Homo sapiens Gene: PSEN2
Summary
InnateDB Gene IDBG-107053.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PSEN2
Gene Name presenilin 2 (Alzheimer disease 4)
Synonyms AD3L; AD4; CMD1V; PS2; STM2;
Species Homo sapiens
Ensembl Gene ENSG00000143801
Encoded Proteins
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
presenilin 2 (Alzheimer disease 4)
Protein Structure
Entrez Gene
Summary 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 the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
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 the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:226870184-226896102
Strand Forward strand
Band q42.13
Transcripts
ENST00000366783 ENSP00000355747
ENST00000366782 ENSP00000355746
ENST00000422240 ENSP00000403737
ENST00000524196 ENSP00000429036
ENST00000495488 ENSP00000429682
ENST00000521431
ENST00000460775 ENSP00000427912
ENST00000472139 ENSP00000427806
ENST00000487450
ENST00000471728
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 77 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 77 [view]
Protein-Protein 73 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005515 protein binding
Biological Process
GO:0001666 response to hypoxia
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0001933 negative regulation of protein phosphorylation
GO:0001942 hair follicle development
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002286 T cell activation involved in immune response
GO:0002573 myeloid leukocyte differentiation
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0006816 calcium ion transport
GO:0007176 regulation of epidermal growth factor-activated receptor activity
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0007611 learning or memory
GO:0007613 memory
GO:0015031 protein transport
GO:0016485 protein processing
GO:0021904 dorsal/ventral neural tube patterning
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0031293 membrane protein intracellular domain proteolysis
GO:0031333 negative regulation of protein complex assembly
GO:0032091 negative regulation of protein binding
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0035556 intracellular signal transduction
GO:0040011 locomotion
GO:0042640 anagen
GO:0042987 amyloid precursor protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0043393 regulation of protein binding
GO:0044267 cellular protein metabolic process
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048167 regulation of synaptic plasticity
GO:0048286 lung alveolus development
GO:0048538 thymus development
GO:0048854 brain morphogenesis
GO:0050435 beta-amyloid metabolic process
GO:0050820 positive regulation of coagulation
GO:0050852 T cell receptor signaling pathway
GO:0051604 protein maturation
GO:0060048 cardiac muscle contraction
GO:0097190 apoptotic signaling pathway
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001234 negative regulation of apoptotic signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0000776 kinetochore
GO:0005637 nuclear inner membrane
GO:0005743 mitochondrial inner membrane
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030018 Z disc
GO:0030424 axon
GO:0030426 growth cone
GO:0031594 neuromuscular junction
GO:0035253 ciliary rootlet
GO:0036064 ciliary basal body
GO:0043025 neuronal cell body
GO:0043198 dendritic shaft
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Notch pathway
REACTOME
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Developmental Biology pathway
Signalling by NGF pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
Signaling by ERBB4 pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
Axon guidance pathway
p75 NTR receptor-mediated signalling pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signaling by NOTCH4 pathway
Signal Transduction pathway
Regulated proteolysis of p75NTR pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH3 pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
NRIF signals cell death from the nucleus pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
EPH-ephrin mediated repulsion of cells pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
EPH-Ephrin signaling pathway
Activated NOTCH1 Transmits Signal to the Nucleus pathway
Nuclear signaling by ERBB4 pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Disease pathway
KEGG
Notch signaling pathway pathway
Neurotrophin signaling pathway pathway
Alzheimer's disease pathway
INOH
Notch signaling pathway pathway
PID BIOCARTA
Hiv-1 nef: negative effector of fas and tnf [Biocarta view]
PID NCI
LKB1 signaling events
Cross-References
SwissProt P49810
TrEMBL B1AP22 B4DVM3 E5RFW4 E5RG63 E5RHT1 E5RJM5
UniProt Splice Variant
Entrez Gene 5664
UniGene Hs.25363
RefSeq NM_000447 NM_012486 XM_005273199
HUGO HGNC:9509
OMIM 600759
CCDS CCDS1556 CCDS44324
HPRD 02860
IMGT
EMBL AF416718 AK292299 AK301143 AL359732 AL391628 BC006365 BT006984 CH471098 L43964 L44577 U34349 U50871
GenPept AAB50054 AAB59557 AAC42012 AAC50290 AAH06365 AAL16812 AAP35630 BAF84988 BAG62735 CAH73110 EAW69797 EAW69798 EAW69800
ImmGen PSEN2 (murine)
RNA Seq Atlas 5664