a Chinese family.
19893584 Observational study and genome-wide association 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)
19344451 Novel mutations have been identified in the EXT1 and the EXT2 gene in 17 Multiple Osteochondromas patients.
19309273 Mutation screening in EXT1 revealed a novel frameshift mutation, a single base deletion in exon 1 (c.142delC), in an Indian pedigree of hereditary multiple exostoses families.
19179614 The tumor suppressor gene EXT1 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas.
18976157 detected mutations in EXT1 or EXT2 in 30 (70%) out of 43 families. results suggest the presence of other gene(s) responsible for multiple osteochondromas, at least in Japanese patients
18810975 Novel mutation in the EXT1 gene in an Iranian family affected with multiple hereditary exostoses is reported.
18373409 found EXT1 to be responsible in seven families (19 affected members) and EXT2 in four families (17 affected members) with multiple osteochondromas
18330718 identified a novel heterozygous 1 bp deletion in the exon 1 (c.529_531delA) leading to a premature codon stop and truncated EXT1 protein expression (p.Lys177LysfsX15)
18216313 mutation associated with familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses
17761672 capacity of wild type EXT2 to enhance heparan sulfate chain length together with EXT1 was not shared by the EXT2-Y419X mutant
17676624 EXT1 mutations are associated with a more severe hereditary multiple exostoses phenotype than other EXT forms.
17610078 The hEXT1 gene was able to rescue a ttv null mutant to adulthood and restore glycosaminoglycan biosynthesis.
17589361 Hereditary multiple exostosis patients with mutations in EXT1 gene have more anatomic abnormality and burden than those with EXT2 mutations.
17341731 EXT1 functions as a classical tumor suppressor gene in the cartilage cap of nonhereditary osteochondromas.
17301954 Detection of mutations in EXT1 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas.
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
15985493 ANovel heterozygous acceptor splice site mutation of EXT1 results in hereditary multiple exostosis(HME) associated with low peak bone mass. Possible additional role for EXT1 in bone biology and in regulating bone density.
15796962 Promoter methylation was not detected in any of the chondrosarcoma cases in EXT1.
15586175 Observational study of gene-disease association. (HuGE Navigator)
15586175 Variations in EXT1 gene is associated with multiple osteochondromas
15385438 EXT1 function is abrogated in human cancer cells by transcriptional silencing associated with CpG island promoter hypermethylation. The epigenetic inactivation of EXT1, a glycosyltransferase, leads to the loss of heparan sulfate synthesis
12907669 EXT1 alone and the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins
12032595 deletion mutation of EXT1 is associated with autism in two patients with hereditary multiple exostoses
11432960 mutational analysis; genotype-phenotype correlation

AA Sequence

MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQ      1 - 70
LENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEG     71 - 140
SRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFD    141 - 210
IGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTR    211 - 280
NALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEA    281 - 350
LQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE    351 - 420
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPL    421 - 490
VSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDA    491 - 560
VLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYY    561 - 630
HYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQ    631 - 700
RQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL                            701 - 746
//

Text Mined References (88)

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.
25741008 2015 Role of EXT1 and Glycosaminoglycans in the Early Stage of Filovirus Entry.
25568062 2015 Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.
25541963 2014 Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.
25498973 2015 The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
25468659 2014 Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
25421355 2015 Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing.
25230886 2014 A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
24568913 2014 [A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses].
24532482 2014 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
24297320 2014 Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.
24120389 2013 Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.
24009674 2013 Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.
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.
23341036 2013 Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for 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.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22820392 2012 Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.
22660413 2012 Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.
22637216 2012 A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.
22040554 2011 Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
22037484 2012 Identification and functional characterization of the human EXT1 promoter region.
21703028 2011 Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.
21499719 2011 Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
21280143 2011 Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.
21039224 2010 Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
20813973 2010 No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.
20618940 2010 Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
20578942 2010 A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.
20418910 2010 Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation.
20025490 2010 A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree.
19893584 2010 Identification of 15 loci influencing height in a Korean population.
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.
19344451 2009 New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
19309273 2009 Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.
19179614 2009 Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma.
18976157 2008 One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
18810975 2008 Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses.
18373409 2008 Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
18330718 2009 Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.
18216313 2008 Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
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.
17610078 2007 Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu.
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.
17341731 2007 The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions.
17301954 2007 A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
16638657 2006 Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.
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.
15985493 2005 A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
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).
15385438 2004 Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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.
12032595 2002 Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.
11518722 2001 The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.
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.
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.
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.
10441575 1999 EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.
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.
9521425 1998 Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
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.
9119404 1997 Genomic organization and promoter structure of the human EXT1 gene.
8981950 1997 Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
8530105 1995 A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).
8317501 1993 Genetic heterogeneity in families with hereditary multiple exostoses.
7550340 1995 Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
1757967 1991 Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
1684953 1991 Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.