Apolipoprotein E4

Preferred Label : Apolipoprotein E4;

NCIt synonyms : NP_000032.1:p.Cys130Arg,Arg176Arg; Apo-E4; NP_000032.1:p.Cys130Arg; ApoE4; NP_000032.1:p.C130R,R176R; NP_000032.1:p.C130R;

NCIt definition : Apolipoprotein E4 (317 aa, 36 kDa) is encoded by the human APOE gene. This protein is involved in triglyceride metabolism.;

NCIt note : Apolipoprotein E4 isoforms are characterized by the presence of two amino acids, arginine at 130 and arginine at 176.;

Details

Origin ID

C105364;

UMLS CUI

C4721561;

Currated CISMeF NLP mapping
- Apolipoprotein E-IV [OBSOLETE LOINC component]
- Apolipoprotein E4 [LOINC component]
- Apolipoprotein E4 (substance) [SNOMED CT concept]
- apolipoprotein E4 [MeSH concept]
- apolipoprotein e4 [MeSH Descriptor]
OMIM relation
- Apolipoprotein e [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Apolipoprotein E4 (substance) [SNOMED CT concept]
- apolipoprotein E4 [MeSH concept]
- apolipoprotein e4 [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NCIt COVID-19 Clinical Terminology [NCIt concept]
- NCIt COVID-19 Terminology [NCIt concept]
gene_encodes_gene_product
- APOE Gene [NCIt concept]
- APOE*4 Allele [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
gene_product_has_biochemical_function
- Lipoprotein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
gene_product_malfunction_associated_with_disease
- Alzheimer's Disease [NCIt concept]
- Atherosclerotic Cardiovascular Disease [NCIt concept]
gene_product_plays_role_in_biological_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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