> Trialight public data. Index of pages: https://trialight.com/llms.txt
> Web page: https://trialight.com/data/target/psen2-c4cb79da-7086-5973-8fac-76c58d524c87
> Record changed: 2026-10-13

# PSEN2

ENSG00000143801

Target class

Ion channel

Chromosome

1

Approved drugs

2

Clinical candidates (approved and in development)

7

## Clinical evidence

**Approved drugs**

2

**ClinGen gene-disease validity**

Limited

**Clinical candidates (approved and in development)**

7

## Druggability

**Chemical probe available**

No

## Names

**Target name**

PSEN2

**Gene name**

Presenilin 2

**Gene symbol**

PSEN2

**Previous gene symbols**

- AD4

**Protein name**

Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) \[Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit\]

### Other names (5)

- AD3L
- STM2
- PS2
- PS-2
- E5-1

## Classification

**Gene biotype**

Protein coding

**Gene family**

Presenilin family|Gamma-secretase complex subunits

**Target class**

Ion channel

**Target type**

Human gene

## Expression and localisation

**Tissues expressed in**

54

**Highest tissue expression**

24.19

**Tissue specificity (Gini)**

0.244

**Tissue specificity (tau)**

0.469

## Pathways and interactions

**KEGG gene identifiers**

- hsa:5664

**Protein interaction confidence**

0.869054

**Protein interaction partners**

37

### Reactome pathways (12)

- R-HSA-1251985
- R-HSA-193692
- R-HSA-205043
- R-HSA-2122948
- R-HSA-2644606
- R-HSA-2894862
- R-HSA-2979096
- R-HSA-3928665
- R-HSA-9013507
- R-HSA-9013700
- R-HSA-9017802
- R-HSA-9839383

## Genomic location

**End position**

226927726

**Start position**

226870184

**Chromosome**

1

**Strand**

Forward

## Identifiers

**Ensembl gene ID**

ENSG00000143801

**HGNC ID**

HGNC:9509

Source: [www.genenames.org](https://www.genenames.org/data/gene-symbol-report/#!/hgnc%5Fid/HGNC:9509)

**NCBI Gene ID**

5664

**UniProt ID**

P49810

## Cellular location

- Endoplasmic reticulum membrane
- Multi-pass membrane protein . Golgi apparatus membrane
- Multi-pass membrane protein . Late endosome membrane . Lysosome membrane . Note=Late endosome/lysosome localization is dependent of the phosphorylation-mediated interaction with the AP1G1 (PubMed:27293189). Also highly enriched in mitochondria-associated endoplasmic reticulum membrane contact site (By similarity). .

### Publication evidence (2)

- PubMed 8574969  
Source: [pubmed.ncbi.nlm.nih.gov](https://pubmed.ncbi.nlm.nih.gov/8574969/)
- PubMed 27293189  
Source: [pubmed.ncbi.nlm.nih.gov](https://pubmed.ncbi.nlm.nih.gov/27293189/)

## Tissue expression

**Tissue specificity (tau)**

0.468812

**Expression inequality (Gini)**

0.244446

### Highest expression

Expression in transcripts per million

**Uterus**

24.19

**Pituitary**

23.17

**Brain - Cerebellum**

22.92

**Esophagus - Muscularis**

22.61

**Testis**

22.19

### All tissues (54)

Expression in transcripts per million

- Uterus24.19
- Pituitary23.17
- Brain - Cerebellum22.92
- Esophagus - Muscularis22.61
- Testis22.19
- Brain - Cerebellar Hemisphere22.06
- Prostate20.21
- Pancreas20.18
- Adrenal Gland19.74
- Fallopian Tube19.32
- Ovary19.21
- Esophagus - Gastroesophageal Junction19.13
- Colon - Sigmoid18.39
- Spleen18.35
- Lung16.47
- Bladder16.05
- Cervix - Ectocervix15.53
- Small Intestine - Terminal Ileum15.22
- Cervix - Endocervix15.03
- Thyroid14.8
- Artery - Aorta13.94
- Minor Salivary Gland13.68
- Vagina13.39
- Adipose - Subcutaneous13.31
- Breast - Mammary Tissue13.1

And 29 more, listed on the interactive page.

