PSEN2
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.
Overview
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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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).
- 3 · How drugs use it
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.
External identifiers
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))
Biology
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).
- Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier "approved-drug" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery 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.
Similar pages
not linked directly; found by shared links- TargetAPH1A
Shares Desmoid tumour, Open Targets Platform.
- TargetAPH1B
Shares Desmoid tumour, Open Targets Platform.
- TargetNCSTN
Shares Desmoid tumour, Open Targets Platform.
- TargetPSENEN
Shares Desmoid tumour, Open Targets Platform.