Property Summary

NCBI Gene PubMed Count 87
Grant Count 119
R01 Count 51
Funding $13,755,541.21
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 0.018
osteosarcoma 2.341 0.001
glioblastoma -1.300 0.004
adult high grade glioma -1.200 0.000
group 4 medulloblastoma -1.200 0.000
nasopharyngeal carcinoma 1.200 0.001
lung carcinoma -1.200 0.000
Breast cancer -1.100 0.000
gastric carcinoma 1.200 0.014
invasive ductal carcinoma -1.200 0.003
ovarian cancer 2.200 0.000
Gaucher disease type 1 -1.300 0.029
cystic fibrosis and chronic rhinosinusit... -1.088 0.011

Synonym

Accession Q16394 B2R7V2 Q9BVI9
Symbols EXT
LGS
TTV
LGCR
TRPS2

Gene

PANTHER Protein Class (2)

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
More...

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].
More...