## Biological functions

### Biological processes (8)

- GO:0006509  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0006509)
- GO:0007220  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0007220)
- GO:0016485  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0016485)
- GO:0034205  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0034205)
- GO:0035333  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0035333)
- GO:0042987  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0042987)
- GO:0110097  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0110097)
- GO:1990456  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:1990456)

### Cellular components (15)

- GO:0000139  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0000139)
- GO:0000776  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0000776)
- GO:0005637  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005637)
- GO:0005764  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005764)
- GO:0005765  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005765)
- GO:0005770  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005770)
- GO:0005783  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005783)
- GO:0005789  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005789)
- GO:0005794  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005794)
- GO:0005813  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005813)
- GO:0005886  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005886)
- GO:0016020  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0016020)
- GO:0031902  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0031902)
- GO:0032991  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0032991)
- GO:0070765  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0070765)

### Molecular functions (2)

- GO:0005515  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)
- GO:0042500  
Source: [www.ebi.ac.uk](https://www.ebi.ac.uk/QuickGO/term/GO:0042500)

## Related records

### Trials (117)

- A Dose-escalation Study to Evaluate the Safety and Clinical Activity of PBCAR269A, With or Without Nirogacestat, in Study Participants With Relapsed/Refractory Multiple Myeloma
- A Multicenter, Double Blind, Placebo-Controlled, Safety and Tolerability Study of BMS-708163 in Patients With Prodromal Alzheimer's Disease
- A Phase II, Multicenter, Double Blind, Placebo-Controlled Safety, Tolerability Study of BMS-708163 in Patients With Mild to Moderate Alzheimer's Disease
- A Study Evaluating PF-03084014 In Patients With Advanced Breast Cancer With Or Without Notch Alterations
- A Study Evaluating The PF-03084014 In Combination With Docetaxel In Patients With Advanced Breast Cancer
- A Study of a New Drug, Nirogacestat, for Treating Desmoid Tumors That Cannot be Removed by Surgery
- A Study of Belantamab Mafodotin in Combination With Nirogacestat and Pomalidomide in People With Multiple Myeloma That Has Not Responded to Treatment or Has Come Back After Treatment
- A Study of Healthy Subjects to Assess the Effect of LY450139 on Amyloid Beta Peptide Production Rate and or Dose Response.
- A Study of Nirogacestat in Japanese Adults With Desmoid Tumors/Aggressive Fibromatosis (DT/AF)
- A Study Of PF-03084014 In Japanese Patients With Advanced Solid Tumors
- A Study of RO4929097 in Patients With Advanced Renal Cell Carcinoma That Have Failed Vascular Endothelial Growth Factor (VEGF)/Vascular Endothelial Growth Factor Receptor (VEGFR) Therapy
- A Study of Semagacestat for Alzheimer's Patients
- A Study of Teclistamab With Other Anticancer Therapies in Participants With Multiple Myeloma
- A Study to Assess the Effects of 2 Different Prothrombin Complex Concentrates on the Pharmacodynamics of Rivaroxaban in Healthy Adult Volunteers
- A Study to Assess the Effects of 2 Prothrombin Complex Concentrates on the Pharmacodynamics of Apixaban in Healthy Adult Subjects
- [A Study to Examine the Effects of Novel Therapy Linvoseltamab in Combination With Other Cancer Treatments for Adult Participants With Multiple Myeloma That is Resistant to Current Standard of Care Treatments](https://trialight.com/data/trial/a-study-to-examine-the-effects-of-novel-therapy-4622f07a-ab31-4a56-a46c-08b2e34a9258.md)
- A Study to Investigate Safety and Clinical Activity of Belantamab Mafodotin in Combination With Lenalidomide, Dexamethasone and Nirogacestat in Patients With Transplant Ineligible Newly Diagnosed Multiple Myeloma
- A Trial In Patients With Advanced Cancer And Leukemia
- A Two-part Study in Edoxaban-treated Healthy Subjects to Establish a Punch Biopsy Bleeding Model and to Evaluate the Effect of a 4-factor Prothrombin Complex Concentrate on Anticoagulation
- Acute Dose-dependent Effects of DMT in Healthy Subjects

### Drugs (7)

- Avagacestat Gamma-secretase inhibitor
- Begacestat Gamma-secretase inhibitor
- [Nirogacestat](https://trialight.com/data/asset/nirogacestat-3fcb771a-72a0-450b-adde-a88a42aee6e0.md) Gamma-secretase inhibitor
- Nirogacestat hydrobromide Gamma-secretase inhibitor
- RG-4733 Gamma-secretase inhibitor
- Semagacestat Gamma-secretase inhibitor
- Tarenflurbil Gamma-secretase modulator

---

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