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Tchem
PSEN2
Presenilin-2

Protein Summary
Description
Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000366783
  • ENSP00000355747
  • ENSG00000143801
  • ENST00000422240
  • ENSP00000403737

Symbol
  • AD4
  • PS2
  • PSNL2
  • STM2
  • AD4
  • PS2
  • AD3L
  • STM2
  • CMD1V
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
cellular component
0.83
transcription factor binding site profile
0.77
hub protein
0.71
kinase perturbation
0.71


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 828.23   (req: < 5)
Gene RIFs: 127   (req: <= 3)
Antibodies: 404   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 828.23   (req: >= 5)
Gene RIFs: 127   (req: > 3)
Antibodies: 404   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 7
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (23)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
neutrophil count
3
3
3
92.7
myeloid white cell count
2
2
2
85
neutrophil percentage of leukocytes
2
2
2
80.6
lymphocyte percentage of leukocytes
2
2
2
80.3
leukocyte count
1
1
1
70
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
neutrophil count
3
92.7
myeloid white cell count
2
85
neutrophil percentage of leukocytes
2
80.6
lymphocyte percentage of leukocytes
2
80.3
leukocyte count
1
70
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
presenilin 2
VGNC:1474
457790
Macaque
presenilin 2
698770
Mouse
MGI:109284
19165
Rat
RGD:621060
81751
Dog
presenilin 2
VGNC:45086
490382
Species
Name
OMA
EggNOG
Inparanoid
Chimp
presenilin 2
Macaque
presenilin 2
Mouse
Rat
Dog
presenilin 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P49810-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (46)
Activated NOTCH1 Transmits Signal to the Nucleus (R-HSA-2122948)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 30
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activated NOTCH1 Transmits Signal to the Nucleus
Reactome
Axon guidance
Reactome
Cell death signalling via NRAGE, NRIF and NADE
Reactome
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Reactome
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Name
Explore in Pharos
Explore in Source
Activated NOTCH1 Transmits Signal to the Nucleus
Axon guidance
Cell death signalling via NRAGE, NRIF and NADE
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Protein-Protein Interactions (156)
1 – 10 of 156
RNF115
Tbio
Family:  Enzyme
Novelty:  0.03523706
p_int:  0.896323219
p_ni:  0.103676065
p_wrong:  7.17e-7
Score:  0.359
Data Source:  BioPlex,STRINGDB
NPLOC4
Tbio
Novelty:  0.01690434
p_int:  0.75272855
p_ni:  0.24727145
Score:  0.381
Data Source:  BioPlex,STRINGDB
APH1B
Tbio
Family:  Enzyme
Novelty:  0.03620802
Score:  0.999
Data Source:  Reactome,STRINGDB
NCSTN
Tbio
Novelty:  0.00453935
Score:  0.999
Data Source:  Reactome,STRINGDB
PSENEN
Tchem
Family:  Enzyme
Novelty:  0.00118125
Score:  0.999
Data Source:  Reactome,STRINGDB
APH1A
Tbio
Family:  Enzyme
Novelty:  0.00794922
Score:  0.999
Data Source:  Reactome,STRINGDB
PSEN1
Tchem
Family:  Enzyme
Novelty:  0.00024189
Score:  0.998
Data Source:  STRINGDB
NOTCH3
Tchem
Novelty:  0.000953
Score:  0.982
Data Source:  Reactome,STRINGDB
APP
Tchem
Novelty:  0.00008964
Score:  0.981
Data Source:  STRINGDB
NOTCH1
Tchem
Novelty:  0.00012547
Score:  0.981
Data Source:  Reactome,STRINGDB
Publication Statistics
PubMed Score  828.23

PubMed score by year
PubTator Score  439.34

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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