EXT2 wt Allele

Preferred Label : EXT2 wt Allele;

NCIt synonyms : SOTV; Exostoses (Multiple) 2 Gene; Multiple Exostosis 2 Gene; SSMS; Exostosin Glycosyltransferase 2 wt Allele;

NCIt definition : Human EXT2 wild-type allele is located within 11p12-p11 and is approximately 150 kb in length. This allele, which encodes exostosin-2 protein, plays a role in the chain elongation step of heparin sulfate biosynthesis. Certain allelic variants of the EXT2 gene cause multiple exostoses type II.;

NCIt note : The EXT2 gene is a putative tumor suppressor gene.;

GenBank Accession Number : U64511;

Détails

Origin ID

C50959;

UMLS CUI

C1707872;

Automatic exact mappings (from CISMeF team)
- Seizures, scoliosis, and macrocephaly/microcephaly syndrome [OMIM Phenotype]
- exostosin glycosyltransferase 2 [ORDO Gene]
OMIM relation
- Exostosin glycosyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 11: 44073675-44223556 [NCIt concept]
gene_in_chromosomal_location
- 11p12-p11 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Multiple Exostoses [NCIt concept]
- Osteochondroma [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Tumor Suppression [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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