Presenilin 2

PSEN2
Identifiers
Aliases	PSEN2, AD3L, AD4, CMD1V, PS2, STM2, presenilin 2
External IDs	MGI: 109284 HomoloGene: 386 GeneCards: PSEN2
Gene location (Human) Chr. Chromosome 1 (human) Band 1q42.13 Start 226,870,184 bp End 226,896,105 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H4|1 84.19 cM Start 180,227,004 bp End 180,263,438 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • endopeptidase activity • peptidase activity • protein binding • hydrolase activity • aspartic endopeptidase activity, intramembrane cleaving • aspartic-type endopeptidase activity Cellular component • integral component of membrane • centrosome • Golgi apparatus • endoplasmic reticulum membrane • membrane • Golgi membrane • plasma membrane • integral component of plasma membrane • protein complex • neuronal cell body • nuclear inner membrane • Z disc • endoplasmic reticulum • perinuclear region of cytoplasm • kinetochore • mitochondrial inner membrane • lysosomal membrane • cell cortex • cell surface • axon • growth cone • neuromuscular junction • ciliary rootlet • dendritic shaft • membrane raft • intracellular Biological process • Notch signaling pathway • intracellular signal transduction • response to hypoxia • ephrin receptor signaling pathway • protein processing • positive regulation of catalytic activity • negative regulation of apoptotic process • amyloid-beta metabolic process • proteolysis • membrane protein ectodomain proteolysis • membrane protein intracellular domain proteolysis • positive regulation of apoptotic process • Notch receptor processing • calcium ion transport • amyloid precursor protein catabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5664	19165
Ensembl	ENSG00000143801	ENSMUSG00000010609
UniProt	P49810	Q61144
RefSeq (mRNA)	NM_000447 NM_012486	NM_001128605 NM_011183
RefSeq (protein)	NP_000438 NP_036618	NP_001122077 NP_035313
Location (UCSC)	Chr 1: 226.87 – 226.9 Mb	Chr 1: 180.23 – 180.26 Mb
PubMed search

5664

19165

ENSG00000143801

ENSMUSG00000010609

P49810

Q61144

NM_000447
NM_012486

NM_001128605
NM_011183

NP_000438
NP_036618

NP_001122077
NP_035313

Presenilin-2 is a protein that in humans is encoded by the PSEN2 gene.

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; 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 are protease enzymes. Two alternative transcripts of PSEN2 have been identified.

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Wikipedia