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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PSEN2
Protein SuperFamily: presenilin
Gene Tree: Psen2

Human
homologs
PSEN2, presenilin 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5664
neXtProt AC: NX_P49810

Human Synonyms: AD3L, AD4, CMD1V, PS2, STM2

Human Chr (Location): 1q42.13; chr1:226870572-226896103 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human PSEN2

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(4) Targeted(4) Transgenic(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage.
 
Mutations Annotated to Human Diseases (5)    Phenotype Images(2)
Interactions
Psen2 interacts with 99 markers (Mir17, Mir20a, Mir20b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (15 records)
Data Summary: Results (72)    Tissues (45)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 71
RT-PCR 1
cDNA source data(57)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase psen2 ; ZFIN psen2    NEW 
Molecular
reagents
All nucleic(60) cDNA(59) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000021488 (Evidence)
Ensembl Gene Model ENSMUSG00000010609 (Evidence)
Entrez Gene 19165 (Evidence)
UniGene 330850
DFCI TC1578022, TC1587936, TC1595715
DoTS DT.101367826, DT.101740882, DT.110943034, DT.492667, DT.55163959, DT.94248823
NIA Mouse Gene Index U022137
EC 3.4.23.-
Consensus CDS Project CCDS15567.1
International Mouse Phenotyping Consortium Status Psen2
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(80) RefSeq(9) 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 Presenilin/signal peptide peptidase
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:220391 Maraver A, et al., NOTCH pathway inactivation promotes bladder cancer progression. J Clin Invest. 2015 Feb;125(2):824-30
All references(146)
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
08/25/2015
MGI 6.0
The Jackson Laboratory