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PSEN2 presenilin 2 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu24919 NM_012486 Homo sapiens presenilin 2 (PSEN2), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu24950 NM_000447 Homo sapiens presenilin 2 (PSEN2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu24950 XM_005273199 PREDICTED: Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu24919C NM_012486 Homo sapiens presenilin 2 (PSEN2), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu24950C NM_000447 Homo sapiens presenilin 2 (PSEN2), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu24950C XM_005273199 PREDICTED: Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00

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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?

Interactant

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