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 (Alzheimer disease 4)
NCBI Gene ID		5664
neXtProt AC		NX_P49810
Human Synonyms		AD3L, AD4, CMD1V, PS2, STM2
Human Chr (Location)		1q31-q42; chr1:227058273-227083804 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PSEN2

Alleles and phenotypes

All alleles(8) : Targeted(4) Gene trapped(4)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (91 annotations)

Process	amyloid precursor protein catabolic process, anagen, ...
Component	apical plasma membrane, axon, ...
Function	aspartic-type endopeptidase activity, 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 Type	Results
RNA in situ	71
RT-PCR	1

cDNA source data(57)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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 Knockout Project Status	Psen2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021488	VEGA Gene Model | MGI Sequence Detail	36435	C57BL/6J
transcript	OTTMUST00000050924	VEGA | MGI Sequence Detail	1997	Not Applicable
polypeptide	OTTMUSP00000023891	VEGA | MGI Sequence Detail	448	Not Applicable

All sequences(73) RefSeq(4) UniProt(4)

Polymorphisms

SNPs(77 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193889 Kaufmann MR, et al., Dysregulation of hypoxia-inducible factor by presenilin/gamma-secretase loss-of-function mutations. J Neurosci. 2013 Jan 30;33(5):1915-26
All references(136)

Other accession IDs

MGD-MRK-38329, MGI:2138190