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Psen2 Gene Detail
Summary
  • Symbol
    Psen2
  • Name
    presenilin 2
  • Synonyms
    Ad4h, ALG-3, PS-2, PS2
  • Feature Type
    protein coding gene
  • IDs
    MGI:109284
    NCBI Gene: 19165
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:180054569-180091003 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 84.19 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1074 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109284
 protein coding gene Chr1:180054569-180091030 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016867
 protein coding gene Chr1:186642783-186679192 (-)
A/J MGP_AJ_G0016846
 protein coding gene Chr1:179104168-179137647 (-)
AKR/J MGP_AKRJ_G0016812
 protein coding gene Chr1:184429445-184464364 (-)
BALB/cJ MGP_BALBcJ_G0016804
 protein coding gene Chr1:179727793-179761509 (-)
C3H/HeJ MGP_C3HHeJ_G0016629
 protein coding gene Chr1:185190341-185226831 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017267
 protein coding gene Chr1:192666604-192703332 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014975
 protein coding gene Chr1:170081014-170116166 (-)
CAST/EiJ MGP_CASTEiJ_G0016210
 protein coding gene Chr1:184514167-184555111 (-)
CBA/J MGP_CBAJ_G0016603
 protein coding gene Chr1:199820169-199862606 (-)
DBA/2J MGP_DBA2J_G0016709
 protein coding gene Chr1:177942080-177978275 (-)
FVB/NJ MGP_FVBNJ_G0016705
 protein coding gene Chr1:176034123-176071369 (-)
LP/J MGP_LPJ_G0016783
 protein coding gene Chr1:187905589-187940999 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016736
 protein coding gene Chr1:207027551-207062783 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017304
 protein coding gene Chr1:184201690-184235957 (-)
PWK/PhJ MGP_PWKPhJ_G0015998
 protein coding gene Chr1:177025825-177064988 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015774
 protein coding gene Chr1:183126543-183163514 (-)
WSB/EiJ MGP_WSBEiJ_G0016273
 protein coding gene Chr1:184400620-184434909 (-)



Homology
more
  • Human Ortholog
    PSEN2, presenilin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSEN2, presenilin 2
  • Synonyms
    AD3L, AD4, CMD1V, PS2, STM2
  • Links
    NCBI Gene ID: 5664
    neXtProt AC: NX_P49810
    UniProt: P49810

  • Chr Location
    1q42.13; chr1:226870184-226927726 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PSEN2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 4 alleles in 4 genetic backgrounds
    87 phenotypes from multigenic genotypes
    2 images
    110 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    123
  • GO References
    42
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    787
  • Tissues
    50
  • cDNA Data
    58
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000010609 Ensembl Gene Model | MGI Sequence Detail 36435 C57BL/6J ±  kb
    transcript ENSMUST00000111106 Ensembl | MGI Sequence Detail 2020 Not Applicable  
    polypeptide ENSMUSP00000106735 Ensembl | MGI Sequence Detail 448 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 62
      cDNA 60
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-38329, MGI:2138190
    References
    more
    • Summaries
      All 210
      Developmental Gene Expression 19
      Diseases 3
      Gene Ontology 42
      Phenotypes 110
    • Earliest
      J:42424 Pericak-Vance MA, et al., Genetic susceptibility to Alzheimer disease. Trends Genet. 1995 Dec;11(12):504-8
    • Latest
      J:357877 Erkert L, et al., Alzheimer's disease-related presenilins are key to intestinal epithelial cell function and gut immune homoeostasis. Gut. 2024 Sep 9;73(10):1618-1631
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory