Exostosin-2 - CISMeF

Preferred Label : Exostosin-2;

NCIt synonyms : Exostoses (multiple) 2; EXT2; Multiple Exostoses Protein 2; Putative Tumor Suppressor Protein EXT2; Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase; EC 2.4.1.224; EC 2.4.1.225; Exostosin 2; Exostosin Glycosyltransferase 2;

NCIt definition : Exostosin-2 (718 aa, 82 kDa) is encoded by the human EXT2 gene. This protein plays a role in both bone formation and glycosaminoglycan synthesis.;

Details

Origin ID

C18037;

UMLS CUI

C1739828;

OMIM relation
- Exostosin glycosyltransferase 2 [OMIM gene]
See also inter- (CISMeF)
- Exostoses, multiple, type II [OMIM Phenotype]
- Exostosin glycosyltransferase 2 [OMIM gene]
- exostosin glycosyltransferase 2 [HGNC gene]
- exostosin glycosyltransferase 2 [ORDO Gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- EXT2 protein, human [MeSH concept]
- EXT2 protein, human [MeSH Supplementary Concept]
- Exostosin 2 [MeSH concept]
- exostosin-2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Exostosin 2 [MeSH Descriptor]
- Exostosin 2 [MeSH concept]
- exostosin-2 [MeSH Supplementary Concept]
gene_encodes_gene_product
- EXT2 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Glycosyltransferase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Endoplasmic Reticulum [NCIt concept]
- Golgi Apparatus [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_product_malfunction_associated_with_disease
- Hereditary Multiple Exostoses [NCIt concept]
gene_product_plays_role_in_biological_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients