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PSEN2 (Presenilin-2) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Selectively cleaves late endosomal/lysosomal localised substrates and generates the prominent pool of intracellular amyloid beta that contains longer amyloid beta. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis.
In plain words · PSEN2 (Presenilin-2) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
PSEN2 (Presenilin-2) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.
Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein).
No product in this corpus aims at PSEN2 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSEN2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas PSEN2 tissue; Open Targets ENSG00000143801 associations
First described 1995. Earliest sequence paper UniProt cites for the protein: Levy-Lahad et al, Science, 1995, "Candidate gene for the chromosome 1 familial Alzheimer's disease locus". Source.
Sources: HGNC HGNC:9509 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P49810 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000143801 (per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0))
Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Selectively cleaves late endosomal/lysosomal localised substrates and generates the prominent pool of intracellular amyloid beta that contains longer amyloid beta. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis. Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria. Location: Endoplasmic reticulum membrane; Golgi apparatus membrane; Late endosome membrane; Lysosome membrane (UniProt). Locus 1q42.13 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
No normal tissue stained high.
No cancer sample stained medium or high.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"PSEN2" OR ABSTRACT:"PSEN2" OR TITLE:"presenilin 2" OR ABSTRACT:"presenilin 2" OR TITLE:"Presenilin-2" OR ABSTRACT:"Presenilin-2" OR TITLE:"AD3L" OR ABSTRACT:"AD3L" OR TITLE:"STM2" OR ABSTRACT:"STM2" OR TITLE:"PS2" OR ABSTRACT:"PS2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about PSEN2, not a curated reading list.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.
Shares Desmoid tumour, Open Targets Platform.