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

Summary
mRNA and Protein
Pathway
Homologues
Gene Ontology
Links to Other Databases

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	Chromosome:1 Map Location: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].
Disorder	MIM: 600759 Alzheimer disease-4, 606889 (3); Cardiomyopathy, dilated, 1V, 613697

mRNA	NM_000447, 156105678
Protein	NP_000438, 156105679
Product	presenilin-2 isoform 1
RefSeq Status	REVIEWED
mRNA	NM_012486, 156105680
Protein	NP_036618, 156105681
Product	presenilin-2 isoform 2
RefSeq Status	REVIEWED

KEGG

hsa04330	Notch signaling pathway
hsa05010	Alzheimer's disease
hsa04722	Neurotrophin signaling pathway

WikiPathways

WP61	Delta-Notch Signaling Pathway

Pathway Interaction Database

lkb1_pathway

LKB1 signaling events

Reactome

REACT_299	Signaling by Notch
REACT_13443	Regulated proteolysis of p75NTR
REACT_13776	p75 NTR receptor-mediated signalling
REACT_11061	Signalling by NGF
REACT_691	A third proteolytic cleavage releases NICD
REACT_13720	Cell death signalling via NRAGE, NRIF and NADE
REACT_13643	NRIF signals cell death from the nucleus

Homo sapiens (human)	PSEN2	NP_000438.2
Pan troglodytes (chimpanzee)	PSEN2	XP_514247.2
Canis lupus familiaris (dog)	PSEN2	XP_547503.2
Bos taurus (cattle)	PSEN2	NP_776865.2
Mus musculus (house mouse)	Psen2	NP_035313.1
Rattus norvegicus (Norway rat)	Psen2	NP_112349.1
Gallus gallus (chicken)	PSEN2	NP_989633.1
Danio rerio (zebrafish)	psen2	NP_571589.2

Process

ID	Name	Evidence
GO:0001666	response to hypoxia	IEA
GO:0001708	cell fate specification	IEA
GO:0001756	somitogenesis	IEA
GO:0001933	negative regulation of protein phosphorylation	IEA
GO:0001942	hair follicle development	IEA
GO:0002244	hemopoietic progenitor cell differentiation	IEA
GO:0002286	T cell activation involved in immune response	IEA
GO:0002573	myeloid leukocyte differentiation	IEA
GO:0006509	membrane protein ectodomain proteolysis	IDA
GO:0006816	calcium ion transport	ISS
GO:0006915	apoptosis	EXP
GO:0006916	anti-apoptosis	ISS
GO:0007176	regulation of epidermal growth factor receptor activity	IEA
GO:0007219	Notch signaling pathway	TAS
GO:0007220	Notch receptor processing	ISS
GO:0007220	Notch receptor processing	TAS
GO:0007613	memory	IEA
GO:0008219	cell death	IEA
GO:0008624	induction of apoptosis by extracellular signals	EXP
GO:0009790	embryo development	IEA
GO:0015031	protein transport	IEA
GO:0016485	protein processing	IDA
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0030326	embryonic limb morphogenesis	IEA
GO:0030900	forebrain development	IEA
GO:0031293	membrane protein intracellular domain proteolysis	EXP
GO:0035556	intracellular signal transduction	IEA
GO:0040011	locomotion	IEA
GO:0042640	anagen	IEA
GO:0042987	amyloid precursor protein catabolic process	ISS
GO:0042987	amyloid precursor protein catabolic process	TAS
GO:0043065	positive regulation of apoptosis	IEA
GO:0043085	positive regulation of catalytic activity	IDA
GO:0048011	nerve growth factor receptor signaling pathway	TAS
GO:0048167	regulation of synaptic plasticity	IEA
GO:0048286	lung alveolus development	IEA
GO:0048538	thymus development	IEA
GO:0048854	brain morphogenesis	IEA
GO:0050435	beta-amyloid metabolic process	ISS
GO:0050820	positive regulation of coagulation	IEA
GO:0050852	T cell receptor signaling pathway	IEA
GO:0051605	protein maturation by peptide bond cleavage	IEA
GO:0060048	cardiac muscle contraction	IEA

Component

ID	Name	Evidence
GO:0000139	Golgi membrane	IEA
GO:0000776	kinetochore	IDA
GO:0005624	membrane fraction	IEA
GO:0005637	nuclear inner membrane	IDA
GO:0005743	mitochondrial inner membrane	ISS
GO:0005765	lysosomal membrane	ISS
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0005794	Golgi apparatus	IDA
GO:0005813	centrosome	IDA
GO:0005829	cytosol	IEA
GO:0005886	plasma membrane	EXP
GO:0005886	plasma membrane	TAS
GO:0005887	integral to plasma membrane	IDA
GO:0005938	cell cortex	ISS
GO:0009986	cell surface	ISS
GO:0016324	apical plasma membrane	ISS
GO:0030018	Z disc	ISS
GO:0030424	axon	ISS
GO:0030426	growth cone	ISS
GO:0031594	neuromuscular junction	ISS
GO:0035253	ciliary rootlet	ISS
GO:0043025	neuronal cell body	ISS
GO:0043198	dendritic shaft	ISS
GO:0043234	protein complex	IDA
GO:0045121	membrane raft	ISS
GO:0048471	perinuclear region of cytoplasm	ISS

Function

ID	Name	Evidence
GO:0004175	endopeptidase activity	ISS
GO:0004190	aspartic-type endopeptidase activity	IEA
GO:0005515	protein binding	IPI
GO:0008233	peptidase activity	IEA

GeneCards	PSEN2
UniProt	A8K8D4, P49810
MIM	600759
Ensembl	ENSG00000143801
HGNC	9509
HPRD	02860

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000447	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	Full Length	$667.58
NM_000447		ORF Sequence	$390.63
NM_012486	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 2, mRNA.	Full Length	$666.71
NM_012486		ORF Sequence	$389.76