PSEN2
ENSG00000143801
Target class
Ion channel
Chromosome
1
Approved drugs
2
Clinical candidates (approved and in development)
7
- Approved drugs
- 2
- ClinGen gene-disease validity
- Limited
- Clinical candidates (approved and in development)
- 7
- Chemical probe available
- No
- 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]
- AD3L
- STM2
- PS2
- PS-2
- E5-1
- Gene biotype
- Protein coding
- Gene family
- Presenilin family|Gamma-secretase complex subunits
- Target class
- Ion channel
- Target type
- Human gene
- Tissues expressed in
- 54
- Highest tissue expression
- 24.19
- Tissue specificity (Gini)
- 0.244
- Tissue specificity (tau)
- 0.469
- KEGG gene identifiers
- hsa:5664
- Protein interaction confidence
- 0.869054
- Protein interaction partners
- 37
- 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
- End position
- 226927726
- Start position
- 226870184
- Chromosome
- 1
- Strand
- Forward
- 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). .
- PubMed 8574969
- PubMed 27293189
- Tissue specificity (tau)
- 0.468812
- Expression inequality (Gini)
- 0.244446
Expression in transcripts per million
- Uterus
- 24.19
- Pituitary
- 23.17
- Brain - Cerebellum
- 22.92
- Esophagus - Muscularis
- 22.61
- Testis
- 22.19
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.
- GO:0006509
- GO:0007220
- GO:0016485
- GO:0034205
- GO:0035333
- GO:0042987
- GO:0110097
- GO:1990456
- GO:0000139
- GO:0000776
- GO:0005637
- GO:0005764
- GO:0005765
- GO:0005770
- GO:0005783
- GO:0005789
- GO:0005794
- GO:0005813
- GO:0005886
- GO:0016020
- GO:0031902
- GO:0032991
- GO:0070765
- GO:0005515
- 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
- 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 Gamma-secretase inhibitor
- Nirogacestat hydrobromide Gamma-secretase inhibitor
- RG-4733 Gamma-secretase inhibitor
- Semagacestat Gamma-secretase inhibitor
- Tarenflurbil Gamma-secretase modulator