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Psen2 presenilin 2 [ Mus musculus (house mouse) ]

Gene ID: 19165, updated on 3-Jun-2018
Official Symbol
Psen2provided by MGI
Official Full Name
presenilin 2provided by MGI
Primary source
MGI:MGI:109284
See related
Ensembl:ENSMUSG00000010609 Vega:OTTMUSG00000021488
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PS2; Ad4h; Alg3; PS-2; STM2; ALG-3; Psnl2
Summary
This gene encodes a member of the presenilin family. Presenilins are catalytic components of the multi-subunit gamma-secretase complex, which mediates critical cellular processes through cleavage of type I transmembrane proteins including Notch receptors and the amyloid precursor protein. The encoded protein contains eight transmembrane domains and is localized to the endoplasmic reticulum, where it may play a role in calcium homeostasis. Following assembly of the gamma-secretase complex, the encoded protein is cleaved into N- and C-terminal fragments and the activated complex is released from the endoplasmic reticulum. Inactivation of this gene results in impaired synaptic function in a mouse model for Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2011]
Expression
Broad expression in liver adult (RPKM 102.7), ovary adult (RPKM 40.1) and 22 other tissues See more
Orthologs
See Psen2 in Genome Data Viewer
Location:
1 H4; 1 84.19 cM
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (180227004..180263478, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (182157135..182186431, complement)

Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108167750 Neighboring gene predicted gene, 37336 Neighboring gene predicted gene, 31728 Neighboring gene predicted gene, 39713 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene inositol 1,4,5-trisphosphate 3-kinase B

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
aspartic endopeptidase activity, intramembrane cleaving IEA
Inferred from Electronic Annotation
more info
 
aspartic-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
T cell activation involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
T cell receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
amyloid precursor protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transport IPI
Inferred from Physical Interaction
more info
PubMed 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate specification IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular protein metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
dorsal/ventral neural tube patterning IGI
Inferred from Genetic Interaction
more info
PubMed 
embryonic limb morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
forebrain development IGI
Inferred from Genetic Interaction
more info
PubMed 
hair follicle development IGI
Inferred from Genetic Interaction
more info
PubMed 
hematopoietic progenitor cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
locomotion IGI
Inferred from Genetic Interaction
more info
PubMed 
lung alveolus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane protein ectodomain proteolysis ISO
Inferred from Sequence Orthology
more info
 
memory IGI
Inferred from Genetic Interaction
more info
PubMed 
myeloid leukocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of epidermal growth factor-activated receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron cellular homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein processing IGI
Inferred from Genetic Interaction
more info
PubMed 
protein processing ISO
Inferred from Sequence Orthology
more info
 
protein transport IGI
Inferred from Genetic Interaction
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of epidermal growth factor-activated receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of protein binding IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of synaptic plasticity IGI
Inferred from Genetic Interaction
more info
PubMed 
skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
somitogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
thymus development IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome ISO
Inferred from Sequence Orthology
more info
 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary rootlet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
kinetochore ISO
Inferred from Sequence Orthology
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inner membrane ISO
Inferred from Sequence Orthology
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
presenilin-2
NP_001122077.1
NP_035313.2
XP_006496775.1
XP_011237078.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001128605.1NP_001122077.1  presenilin-2

    See identical proteins and their annotated locations for NP_001122077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI118332, AK148111
    Consensus CDS
    CCDS15567.1
    UniProtKB/Swiss-Prot
    Q61144
    UniProtKB/TrEMBL
    Q3U4P5
    Related
    ENSMUSP00000106737.3, OTTMUSP00000023891, ENSMUST00000111108.9, OTTMUST00000050924
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin; Presenilin
  2. NM_011183.3NP_035313.2  presenilin-2

    See identical proteins and their annotated locations for NP_035313.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC132436, AI118332, BM935552
    Consensus CDS
    CCDS15567.1
    UniProtKB/Swiss-Prot
    Q61144
    UniProtKB/TrEMBL
    Q3U4P5
    Related
    ENSMUSP00000010753.7, OTTMUSP00000023892, ENSMUST00000010753.13, OTTMUST00000050925
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin; Presenilin

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

    Range
    180227004..180263478 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238776.2XP_011237078.1  presenilin-2 isoform X1

    See identical proteins and their annotated locations for XP_011237078.1

    UniProtKB/Swiss-Prot
    Q61144
    UniProtKB/TrEMBL
    Q3U4P5
    Conserved Domains (1) summary
    pfam01080
    Location:82438
    Presenilin; Presenilin
  2. XM_006496712.2XP_006496775.1  presenilin-2 isoform X2

    See identical proteins and their annotated locations for XP_006496775.1

    UniProtKB/Swiss-Prot
    Q61144
    UniProtKB/TrEMBL
    A0A0R4J1F2
    Related
    ENSMUSP00000106733.1, OTTMUSP00000023894, ENSMUST00000111104.1, OTTMUST00000050927
    Conserved Domains (1) summary
    pfam01080
    Location:82437
    Presenilin; Presenilin

RNA

  1. XR_373599.3 RNA Sequence

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