PSENEN wt Allele

Preferred Label : PSENEN wt Allele;

NCIt synonyms : PEN2; Presenilin Enhancer 2 Homolog (C. elegans) wt Allele; MSTP064; MDS033; PEN-2;

NCIt definition : Human PSENEN wild-type allele is located in the vicinity of 19q13.12 and is approximately 1 kb in length. This allele, which encodes gamma-secretase subunit PEN-2 protein, is involved in the regulation of both Notch-dependent signaling and intramembrane proteolysis.;

GenBank Accession Number : AF220053;

Details

Origin ID

C104808;

UMLS CUI

C3541303;

Automatic exact mappings (from CISMeF team)
- Presenilin enhancer, gamma-secretase subunit [OMIM gene]
- presenilin enhancer, gamma-secretase subunit [ORDO Gene]
OMIM relation
- Presenilin enhancer, gamma-secretase subunit [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_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Regulated Intramembrane Proteolysis [NCIt concept]
- Regulation of Proteolysis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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