EXT2 (gene)

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EXT2
Identifiers
Aliases EXT2, SOTV, SSMS, exostosin glycosyltransferase 2
External IDs MGI: 108050 HomoloGene: 345 GeneCards: EXT2
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for EXT2
Genomic location for EXT2
Band 11p11.2 Start 44,095,549 bp[1]
End 44,245,429 bp[1]
RNA expression pattern
PBB GE EXT2 202013 s at fs.png

PBB GE EXT2 202012 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000401
NM_001178083
NM_207122

NM_010163
NM_001355075
NM_001355076

RefSeq (protein)

NP_000392
NP_001171554
NP_997005

NP_034293
NP_001342004
NP_001342005

Location (UCSC) Chr 11: 44.1 – 44.25 Mb Chr 2: 93.66 – 93.82 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Exostosin-2 is a protein that in humans is encoded by the EXT2 gene.[5][6][7]

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.[7]

Interactions

EXT2 (gene) has been shown to interact with TRAP1.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151348 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027198 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: EXT2 exostoses (multiple) 2". 
  8. ^ 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

External links

  • Multiple Hereditary Exostoses Research Foundation



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