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Aliases for PSEN2 Gene

Aliases for PSEN2 Gene

  • Presenilin 2 2 3 5
  • Alzheimer Disease 4 2 3
  • AD3LP 3 4
  • STM-2 3 4
  • E5-1 3 4
  • PS-2 3 4
  • STM2 3 4
  • AD4 3 4
  • AD5 3 4
  • PS2 3 4
  • EC 3.4.23.- 4
  • EC 3.4.23 63
  • CMD1V 3
  • PSNL2 4
  • AD3L 3

External Ids for PSEN2 Gene

Previous HGNC Symbols for PSEN2 Gene

  • AD4

Previous GeneCards Identifiers for PSEN2 Gene

  • GC01P225587
  • GC01P222803
  • GC01P223443
  • GC01P224033
  • GC01P224032
  • GC01P223365
  • GC01P225124
  • GC01P227058
  • GC01P197575

Summaries for PSEN2 Gene

Entrez Gene Summary for PSEN2 Gene

  • 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]

GeneCards Summary for PSEN2 Gene

PSEN2 (Presenilin 2) is a Protein Coding gene. Diseases associated with PSEN2 include alzheimer disease-4 and cardiomyopathy, dilated, 1v. Among its related pathways are Signaling by GPCR and Alzheimers Disease Pathway. GO annotations related to this gene include endopeptidase activity and aspartic-type endopeptidase activity. An important paralog of this gene is PSEN1.

UniProtKB/Swiss-Prot for PSEN2 Gene

  • 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 (beta-amyloid 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.

Tocris Summary for PSEN2 Gene

  • gamma-secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. gamma-secretase is involved in the processing of Notch.

Gene Wiki entry for PSEN2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSEN2 Gene

Genomics for PSEN2 Gene

Regulatory Elements for PSEN2 Gene

Promoters for PSEN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSEN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSEN2 Gene

Chromosome:
1
Start:
226,870,184 bp from pter
End:
226,896,105 bp from pter
Size:
25,922 bases
Orientation:
Plus strand

Genomic View for PSEN2 Gene

Genes around PSEN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSEN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSEN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSEN2 Gene

Proteins for PSEN2 Gene

  • Protein details for PSEN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49810-PSN2_HUMAN
    Recommended name:
    Presenilin-2
    Protein Accession:
    P49810
    Secondary Accessions:
    • A8K8D4
    • B1AP21
    • Q96P32

    Protein attributes for PSEN2 Gene

    Size:
    448 amino acids
    Molecular mass:
    50140 Da
    Quaternary structure:
    • Interacts with DOCK3 (By similarity). Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Interacts with HERPUD1, FLNA, FLNB and PARL.

    Alternative splice isoforms for PSEN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSEN2 Gene

Proteomics data for PSEN2 Gene at MOPED

Post-translational modifications for PSEN2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSEN2 (PSEN2)

Domains & Families for PSEN2 Gene

Graphical View of Domain Structure for InterPro Entry

P49810

UniProtKB/Swiss-Prot:

PSN2_HUMAN :
  • The PAL motif is required for normal active site conformation.
  • Belongs to the peptidase A22A family.
Domain:
  • The PAL motif is required for normal active site conformation.
Family:
  • Belongs to the peptidase A22A family.
genes like me logo Genes that share domains with PSEN2: view

No data available for Gene Families for PSEN2 Gene

Function for PSEN2 Gene

Molecular function for PSEN2 Gene

GENATLAS Biochemistry:
presenilin 2,forming a multimeric complex with catenin beta (CTNNB1),expressed in several parts of the brain in cardiac and skeletal muscle,in pancreas,predominantly located in intracellular membranous organelles such as nuclear envelope,endoplasmic reticulum and Golgi apparatus with 80% homology to S182 (C. elegans Sel-12 gene),interacting with Rab11 and may be involved in APP vesicular trafficking to the right compartment for activity,homologous to C elegans SPE-4,controlling the alpha secretase derived product APP alpha
UniProtKB/Swiss-Prot Function:
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 (beta-amyloid 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.

