======= PSEN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PSEN2
  * **<color #00a2e8>Official Name</color>**: presenilin 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5664|5664]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P49810|P49810]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PSEN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PSEN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600759|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. {ECO:0000269|PubMed:10497236, ECO:0000269|PubMed:10652302}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Presenilin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of calcium import into the mitochondrion|
|mitochondrion-endoplasmic reticulum membrane tethering|
|Notch receptor processing, ligand-dependent|
|aspartic endopeptidase activity, intramembrane cleaving|
|Notch receptor processing|
|amyloid precursor protein catabolic process|
|amyloid precursor protein metabolic process|
|amyloid-beta metabolic process|
|membrane protein intracellular domain proteolysis|
|membrane protein ectodomain proteolysis|
|membrane protein proteolysis|
|regulation of calcium ion import|
|nuclear inner membrane|
|integral component of presynaptic membrane|
|endopeptidase activity|
|kinetochore|
|ephrin receptor signaling pathway|
|synaptic vesicle|
|Notch signaling pathway|
|Z disc|
|regulation of calcium ion transmembrane transport|
|protein processing|
|organelle localization by membrane tethering|
|membrane docking|
|protein maturation|
|regulation of calcium ion transport|
|calcium ion transport|
|early endosome|
|divalent metal ion transport|
|divalent inorganic cation transport|
|apical plasma membrane|
|regulation of cation transmembrane transport|
|response to hypoxia|
|response to decreased oxygen levels|
|neuronal cell body|
|response to oxygen levels|
|regulation of metal ion transport|
|regulation of ion transmembrane transport|
|centrosome|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|peptide metabolic process|
|regulation of transmembrane transport|
|organelle localization|
|protein-containing complex|
|Golgi membrane|
|metal ion transport|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|positive regulation of cell death|
|perinuclear region of cytoplasm|
|regulation of ion transport|
|enzyme linked receptor protein signaling pathway|
|cellular amide metabolic process|
|cation transport|
|endoplasmic reticulum membrane|
|Golgi apparatus|
|endoplasmic reticulum|
|response to abiotic stimulus|
|proteolysis|
|ion transport|
|integral component of plasma membrane|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of cell death|
|intracellular signal transduction|
|positive regulation of molecular function|
|regulation of transport|
|membrane|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp417|Tubastatin-A 2.5μM R07 exp417]]|-1.73|
|[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|2.09|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4251
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.2 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PSEN2 Expression in NALM6 Cells: -0.2'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>