Property Summary

NCBI Gene PubMed Count 95
Grant Count 33
R01 Count 15
Funding $2,990,236.26
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 0.002
malignant mesothelioma -1.100 0.000
psoriasis -1.200 0.001
osteosarcoma 2.098 0.000
astrocytoma 1.200 0.037
ovarian cancer 2.100 0.000

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.
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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.
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