PSEN2 - Presenilin-2 - human protein (Function)
 
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PSEN2 »  Presenilin-2   [ EC 3.4.23.- ]  (PS-2)
 
Protein also known as:  AD3LP. Cleaved into:  Presenilin-2 CTF subunit; Presenilin-2 NTF subunit.
Gene name:  PSEN2
Family name: Peptidase A22A
Entry whose protein(s) existence is based on evidence at protein level
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1 125 3
GENE REF ISO

Function

 show evidences
Overview 
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 (beta-amyloid 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.  
2
  • CuratedUniProtKB
According to TCDB this is a transporter from family:
the presenilin er ca(2+) leak channel (presenilin) family  1.A.54.1.2  
GO molecular function 
Aspartic-type endopeptidase activitydefinition[GO:0004190] silver  
  • IEAInterPro 2 GO
Endopeptidase activitydefinition[GO:0004175] silver  
  • IBARefGenome
Protein bindingdefinition[GO:0005515]  
4
  • IPIIntAct
  • IPIUniProtKB
  • IPIBHF-UCL
  • IPIHGNC
GO biological process 
Amyloid precursor protein catabolic processdefinition[GO:0042987]  
1
  • TASHGNC
  • IBARefGenome
Anagendefinition[GO:0042640] silver  
  • IEAOrtholog Compara
Beta-amyloid metabolic processdefinition[GO:0050435] silver  
  • IBARefGenome
Brain morphogenesisdefinition[GO:0048854] silver  
  • IEAOrtholog Compara
Calcium ion transportdefinition[GO:0006816] silver  
  • IBARefGenome
Cardiac muscle contractiondefinition[GO:0060048] silver  
  • IEAOrtholog Compara
Cell fate specificationdefinition[GO:0001708] silver  
  • IEAOrtholog Compara
Dorsal/ventral neural tube patterningdefinition[GO:0021904] silver  
  • IEAOrtholog Compara
Embryonic limb morphogenesisdefinition[GO:0030326] silver  
  • IEAOrtholog Compara
Endoplasmic reticulum calcium ion homeostasisdefinition[GO:0032469] silver  
  • IEAOrtholog Compara
Forebrain developmentdefinition[GO:0030900] silver  
  • IEAOrtholog Compara
Hematopoietic progenitor cell differentiationdefinition[GO:0002244] silver  
  • IEAOrtholog Compara
Intracellular signal transductiondefinition[GO:0035556] silver  
  • IEAInterPro 2 GO
Locomotiondefinition[GO:0040011] silver  
  • IEAOrtholog Compara
Lung alveolus developmentdefinition[GO:0048286] silver  
  • IEAOrtholog Compara
Membrane protein ectodomain proteolysisdefinition[GO:0006509]  
1
  • IDAHGNC
Memorydefinition[GO:0007613] silver  
  • IEAOrtholog Compara
Myeloid leukocyte differentiationdefinition[GO:0002573] silver  
  • IEAOrtholog Compara
Negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsdefinition[GO:1902042] silver  
  • IEAOrtholog Compara
Negative regulation of protein bindingdefinition[GO:0032091] silver  
  • IEAOrtholog Compara
Negative regulation of protein complex assemblydefinition[GO:0031333] silver  
  • IEAOrtholog Compara
Negative regulation of protein phosphorylationdefinition[GO:0001933] silver  
  • IEAOrtholog Compara
Notch receptor processingdefinition[GO:0007220]  
1
  • TASHGNC
  • IBARefGenome
Positive regulation of catalytic activitydefinition[GO:0043085]  
1
  • IDAHGNC
Positive regulation of coagulationdefinition[GO:0050820] silver  
  • IEAOrtholog Compara
Positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsdefinition[GO:1902043] silver  
  • IEAOrtholog Compara
Protein processingdefinition[GO:0016485]  
1
  • IDAHGNC
Protein transportdefinition[GO:0015031] silver  
  • IEAOrtholog Compara
Regulation of epidermal growth factor-activated receptor activitydefinition[GO:0007176] silver  
  • IEAOrtholog Compara
Regulation of synaptic plasticitydefinition[GO:0048167] silver  
  • IEAOrtholog Compara
Response to hypoxiadefinition[GO:0001666] silver  
  • IEAOrtholog Compara
Somitogenesisdefinition[GO:0001756] silver  
  • IEAOrtholog Compara
T cell activation involved in immune responsedefinition[GO:0002286] silver  
  • IEAOrtholog Compara
T cell receptor signaling pathwaydefinition[GO:0050852] silver  
  • IEAOrtholog Compara
Thymus developmentdefinition[GO:0048538] silver  
  • IEAOrtholog Compara
Enzymatic activity 
 
More information is available from:
Pathways 
According to KEGG, this protein belongs to the following pathways:
Alzheimer's disease  hsa05010+5664  
Neurotrophin signaling pathway  hsa04722+5664  
Notch signaling pathway  hsa04330+5664  
According to Reactome, this protein belongs to the following pathways:
A third proteolytic cleavage releases NICD  REACT_691  
Disease  REACT_116125  
Signal Transduction  REACT_111102  
 

Keywords

Biological process 
Notch signaling pathway  definition   [KW-0914]
Molecular function 
Hydrolase  definition   [KW-0378]
Protease  definition   [KW-0645]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: PSEN2
GenomeRNAi: 5664
PRO: PR:P49810