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Sequence in raw or FASTA format:


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

RefSeq Accession Definition Services Price Order
NM_000447 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. ORF Sequence $390.63
Peptide Services
Antibody Services
Protein Services
NM_012486 Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA. ORF Sequence $389.76
Peptide Services
Antibody Services
Protein 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)



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].

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 Full Length $667.58
ORF Sequence $390.63
NM_012486, 156105680 NP_036618, 156105681 presenilin-2 isoform 2 Full Length $666.71
ORF Sequence $389.76
hsa04330Notch signaling pathway
hsa05010Alzheimer's disease
hsa04722Neurotrophin signaling pathway
WP61Delta-Notch Signaling Pathway
WP268Notch Signaling Pathway
WP2059Alzheimers Disease
Pathway Interaction Database
lkb1_pathwayLKB1 signaling events
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


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