{"entity":{"id":"psen2","kind":"target","name":"PSEN2","aka":["presenilin 2","Presenilin-2","AD3L","STM2","PS2","PS-2","E5-1","AD4"],"tldr":"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.","summary":"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.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509"},{"label":"UniProt P49810","url":"https://www.uniprot.org/uniprotkb/P49810/entry"},{"label":"NCBI Gene 5664","url":"https://www.ncbi.nlm.nih.gov/gene/5664"},{"label":"Ensembl ENSG00000143801","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143801"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSEN2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49810","url":"https://www.uniprot.org/uniprotkb/P49810/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143801","url":"https://platform.opentargets.org/target/ENSG00000143801/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"hgnc":"HGNC:9509","ensembl":"ENSG00000143801","uniprot":"P49810","entrez":"5664","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).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/psen2/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"desmoid-tumour","kind":"cancer","name":"Desmoid tumour","route":"/cancers/desmoid-tumour/"}]}}