InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PSEN2

Summary

InnateDB Protein

IDBP-107055.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PSEN2

Protein Name

presenilin 2 (Alzheimer disease 4)

Synonyms

AD3L; AD4; CMD1V; PS2; STM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000355747

InnateDB Gene

IDBG-107053 (PSEN2)

Protein Structure

UniProt Annotation

Function

Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. {ECO:0000269PubMed:10497236, ECO:0000269PubMed:10652302}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:8574969}; Multi-pass membrane protein {ECO:0000269PubMed:8574969}. Golgi apparatus membrane {ECO:0000269PubMed:8574969}; Multi-pass membrane protein {ECO:0000269PubMed:8574969}.

Disease Associations

Alzheimer disease 4 (AD4) [MIM:606889]: A familial early- onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269PubMed:10631141, ECO:0000269PubMed:10732806, ECO:0000269PubMed:22503161, ECO:0000269PubMed:7638622, ECO:0000269PubMed:7651536, ECO:0000269PubMed:9384602}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1V (CMD1V) [MIM:613697]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:17186461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. {ECO:0000269PubMed:8574969}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 77 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	77 [view]
Protein-Protein	73 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004175	endopeptidase activity
GO:0004190	aspartic-type endopeptidase activity
GO:0005515	protein binding

Biological Process

GO:0001666	response to hypoxia
GO:0001708	cell fate specification
GO:0001756	somitogenesis
GO:0001933	negative regulation of protein phosphorylation
GO:0001942	hair follicle development
GO:0002244	hematopoietic progenitor cell differentiation
GO:0002286	T cell activation involved in immune response
GO:0002573	myeloid leukocyte differentiation
GO:0006508	proteolysis
GO:0006509	membrane protein ectodomain proteolysis
GO:0006816	calcium ion transport
GO:0007176	regulation of epidermal growth factor-activated receptor activity
GO:0007219	Notch signaling pathway
GO:0007220	Notch receptor processing
GO:0007611	learning or memory
GO:0007613	memory
GO:0015031	protein transport
GO:0016485	protein processing
GO:0021904	dorsal/ventral neural tube patterning
GO:0030326	embryonic limb morphogenesis
GO:0030900	forebrain development
GO:0031293	membrane protein intracellular domain proteolysis
GO:0031333	negative regulation of protein complex assembly
GO:0032091	negative regulation of protein binding
GO:0032469	endoplasmic reticulum calcium ion homeostasis
GO:0035556	intracellular signal transduction
GO:0040011	locomotion
GO:0042640	anagen
GO:0042987	amyloid precursor protein catabolic process
GO:0043065	positive regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043085	positive regulation of catalytic activity
GO:0043393	regulation of protein binding
GO:0044267	cellular protein metabolic process
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048167	regulation of synaptic plasticity
GO:0048286	lung alveolus development
GO:0048538	thymus development
GO:0048854	brain morphogenesis
GO:0050435	beta-amyloid metabolic process
GO:0050820	positive regulation of coagulation
GO:0050852	T cell receptor signaling pathway
GO:0051604	protein maturation
GO:0060048	cardiac muscle contraction
GO:0097190	apoptotic signaling pathway
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001234	negative regulation of apoptotic signaling pathway

Cellular Component

GO:0000139	Golgi membrane
GO:0000776	kinetochore
GO:0005637	nuclear inner membrane
GO:0005743	mitochondrial inner membrane
GO:0005765	lysosomal membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005813	centrosome
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005938	cell cortex
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030018	Z disc
GO:0030424	axon
GO:0030426	growth cone
GO:0031594	neuromuscular junction
GO:0035253	ciliary rootlet
GO:0036064	ciliary basal body
GO:0043025	neuronal cell body
GO:0043198	dendritic shaft
GO:0043234	protein complex
GO:0045121	membrane raft
GO:0048471	perinuclear region of cytoplasm