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 ... See more...

Aliases for PSEN2 Gene

Aliases for PSEN2 Gene

  • Presenilin 2 2 3 5
  • Alzheimer Disease 4 2 3
  • Presenilin-2 3 4
  • 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 52
  • 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 LKB1 signaling events and ERK Signaling. Gene Ontology (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 Summary 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 (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. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria (PubMed:21285369).

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

Additional gene information for PSEN2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSEN2 Gene

Genomics for PSEN2 Gene

GeneHancer (GH) Regulatory Elements for PSEN2 Gene

Promoters and enhancers for PSEN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J226869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 540.8 +1.4 1414 3.6 HNRNPK CTCF NRF1 POLR2G PHF8 ZFX POLR2A ZBTB11 RBM34 ZBTB26 PSEN2 LOC105373119 lnc-CDC42BPA-3 lnc-COQ8A-4 COQ8A lnc-COQ8A-3
GH01J226813 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 39.5 -52.2 -52174 10 ZNF217 ZSCAN5C ZNF300 JUND FOS ZNF639 ZNF10 ZIC2 POLR2A TRIM28 piR-52471-001 PSEN2 ZNF678 ITPKB STUM COQ8A HSALNG0011109
GH01J226826 Enhancer 1.5 VISTA ENCODE CraniofacialAtlas dbSUPER 39 -42.1 -42138 2.4 RXRA ZBTB40 CTCF SP1 ZFX ZNF639 ZIC2 ZNF423 GABPA TARDBP ENSG00000287259 PSEN2 ZNF678 HSALNG0011113
GH01J226881 Promoter/Enhancer 1.1 Ensembl ENCODE 39.8 +13.0 13021 3.1 ZSCAN5C SIN3A ZNF300 ZNF10 RCOR1 REST NR2F2 POLR2A NFIC CHD1 PSEN2 ZNF678 ITPKB lnc-COQ8A-3 lnc-COQ8A-4
GH01J226873 Enhancer 0.8 ENCODE 40.6 +5.0 4965 2.8 ZSCAN5C ZNF639 ZNF10 ZBTB10 TRIM28 ATF2 ZNF316 SP2 ZBTB17 TCF7L2 PSEN2 COQ8A CDC42BPA lnc-COQ8A-4 lnc-COQ8A-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSEN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSEN2

Top Transcription factor binding sites by QIAGEN in the PSEN2 gene promoter:
  • AREB6
  • p53
  • RORalpha1
  • SRF
  • SRF (504 AA)

Genomic Locations for PSEN2 Gene

Genomic Locations for PSEN2 Gene
chr1:226,870,184-226,896,105
(GRCh38/hg38)
Size:
25,922 bases
Orientation:
Plus strand
chr1:227,057,885-227,083,806
(GRCh37/hg19)
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

Selected DME Specific Peptides for PSEN2 Gene

P49810:
  • EELTLKYGA
  • AILIGLCLTLLLLA
  • ALMALVFIKYLPEW
  • SGDWNTT
  • WNFGAVGM
  • IMISVIVVMT
  • ISVYDLVAVL
  • KTYNVAMDY
  • VPVTLCM
  • FKKALPALP
  • EEDPDRY
  • EERGVKLGLGDF
  • GEPSYPEVFE
  • FIKYLPEWSAWVILGAIS
  • ETAQERN
  • IHWKGPL
  • KLGLGDFIFYS
  • LQQAYLI
  • VVVATIKSV
  • LYKYRCYK
  • FPALIYSS
  • ERTSLMSAESP
  • AVLCPKGPLR
  • GQLIYTPFTE

Post-translational modifications for PSEN2 Gene

Antibody Products

  • Boster Bio Antibodies for PSEN2

Domains & Families for PSEN2 Gene

Gene Families for PSEN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PSEN2 Gene

Blocks:
  • Presenilin 2 signature
  • Presenilin signal peptide peptidase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSEN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77434, highly similar to Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA (A8K8D4_HUMAN)
  • Presenilin 2 (Alzheimer disease 4), isoform CRA_b (B1AP22_HUMAN)
  • cDNA FLJ51336, highly similar to Presenilin-2 (EC 3.4.23.-) (B4DVM3_HUMAN)
  • STM-2 (PSN2_HUMAN)

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

Function for PSEN2 Gene

Molecular function for PSEN2 Gene

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 (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. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria (PubMed:21285369).
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

Enzyme Numbers (IUBMB) for PSEN2 Gene

Phenotypes From GWAS Catalog for PSEN2 Gene

Gene Ontology (GO) - Molecular Function for PSEN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IBA 21873635
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 10366599
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PSEN2: view
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

  • Taconic Biosciences Mouse Models for PSEN2

miRNA for PSEN2 Gene

miRTarBase miRNAs that target PSEN2

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSEN2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
mitochondrion 4
endoplasmic reticulum 4
lysosome 4
golgi apparatus 4
endosome 3
extracellular 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSEN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000776 kinetochore IDA 9298903
GO:0005634 nucleus IBA 21873635
GO:0005637 nuclear inner membrane IDA 9298903
GO:0005743 mitochondrial inner membrane IBA 21873635
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

Pathways by source for PSEN2 Gene

3 GeneGo (Thomson Reuters) pathways for PSEN2 Gene
  • Development MAG-dependent inhibition of neurite outgrowth
  • Development Notch Signaling Pathway
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
1 Tocris pathway for PSEN2 Gene
5 Qiagen pathways for PSEN2 Gene
  • Alzheimers Disease Pathway
  • ErbB4 Pathway
  • Molecular Mechanisms of Cancer
  • Notch Signaling
  • Presenilin-Mediated Signaling
2 Cell Signaling Technology pathways for PSEN2 Gene

SIGNOR curated interactions for PSEN2 Gene

Is activated by:
Other effect:

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,IBA 15274632
GO:0006816 calcium ion transport IBA 21873635
GO:0007219 Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with PSEN2: view

Drugs & Compounds for PSEN2 Gene

(33) Drugs for PSEN2 Gene - From: ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSI-136 Investigational Pharma 0
Semagacestat Investigational Pharma 0
BMS 299897 Pharma γ--secretase inhibitor, potent and orally active, Potent gamma-secretase inhibitor 0
BMS-299897 Pharma 0
BMS-708163 Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Compound W
173550-33-9
DAPT
208255-80-5

(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

(1) ApexBio Compounds for PSEN2 Gene

Compound Action Cas Number
BMS 299897 γ--secretase inhibitor, potent and orally active 290315-45-6
genes like me logo Genes that share compounds with PSEN2: view

Drug Products

Transcripts for PSEN2 Gene

mRNA/cDNA for PSEN2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for PSEN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PSEN2 Gene



Protein tissue co-expression partners for PSEN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSEN2

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.

Evidence on tissue expression from TISSUES for PSEN2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Intestine(4.2)
  • Muscle(4.2)
  • Adrenal gland(2.3)
  • Kidney(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PSEN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with PSEN2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PSEN2 31 30
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PSEN2 31 30
  • 91.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PSEN2 31 30
  • 90.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Psen2 17 31 30
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Psen2 30
  • 89.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PSEN2 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSEN2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSEN2 31 30
  • 72.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSEN2 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psen2 30
  • 67.73 (n)
zebrafish
(Danio rerio)
Actinopterygii psen2 31 30
  • 69.37 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002957 30
  • 62.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psn 31 30
  • 58.58 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sel-12 31 32
  • 48 (a)
ManyToMany
hop-1 31 32
  • 32 (a)
ManyToMany
spe-4 31
  • 18 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os01g0276400 30
  • 55.21 (n)
Os.11448 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1400 31
  • 61 (a)
OneToMany
Species where no ortholog for PSEN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PSEN2: view image

Paralogs for PSEN2 Gene

Paralogs for PSEN2 Gene

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

  • PSN2_HUMAN
  • B1AP22_HUMAN
  • C9J5P7_HUMAN
  • E5RFW4_HUMAN
  • E5RG63_HUMAN
  • E5RHT1_HUMAN
  • E5RJ26_HUMAN
  • E5RJM5_HUMAN
genes like me logo Genes that share paralogs with PSEN2: view

Variants for PSEN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSEN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
646449 Uncertain Significance: Alzheimer disease, type 4 226,883,804(+) C/T MISSENSE_VARIANT
651353 Uncertain Significance: Alzheimer disease, type 4 226,883,868(+) T/C MISSENSE_VARIANT
652702 Uncertain Significance: Alzheimer disease, type 4 226,889,034(+) G/A MISSENSE_VARIANT
695572 Benign: not provided 226,895,432(+) T/C SYNONYMOUS_VARIANT
695724 Likely Benign: not provided 226,888,112(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PSEN2 Gene

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

Variant ID Type Subtype PubMed ID
nsv4766 CNV deletion 18451855
nsv952130 CNV deletion 24416366

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)

Additional Variant Information for PSEN2 Gene

Human Gene Mutation Database (HGMD)
PSEN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSEN2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PSEN2 Gene

MalaCards: The human disease database

(38) MalaCards diseases for PSEN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease 4
  • ad4
cardiomyopathy, dilated, 1v
  • cmd1v
early-onset, autosomal dominant alzheimer disease
  • early-onset autosomal dominant alzheimer disease
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- 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 constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269 PubMed:10631141, ECO:0000269 PubMed:10732806, ECO:0000269 PubMed:14681895, ECO:0000269 PubMed:16752394, ECO:0000269 PubMed:16959576, ECO:0000269 PubMed:21285369, ECO:0000269 PubMed:21544564, ECO:0000269 PubMed:22503161, ECO:0000269 PubMed:24838186, ECO:0000269 PubMed:24844686, 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.

Additional Disease Information for PSEN2

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

No data available for Genatlas for PSEN2 Gene

Publications for PSEN2 Gene

  1. 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 (Journal of the neurological sciences 2008) 3 23 41 54
  2. Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population. (PMID: 18087668) Gacia M … Barcikowska M (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 23 41 54
  3. 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 (Archives of neurology 2003) 3 23 41 54
  4. Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD. (PMID: 12232783) Riazanskaia N … Rogaev E (Molecular psychiatry 2002) 3 23 41 54
  5. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince JA … Brookes AJ (European journal of human genetics : EJHG 2001) 3 23 41 54

Products for PSEN2 Gene

  • Signalway ELISA kits for PSEN2
  • Signalway Proteins for PSEN2

Sources for PSEN2 Gene