Enzyme Numbers (IUBMB) for PSEN2 Gene

genes like me logo Genes that share phenotypes with PSEN2: view

Human Phenotype Ontology for PSEN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSEN2 Gene

MGI Knock Outs for PSEN2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for PSEN2 Gene

Localization for PSEN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSEN2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSEN2 Gene COMPARTMENTS Subcellular localization image for PSEN2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytosol 3
mitochondrion 2
extracellular 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PSEN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 9298903
GO:0005783 endoplasmic reticulum IDA 15274632
GO:0005813 centrosome IDA 9298903
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IBA --
genes like me logo Genes that share ontologies with PSEN2: view

Pathways & Interactions for PSEN2 Gene

genes like me logo Genes that share pathways with PSEN2: view

SIGNOR curated interactions for PSEN2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PSEN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006508 proteolysis IEA --
GO:0006509 membrane protein ectodomain proteolysis IDA 15274632
GO:0006816 calcium ion transport IBA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with PSEN2: view

Drugs & Compounds for PSEN2 Gene

(28) Drugs for PSEN2 Gene - From: Novoseek and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BMS-299897 Pharma 0
BMS-708163 Pharma 0
GSI-136 Pharma 0
MK0752 Pharma inhibitor, other Notch signaling pathway inhibitor, Other 0
SEMAGACESTAT Pharma 0

(26) Additional Compounds for PSEN2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BMS 299897
290315-45-6
Compound W
173550-33-9
DAPT
208255-80-5
JLK 6
62252-26-0
L-685,458
292632-98-5

(5) Tocris Compounds for PSEN2 Gene

Compound Action Cas Number
BMS 299897 Potent gamma-secretase inhibitor 290315-45-6
Compound W gamma-secretase inhibitor 173550-33-9
DAPT gamma-secretase inhibitor 208255-80-5
JLK 6 Inhibitor of gamma-secretase-mediated betaAPP processing 62252-26-0
L-685,458 Potent and selective gamma-secretase inhibitor 292632-98-5
genes like me logo Genes that share compounds with PSEN2: view

Transcripts for PSEN2 Gene

Unigene Clusters for PSEN2 Gene

Presenilin 2 (Alzheimer disease 4):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSEN2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - -
SP2: - -
SP3:
SP4: - - - - - - - -
SP5: -
SP6: - - -
SP7: - - -
SP8:

Relevant External Links for PSEN2 Gene

GeneLoc Exon Structure for
PSEN2
ECgene alternative splicing isoforms for
PSEN2

Expression for PSEN2 Gene

mRNA expression in normal human tissues for PSEN2 Gene

Protein differential expression in normal tissues from HIPED for PSEN2 Gene

This gene is overexpressed in Testis (44.7), Pancreas (13.0), and Prostate (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSEN2 Gene



SOURCE GeneReport for Unigene cluster for PSEN2 Gene Hs.25363

mRNA Expression by UniProt/SwissProt for PSEN2 Gene

P49810-PSN2_HUMAN
Tissue specificity: Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.
genes like me logo Genes that share expression patterns with PSEN2: view

Protein tissue co-expression partners for PSEN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PSEN2 Gene

