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Psenen Gene Detail
Summary
  • Symbol
    Psenen
  • Name
    presenilin enhancer gamma secretase subunit
  • Synonyms
    1700023M09Rik, Pen2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913590
    NCBI Gene: 66340
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:30261290-30263052 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 18.60 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    138 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913590
 protein coding gene Chr7:30261288-30263052 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032028
 protein coding gene Chr7:29567788-29571080 (-)
A/J MGP_AJ_G0032005
 protein coding gene Chr7:28766738-28768708 (-)
AKR/J MGP_AKRJ_G0031938
 protein coding gene Chr7:29498527-29499842 (-)
BALB/cJ MGP_BALBcJ_G0032012
 protein coding gene Chr7:28954441-28956142 (-)
C3H/HeJ MGP_C3HHeJ_G0031731
 protein coding gene Chr7:29955717-29958801 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032478
 protein coding gene Chr7:30518363-30520480 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029528
 protein coding gene Chr7:29794420-29795705 (-)
CAST/EiJ MGP_CASTEiJ_G0031065
 protein coding gene Chr7:23210228-23211549 (-)
CBA/J MGP_CBAJ_G0031697
 protein coding gene Chr7:31981862-31986478 (-)
DBA/2J MGP_DBA2J_G0031849
 protein coding gene Chr7:28495721-28497121 (-)
FVB/NJ MGP_FVBNJ_G0031806
 protein coding gene Chr7:28626677-28627992 (-)
LP/J MGP_LPJ_G0031930
 protein coding gene Chr7:29876851-29878161 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031842
 protein coding gene Chr7:31219830-31222278 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032506
 protein coding gene Chr7:29009424-29010729 (-)
PWK/PhJ no annotation
SPRET/EiJ MGP_SPRETEiJ_G0030624
 protein coding gene Chr7:20017400-20018708 (-)
WSB/EiJ MGP_WSBEiJ_G0031175
 protein coding gene Chr7:29395747-29397860 (-)



Homology
more
  • Human Ortholog
    PSENEN, presenilin enhancer, gamma-secretase subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSENEN, presenilin enhancer, gamma-secretase subunit
  • Synonyms
    ACNINV2, MDS033, MSTP064, PEN-2, PEN2
  • Links
    NCBI Gene ID: 55851
    neXtProt AC: NX_Q9NZ42
    UniProt: Q9NZ42

  • Chr Location
    19q13.12; chr19:35745600-35747519 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PSENEN associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    14 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.
Homozygous mutation of this gene results in lethality before weaning.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    17
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
    737
  • Tissues
    20
  • cDNA Data
    112
  • Literature Summary
    9
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 66340 NCBI Gene Model | MGI Sequence Detail 1763 C57BL/6J ±  kb
transcript NM_025498 RefSeq | MGI Sequence Detail 671 C57BL/6  
polypeptide Q9CQR7 UniProt | EBI | MGI Sequence Detail 101 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000013346 gamma-secretase subunit PEN-2
    (term hierarchy)
  • InterPro Domains
    IPR019379 Gamma-secretase aspartyl protease complex, presenilin enhancer-2 subunit
Molecular
Reagents
less
  • All nucleic 112
    cDNA 112

    Microarray probesets 4
References
more
  • Summaries
    All 58
    Developmental Gene Expression 9
    Gene Ontology 17
    Phenotypes 14
  • Earliest
    J:54336 De Strooper B, et al., A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain [see comments]. Nature. 1999 Apr 8;398(6727):518-22
  • Latest
    J:344349 Serneels L, et al., Functional and topological analysis of PSENEN, the fourth subunit of the gamma-secretase complex. J Biol Chem. 2023 Dec 10;300(1):105533
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