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Psen2
Gene Detail
 Symbol
Name
ID
Psen2
presenilin 2
MGI:109284
Synonyms Ad4h, ALG-3, PS2, PS-2
Feature Type protein coding gene
Genetic Map
Chromosome 1
84.19 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:180227004-180263438 bp, - strand
From VEGA annotation of GRCm38

  36435 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:386  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: presenilin
Gene Tree: Psen2

Human
homologs
Human Homolog PSEN2, presenilin 2
NCBI Gene ID 5664
neXtProt AC  NX_P49810
Human Synonyms  AD3L, AD4, CMD1V, PS2, STM2
Human Chr (Location)  1q42.13; chr1:226870572-226896103 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human PSEN2
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(4) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage.
 
Human Diseases Modeled Using Mouse Psen2 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Psen2 interacts with 99 markers (Mir17, Mir20a, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (97 annotations)
Process amyloid precursor protein catabolic process, anagen, ...
Component apical plasma membrane, axon, ...
Function aspartic endopeptidase activity, intramembrane cleaving, aspartic-type endopeptidase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (72)    Tissues (45)    Images (20)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 71
RT-PCR 1
cDNA source data(57)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(60) cDNA(59) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000021488 (Evidence)
Ensembl Gene ModelENSMUSG00000010609 (Evidence)
Entrez Gene19165 (Evidence)
UniGene330850
DFCITC1578022, TC1587936, TC1595715
DoTSDT.101367826, DT.101740882, DT.110943034, DT.492667, DT.55163959, DT.94248823
NIA Mouse Gene IndexU022137
EC3.4.23.-
Consensus CDS ProjectCCDS15567.1
International Mouse Knockout Project StatusPsen2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021488 VEGA Gene Model | MGI Sequence Detail 36435 C57BL/6J ±  kb
transcript OTTMUST00000050928 VEGA | MGI Sequence Detail 2020 Not Applicable 
polypeptide OTTMUSP00000023895 VEGA | MGI Sequence Detail 448 Not Applicable 

For the selected sequences
All sequences(76) RefSeq(7) UniProt(4)
Polymorphisms SNPs within 2kb(327 from dbSNP Build 137)    SNPs within 2kb including multiple locations(349)
Protein-related
information
ResourceIDDescription
InterPro IPR001108 Peptidase A22A, presenilin
InterPro IPR001493 Peptidase A22A, presenilin 2
InterPro IPR006639 Peptidase A22, presenilin signal peptide
Protein Ontology PR:000013345 presenilin-2
References (Earliest) J:42424 Pericak-Vance MA, et al., Genetic susceptibility to Alzheimer disease. Trends Genet. 1995 Dec;11(12):504-8
(Latest) J:210440 Dong Z, et al., Ibuprofen partially attenuates neurodegenerative symptoms in presenilin conditional double-knockout mice. Neuroscience. 2014 Jun 13;270:58-68
All references(142)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-38329, MGI:2138190

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory