Recombinant Human Exostosin-2 (EXT2), partial

1. Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines. PMID: 27650265
2. the present study identified a novel missense mutation (c.1385G>A) in exon 8 and a splicing mutation (c.725+1G>C) in intron 3 of the EXT2 gene, which are responsible for MO in certain Chinese patients. The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO. PMID: 28849184
3. Germline EXT2 mutation is associated with chondrosarcoma. PMID: 27636706
4. The mutation results in deletion of exon 5 in the mRNA, producing a frameshift that leads to a premature termination codon. The present study extends the mutational spectrum of EXT2. PMID: 27748933
5. Authors identified two homozygous mutations p.Met87Arg and p.Arg95 Cys in exostosin 2, EXT2, a ubiquitously expressed gene that encodes a glycosyltransferase. In patient cells, diminished expression and function was observed. PMID: 26246518
6. EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population. PMID: 25207843
7. EXT2 mutation is associated with multiple osteochondromatosis. PMID: 25230886
8. loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development. PMID: 25541963
9. Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity PMID: 25744876
10. 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. PMID: 24728384
11. The second exon of EXT2. A c.244delG mutation is associated with hereditary multiple exostosis. PMID: 25449079
12. This study demonstrated no association of rs1113132, rs3740878 and rs11037909 EXT2 variants with type 2 diabetes mellitus. PMID: 23871501
13. A meta analysis indicates variation in the EXT2 locus appears to be associated with a small increase in the risk of type 2 diabetes. PMID: 23052945
14. Association of genetic variations in EXT2 with Type 2 diabetes mellitus in Tunisia PMID: 21510814
15. Loss of heterozygosity for EXT2 is associated with multiple osteochondromas. PMID: 20813973
16. 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. PMID: 20872591
17. The nonsens mutation 536G>A in the EXT2 is the disease-causing mutation in a family with hereditary multiple exostoses. PMID: 20140877
18. the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins PMID: 12907669
19. 112delAT causes multiple exostoses, indicating full penetrance since relatives with isolated exotoses lacked this deletion. PMID: 14654969
20. Variations in EXT2 gene is associated with multiple osteochondromas PMID: 15586175
21. Promoter methylation was not detected in any of the chondrosarcoma cases in EXT2. PMID: 15796962
22. Detection of mutations in EXT2 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas. PMID: 17301954
23. Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature. PMID: 17676624
24. A novel mutation, c505 G > T, in the EXT2 gene was identified in two unrelated Chinese families with hereditary multiple exostoses. PMID: 18294062
25. A novel mutation in EXT2 gene in a Chinese family with hereditary exostoses is reported. PMID: 18666861
26. Data show that SNPs in EXT2 did not confer a significant risk for type 2 diabetes in Pima Indians. PMID: 19008344
27. The tumor suppressor gene EXT2 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. PMID: 19179614
28. 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. PMID: 19309273

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HGNC: 3513

OMIM: 133701

KEGG: hsa:2132

STRING: 9606.ENSP00000379032

UniGene: Hs.368404