Property Summary

NCBI Gene PubMed Count 189
Grant Count 493
R01 Count 285
Funding $75,893,939.77
PubMed Score 585.18
PubTator Score 370.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
adult high grade glioma -1.100 0.002

Synonym

Accession P49810 A8K8D4 B1AP21 Q96P32 PS-2
Symbols AD4
PS2
AD3L
STM2
CMD1V

Gene

Gene RIF (131)

PMID Text
26522186 German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
26422362 Its mutation is pathogenic to early onset familial AD associated with atypical symptom presentation.
26203236 PSEN2 mutations appeared not only in Alzheimer's Disease patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia
26166204 Its mutations of PSEN2 account for pathogenicity of early-onset familial Alzheimer's disease.
26159191 This study identified variants in PSEN2 across a range of phenotypes (Alzheimer's Disease , Alzheimer's Disease and cerebrovascular disease,frontotemporal dementia and progressive supranuclear palsy.
25998117 Mutations in PSEN2 are relatively rare cause of the autosomal-dominant cases of Early onset familial Alzheimer Disease.
25814654 Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence.
25614624 Mutation of on PS1 and PS2 AXXXAXXXG motifs strongly impacts gamma-secretase activity.
25429133 Levels of presenilin 2 are higher in the cerebral cortex of presenilin 1 knockout mice, suggesting a compensatory upregulation.
25323700 PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD
More...

AA Sequence

MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPG      1 - 70
RPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVL     71 - 140
NTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWN    141 - 210
FGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVET    211 - 280
AQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGE    281 - 350
ELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI    351 - 420
TFGLIFYFSTDNLVRPFMDTLASHQLYI                                              421 - 448
//

Text Mined References (195)

PMID Year Title
26522186 2016 Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
26422362 2015 Probable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer's disease.
26203236 2015 Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
26166204 2015 Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
26159191 2015 Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy.
25998117 2015 Genetic testing and counseling in the diagnosis and management of young-onset dementias.
25814654 2015 Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of ?-secretase activity.
25614624 2015 Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the ?-secretase complex.
25429133 2014 Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex.
25323700 2015 Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
More...