IGF2R wt Allele

Preferred Label : IGF2R wt Allele;

NCIt synonyms : Insulin-Like Growth Factor 2 Receptor Gene; M6P-R; MPRI; CD222; CIMPR; Insulin Like Growth Factor 2 Receptor wt Allele; MPR 300; MPR300; MPR1; M6P/IGF2R; CI-M6PR; CI-MPR;

NCIt definition : Human IGF2R wild-type allele is located within 6q26 and is approximately 137 kb in length. This allele, which encodes cation-independent mannose-6-phosphate receptor protein, plays a role in protein sorting and receptor signal transduction.;

NCIt note : IGF2R is a putative hepatocellular tumor suppressor.;

GenBank Accession Number : NM_000876;

Détails

Origin ID

C51549;

UMLS CUI

C1708415;

Automatic exact mappings (from CISMeF team)
- CD 222 [MeSH Supplementary Concept]
- Insulin-like growth factor II receptor [OMIM gene]
- Mannose 6-phosphate receptor, cation-dependent [OMIM gene]
OMIM relation
- Insulin-like growth factor II receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hepatocellular Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating IGF2R Gene Mutation [NCIt concept]
gene_has_physical_location
- 6: 160360542-160497994 [NCIt concept]
gene_in_chromosomal_location
- 6q26 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

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

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