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PSEN2 presenilin 2 (Alzheimer disease 4) [Homo sapiens (human)]


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

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Related Services

Gene Symbol PSEN2
Entrez Gene ID 5664
Full Name presenilin 2 (Alzheimer disease 4)
Synonyms AD3L, AD4, CMD1V, PS2, STM2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q31-q42

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
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_118636Signaling by NOTCH4
REACT_13720Cell death signalling via NRAGE, NRIF and NADE
REACT_13643NRIF signals cell death from the nucleus
REACT_299Signaling by NOTCH
REACT_115596Signaling by ERBB4
REACT_118721Signaling by NOTCH2
REACT_118862Signaling by NOTCH3
REACT_118859Signaling by NOTCH1
REACT_13443Regulated proteolysis of p75NTR
REACT_13776p75 NTR receptor-mediated signalling
REACT_118614Activated NOTCH1 Transmits Signal to the Nucleus
REACT_111102Signal Transduction
REACT_11061Signalling by NGF
REACT_116022Nuclear signaling by ERBB4
Homo sapiens (human)PSEN2NP_036618.2
Pan troglodytes (chimpanzee)PSEN2XP_001142009.2
Macaca mulatta (Rhesus monkey)PSEN2XP_001087264.2
Canis lupus familiaris (dog)PSEN2XP_547503.3
Bos taurus (cattle)PSEN2NP_776865.2
Mus musculus (house mouse)Psen2NP_035313.2
Rattus norvegicus (Norway rat)Psen2NP_112349.2
Gallus gallus (chicken)PSEN2NP_989633.1
Danio rerio (zebrafish)psen2NP_571589.2
GeneCards PSEN2
UniProt P49810
MIM 600759
Ensembl ENSG00000143801
HGNC 9509
HPRD 02860

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

General protein information

Preferred Names
presenilin-2
Names
presenilin-2
AD5
E5-1
PS-2
AD3LP
STM-2
NP_000438.2
NP_036618.2

Interactant



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