LRP2 wt Allele

Preferred Label : LRP2 wt Allele;

NCIt synonyms : Low Density Lipoprotein Receptor-Related Protein 2 wt Allele; DBS; GP330;

NCIt definition : Human LRP2 wild-type allele is located in the vicinity of 2q31.1 and is approximately 236 kb in length. This allele, which encodes low-density lipoprotein receptor-related protein 2, is involved in the endocytosis of lipoproteins, extracellular matrix proteins and secreted proteases. Mutation of the gene is associated with Donnai-Barrow syndrome.;

GenBank Accession Number : NM_004525;

Details

Origin ID

C113300;

UMLS CUI

C3811119;

Automatic exact mappings (from CISMeF team)
- DBS [LOINC System]
- LDL receptor related protein 2 [ORDO Gene]
- low density lipoprotein Receptor-Related Protein-2 [MeSH Descriptor]
OMIM relation
- Low density lipoprotein receptor-related protein 2 [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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q31.1 [NCIt concept]
gene_is_element_in_pathway
- Hedgehog Family-Mediated Signaling Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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