# PSEN2

Source: https://onco.cc/targets/psen2/  
OnCo record `psen2` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: presenilin 2; Presenilin-2; AD3L; STM2; PS2; PS-2; E5-1; AD4
- Tags: cancer-genes-wave
- Symbol: PSEN2
- Class: enzyme
- 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).
- Where found: Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)

## 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.

## Sources

- HGNC HGNC:9509: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509
- UniProt P49810: https://www.uniprot.org/uniprotkb/P49810/entry
- NCBI Gene 5664: https://www.ncbi.nlm.nih.gov/gene/5664
- Ensembl ENSG00000143801: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143801

## Connected records

- collections: [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Desmoid tumour](https://onco.cc/cancers/desmoid-tumour/)

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JSON: https://onco.cc/api/v1/entities/psen2.json