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Gene : EXT2 Homo sapiens

Name  ? exostosin glycosyltransferase 2 Cytological Location  11p11.2
Brief Description  exostosin glycosyltransferase 2
Description  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. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc001mxz.4,
  • EXT2,
  • SOTV,
  • SOTV,
  • HGNC:3513,
  • SSMS,
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase,
  • NM_000401,
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase,
  • exostosin 2,
  • exostoses (multiple) 2,
  • OTTHUMG00000166498
  • identifiers:
  • 2132,
  • ENSG00000151348,
  • EXT2

Genome feature

Region: gene ? Length: 156323  
Location: 11:44095659-44251981 Cyto location: 11p11.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results