EXT2 (gene)

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Exostosin glycosyltransferase 2
Identifiers
Symbols EXT2 ; SOTV
External IDs OMIM608210 MGI108050 HomoloGene345 GeneCards: EXT2 Gene
EC number 2.4.1.224, 2.4.1.225
RNA expression pattern
PBB GE EXT2 202012 s at tn.png
PBB GE EXT2 202013 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2132 14043
Ensembl ENSG00000151348 ENSMUSG00000027198
UniProt Q93063 P70428
RefSeq (mRNA) NM_000401 NM_010163
RefSeq (protein) NP_000392 NP_034293
Location (UCSC) Chr 11:
44.12 – 44.27 Mb
Chr 2:
93.66 – 93.82 Mb
PubMed search [1] [2]

Exostosin-2 is a protein that in humans is encoded by the EXT2 gene.[1][2][3]

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of Multiple Exostoses.[3]

Interactions[edit]

EXT2 (gene) has been shown to interact with TRAP1.[4]

References[edit]

  1. ^ Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ (May 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Hum Mol Genet 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019. 
  2. ^ Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR (May 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". Cancer 82 (9): 1657–63. doi:10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3. PMID 9576285. 
  3. ^ a b "Entrez Gene: EXT2 exostoses (multiple) 2". 
  4. ^ Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. (ENGLAND) 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594. 

Further reading[edit]

External links[edit]