Orthologs for PSEN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSEN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSEN2 35
  • 91.82 (n)
  • 96.87 (a)
PSEN2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSEN2 35
  • 90.62 (n)
  • 95.98 (a)
PSEN2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psen2 35
  • 89.58 (n)
  • 95.98 (a)
Psen2 16
Psen2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSEN2 35
  • 99.33 (n)
  • 99.78 (a)
PSEN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psen2 35
  • 89.51 (n)
  • 95.31 (a)
oppossum
(Monodelphis domestica)
Mammalia PSEN2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSEN2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSEN2 35
  • 72.02 (n)
  • 79.53 (a)
PSEN2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSEN2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psen2 35
  • 67.73 (n)
  • 75.74 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
psen2 35
  • 69.37 (n)
  • 74.01 (a)
psen2 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002957 35
  • 62.4 (n)
  • 63.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta Psn 35
  • 58.58 (n)
  • 57.21 (a)
Psn 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hop-1 37
  • 31 (a)
sel-12 37
  • 53 (a)
hop-1 36
  • 32 (a)
ManyToMany
sel-12 36
  • 48 (a)
ManyToMany
spe-4 36
  • 18 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.11448 35
Os01g0276400 35
  • 55.21 (n)
  • 48.02 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1400 36
  • 61 (a)
OneToMany
Species with no ortholog for PSEN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSEN2 Gene

ENSEMBL:
Gene Tree for PSEN2 (if available)
TreeFam:
Gene Tree for PSEN2 (if available)

Paralogs for PSEN2 Gene

Paralogs for PSEN2 Gene

(1) SIMAP similar genes for PSEN2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PSEN2: view

Variants for PSEN2 Gene

Sequence variations from dbSNP and Humsavar for PSEN2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs58973334 - 226,883,748(+) TGACC(A/G)CTATG intron-variant, nc-transcript-variant, reference, missense
VAR_006462 Alzheimer disease 4 (AD4)
rs28936379 Alzheimer disease 4 (AD4) 226,888,977(+) CGCTC(A/G)TGGCC nc-transcript-variant, reference, missense
VAR_007958 Alzheimer disease 4 (AD4)
VAR_009214 Alzheimer disease 4 (AD4)

Structural Variations from Database of Genomic Variants (DGV) for PSEN2 Gene

Variant ID Type Subtype PubMed ID
nsv4766 CNV Loss 18451855

Variation tolerance for PSEN2 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSEN2 Gene

HapMap Linkage Disequilibrium report
PSEN2
Human Gene Mutation Database (HGMD)
PSEN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSEN2 Gene

Disorders for PSEN2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for PSEN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease-4
  • alzheimer disease type 4
cardiomyopathy, dilated, 1v
  • cardiomyopathy, dilated 1v
early-onset, autosomal dominant alzheimer disease
  • early-onset autosomal dominant alzheimer disease
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
psen2-related dilated cardiomyopathy
  • dilated cardiomyopathy 1v
- elite association - COSMIC cancer census association via MalaCards
Search PSEN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PSN2_HUMAN
  • Alzheimer disease 4 (AD4) [MIM:606889]: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269 PubMed:10631141, ECO:0000269 PubMed:10732806, ECO:0000269 PubMed:22503161, ECO:0000269 PubMed:7638622, ECO:0000269 PubMed:7651536, ECO:0000269 PubMed:9384602}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1V (CMD1V) [MIM:613697]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:17186461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PSEN2

Genetic Association Database (GAD)
PSEN2
Human Genome Epidemiology (HuGE) Navigator
PSEN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSEN2
genes like me logo Genes that share disorders with PSEN2: view

No data available for Genatlas for PSEN2 Gene

Publications for PSEN2 Gene

  1. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. (PMID: 12925374) Ezquerra M. … Oliva R. (Arch. Neurol. 2003) 3 23 48 67
  2. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. (PMID: 20375137) Jayadev S. … Bird T.D. (Brain 2010) 3 23
  3. Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake. (PMID: 19382908) Brunello L. … Fasolato C. (J. Cell. Mol. Med. 2009) 3 23
  4. Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue. (PMID: 19573580) Ounallah-Saad H. … Levy-Lahad E. (Gene 2009) 3 23
  5. The association of the regulatory region of the presenilin-2 gene with Alzheimer's disease in the Northern Han Chinese population. (PMID: 17727891) Liu Z. … Jia J. (J. Neurol. Sci. 2008) 3 23

Products for PSEN2 Gene

Sources for PSEN2 Gene

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