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PSEN2 presenilin 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000447 Homo sapiens presenilin 2 (PSEN2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_012486 Homo sapiens presenilin 2 (PSEN2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005273199 PREDICTED: Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol PSEN2
Entrez Gene ID 5664
Full Name presenilin 2
Synonyms AD3L, AD4, CMD1V, PS2, STM2
General protein information
Preferred Names
presenilin-2
Names
presenilin-2
AD5
E5-1
PS-2
AD3LP
STM-2
NP_000438.2
NP_036618.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q42.13

Summary 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].
Disorder

MIM: 600759

Alzheimer disease-4, 606889 (3); Cardiomyopathy, dilated, 1V, 613697

mRNA Protein Product Sequence Price Select
NM_000447, 156105678 NP_000438, 156105679 presenilin-2 isoform 1 ORF Sequence $550.00
NM_012486, 156105680 NP_036618, 156105681 presenilin-2 isoform 2 ORF Sequence $550.00
XM_005273199, 530366341 XP_005273256, 530366342 presenilin-2 isoform X2 ORF Sequence $550.00
KEGG
hsa04330Notch signaling pathway
hsa05010Alzheimer's disease
hsa04722Neurotrophin signaling pathway
WikiPathways
WP61Delta-Notch Signaling Pathway
WP268Notch Signaling Pathway
WP2059Alzheimers Disease
Pathway Interaction Database
lkb1_pathwayLKB1 signaling events
Reactome
REACT_13720Cell death signalling via NRAGE, NRIF and NADE
REACT_13443Regulated proteolysis of p75NTR
REACT_11061Signalling by NGF
REACT_13776p75 NTR receptor-mediated signalling
REACT_299Signaling by NOTCH
REACT_13643NRIF signals cell death from the nucleus
REACT_111102Signal Transduction
REACT_116125Disease
REACT_115596Signaling by ERBB4
REACT_116022Nuclear signaling by ERBB4
REACT_118859Signaling by NOTCH1
REACT_118862Signaling by NOTCH3
REACT_118721Signaling by NOTCH2
REACT_118614Activated NOTCH1 Transmits Signal to the Nucleus
REACT_118636Signaling by NOTCH4
REACT_160248Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
REACT_160254Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
REACT_160099FBXW7 Mutants and NOTCH1 in Cancer
REACT_160205NOTCH2 Activation and Transmission of Signal to the Nucleus
REACT_160243Constitutive Signaling by NOTCH1 PEST Domain Mutants
REACT_160214Signaling by NOTCH1 in Cancer
REACT_160082Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
REACT_160133Signaling by NOTCH1 HD Domain Mutants in Cancer
REACT_160301Signaling by NOTCH1 PEST Domain Mutants in Cancer
Homo sapiens (human)PSEN2NP_000438.2
Pan troglodytes (chimpanzee)PSEN2XP_003949755.1
Macaca mulatta (Rhesus monkey)PSEN2XP_002801954.1
Canis lupus familiaris (dog)PSEN2XP_005622685.1
Bos taurus (cattle)PSEN2NP_776865.2
Mus musculus (house mouse)Psen2NP_001122077.1
Rattus norvegicus (Norway rat)Psen2NP_112349.2
Gallus gallus (chicken)PSEN2NP_989633.1
Danio rerio (zebrafish)psen2NP_571589.2
Drosophila melanogaster (fruit fly)PsnNP_001137988.1
Xenopus (Silurana) tropicalis (western clawed frog)psen2NP_001017181.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIEA
GO:0001708cell fate specificationIEA
GO:0001756somitogenesisIEA
GO:0001933negative regulation of protein phosphorylationIEA
GO:0002244hematopoietic progenitor cell differentiationIEA
GO:0002286T cell activation involved in immune responseIEA
GO:0002573myeloid leukocyte differentiationIEA
GO:0006509membrane protein ectodomain proteolysisIDA
GO:0006816calcium ion transportIBA
GO:0007176regulation of epidermal growth factor-activated receptor activityIEA
GO:0007219Notch signaling pathwayTAS
GO:0007220Notch receptor processingIBA
GO:0007220Notch receptor processingTAS
GO:0007613memoryIEA
GO:0015031protein transportIEA
GO:0016485protein processingIDA
GO:0021904dorsal/ventral neural tube patterningIEA
GO:0030326embryonic limb morphogenesisIEA
GO:0030900forebrain developmentIEA
GO:0031293membrane protein intracellular domain proteolysisTAS
GO:0031333negative regulation of protein complex assemblyIEA
GO:0032091negative regulation of protein bindingIEA
GO:0032469endoplasmic reticulum calcium ion homeostasisIEA
GO:0035556intracellular signal transductionIEA
GO:0040011locomotionIEA
GO:0042640anagenIEA
GO:0042987amyloid precursor protein catabolic processIBA
GO:0042987amyloid precursor protein catabolic processTAS
GO:0043065positive regulation of apoptotic processTAS
GO:0043066negative regulation of apoptotic processIBA
GO:0043085positive regulation of catalytic activityIDA
GO:0048011neurotrophin TRK receptor signaling pathwayTAS
GO:0048167regulation of synaptic plasticityIEA
GO:0048286lung alveolus developmentIEA
GO:0048538thymus developmentIEA
GO:0048854brain morphogenesisIEA
GO:0050435beta-amyloid metabolic processIBA
GO:0050820positive regulation of coagulationIEA
GO:0050852T cell receptor signaling pathwayIEA
GO:0060048cardiac muscle contractionIEA
GO:0097190apoptotic signaling pathwayTAS
GO:1902042negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsIEA
GO:1902043positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsIEA
Component
IDNameEvidence
GO:0000139Golgi membraneIEA
GO:0000776kinetochoreIDA
GO:0005637nuclear inner membraneIDA
GO:0005743mitochondrial inner membraneIBA
GO:0005765lysosomal membraneIBA
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneIEA
GO:0005794Golgi apparatusIDA
GO:0005813centrosomeIDA
GO:0005829cytosolIEA
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneIDA
GO:0005938cell cortexIBA
GO:0009986cell surfaceIBA
GO:0016020membraneIDA
GO:0016324apical plasma membraneIBA
GO:0030018Z discIBA
GO:0030424axonIBA
GO:0030426growth coneIBA
GO:0031594neuromuscular junctionIBA
GO:0035253ciliary rootletIBA
GO:0043025neuronal cell bodyIBA
GO:0043198dendritic shaftIBA
GO:0043234protein complexIDA
GO:0045121membrane raftIBA
GO:0048471perinuclear region of cytoplasmIBA
Function
IDNameEvidence
GO:0004175endopeptidase activityIBA
GO:0004190aspartic-type endopeptidase activityIEA
GO:0005515protein bindingIPI
GeneCards PSEN2
UniProt P49810
Vega OTTHUMG00000037563
MIM 600759
Ensembl ENSG00000143801
HGNC 9509
HPRD 02860

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PSEN2 gene?

The PSEN2 gene provides instructions for making a protein called presenilin 2. Presenilin 2 helps process proteins that transmit chemical signals from the cell membrane into the nucleus. Once in the nucleus, these signals turn on (activate) genes that are important for cell growth and maturation.

Presenilin 2 is best known for its role in processing amyloid precursor protein, which is found in the brain and other tissues. Research suggests that presenilin 2 works together with other enzymes to cut amyloid precursor protein into smaller segments (peptides). One of these peptides is called soluble amyloid precursor protein (sAPP), and another is called amyloid beta peptide. Recent evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of neurons in the brain both before and after birth. Other functions of sAPP and amyloid beta peptide are under investigation.

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