Gene table of PSEN2 : presenilin 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PSEN2OMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
104300ALZHEIMER DISEASEClinVar link to OMIM 13MPO, ACE, APBB2, APP, A2M, PAXIP1, NOS3, PSEN2, PLAU, BLMH, PSEN1, HFE, SORL1
606889ALZHEIMER DISEASE 4ClinVar, OMIM, HUMSAVAR link to OMIM 2PSEN2, PSEN1

Download the gene annotation in CSV format

Annotation of the gene PSEN2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Notch signaling pathwayhsa043307.12
Neurotrophin signaling pathwayhsa047225.78
Alzheimer's diseasehsa050105.34
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by NOTCHR-HSA-1571186.2
p75 NTR receptor-mediated signallingR-HSA-1937046.59
Signaling by ERBB4R-HSA-12363944.7
Developmental BiologyR-HSA-12667383.48
Activated NOTCH1 Transmits Signal to the NucleusR-HSA-21229488.08
Signalling by NGFR-HSA-1665204.23
Signaling by NOTCH4R-HSA-19801509.52
DiseaseR-HSA-16436853.33
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsR-HSA-28948627.15
Diseases of signal transductionR-HSA-56632024.89
NRIF signals cell death from the nucleusR-HSA-2050439.08
EPH-Ephrin signalingR-HSA-26823346.43
Nuclear signaling by ERBB4R-HSA-12519857.7
Regulated proteolysis of p75NTRR-HSA-1936929.66
Signaling by NOTCH1R-HSA-19801436.81
Signaling by NOTCH2R-HSA-19801457.98
EPH-ephrin mediated repulsion of cellsR-HSA-39286657.34
Signaling by NOTCH1 in CancerR-HSA-26446037.15
Signaling by NOTCH1 PEST Domain Mutants in CancerR-HSA-26446027.15
Constitutive Signaling by NOTCH1 PEST Domain MutantsR-HSA-26446067.15
Signaling by NOTCH3R-HSA-19801489.52
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerR-HSA-28948587.15
Cell death signalling via NRAGE, NRIF and NADER-HSA-2049987.05
Axon guidanceR-HSA-4224753.93
Signal TransductionR-HSA-1625821.78
NOTCH2 Activation and Transmission of Signal to the NucleusR-HSA-29790968.59
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
endopeptidase activityGO:00041753.63
aspartic-type peptidase activityGO:00700016.1
catalytic activityGO:00038241.05
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
aspartic-type endopeptidase activityGO:00041906.13
bindingGO:00054880.18
protein bindingGO:00055150.46
peptidase activityGO:00082333.23