Gene Symbol | PSEN2 |
Entrez ID | 5664 |
Uniprot ID | P49810 |
Description | presenilin 2 |
Chromosomal Location | chr1: 226,870,184-226,896,105 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001666 |
response to hypoxia |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
IEA |
BP |
GO:0006509 |
membrane protein ectodomain proteolysis |
The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). |
IDA |
BP |
GO:0006816 |
calcium ion transport |
The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IBA |
BP |
GO:0007219 |
Notch signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to the receptor Notch on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
TAS |
BP |
GO:0007220 |
Notch receptor processing |
The series of successive proteolytic cleavages of the Notch protein, which result in an active form of the receptor. |
TAS |
BP |
GO:0016485 |
protein processing |
Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
IDA |
BP |
GO:0031293 |
membrane protein intracellular domain proteolysis |
The proteolytic cleavage of a transmembrane protein leading to the release of an intracellular domain. |
TAS |
BP |
GO:0035556 |
intracellular signal transduction |
The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
IEA |
BP |
GO:0042987 |
amyloid precursor protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease. |
TAS |
BP |
GO:0043065 |
positive regulation of apoptotic process |
Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
TAS |
BP |
GO:0043066 |
negative regulation of apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
IBA |
BP |
GO:0043085 |
positive regulation of catalytic activity |
Any process that activates or increases the activity of an enzyme. |
IDA |
BP |
GO:0048013 |
ephrin receptor signaling pathway |
The series of molecular signals generated as a consequence of an ephrin receptor binding to an ephrin. |
TAS |
BP |
GO:0050435 |
beta-amyloid metabolic process |
The chemical reactions and pathways involving beta-amyloid, a glycoprotein associated with Alzheimer's disease, and its precursor, amyloid precursor protein (APP). |
IBA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IEA |
CC |
GO:0000776 |
kinetochore |
A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
IDA |
CC |
GO:0005637 |
nuclear inner membrane |
The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
IDA |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
IEA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0005813 |
centrosome |
A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
IDA |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
TAS |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
CC |
GO:0005938 |
cell cortex |
The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
IBA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016324 |
apical plasma membrane |
The region of the plasma membrane located at the apical end of the cell. |
IBA |
CC |
GO:0030018 |
Z disc |
Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
IBA |
CC |
GO:0043025 |
neuronal cell body |
The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
IBA |
CC |
GO:0043234 |
protein complex |
A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical. |
IDA |
CC |
GO:0048471 |
perinuclear region of cytoplasm |
Cytoplasm situated near, or occurring around, the nucleus. |
IBA |
MF |
GO:0004175 |
endopeptidase activity |
Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
IBA |
MF |
GO:0004190 |
aspartic-type endopeptidase activity |
Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which a water molecule bound by the side chains of aspartic residues at the active center acts as a nucleophile. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
Domain ID | Description |
---|---|
IPR001108 |
Peptidase A22A, presenilin |
IPR001493 |
Peptidase A22A, presenilin 2 |
IPR006639 |
Presenilin/signal peptide peptidase |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04330 |
Notch signaling pathway |
KEGG |
hsa04722 |
Neurotrophin signaling pathway |
KEGG |
hsa05010 |
Alzheimer's disease |
KEGG |
WP2059 |
Alzheimers Disease |
WikiPathways |
WP61 |
Notch Signaling Pathway |
WikiPathways |
WP3845 |
Canonical and Non-canonical Notch signaling |
WikiPathways |
WP268 |
Notch Signaling Pathway |
WikiPathways |
h_HivnefPathway |
HIV-I Nef: negative effector of Fas and TNF |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0002395 |
Alzheimer'S Disease |
C0004045 |
Asphyxia Neonatorum |
C0007193 |
Cardiomyopathy, Dilated |
Pubmed ID | Author | Year | Title |
---|---|---|---|
15308691 |
Jansen et al. |
2004 |
Abnormal Gene Expression Profiles in Human Ovaries from Polycystic Ovary Syndrome Patients |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
AAMP |
14 |
Q13685 |
0.63 |
ACTG1 |
71 |
P63261 |
0.63 |
CHKA |
1119 |
P35790 |
0.63 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
GCDH |
2639 |
Q92947 |
0.63 |
GFAP |
2670 |
P14136 |
0.63 |
HPS1 |
3257 |
Q92902 |
0.63 |
IFIT3 |
3437 |
O14879 |
0.63 |
MGEA5 |
10724 |
O60502 |
0.63 |
ECD |
11319 |
O95905 |
0.63 |
EID1 |
23741 |
Q9Y6B2 |
0.63 |
IFIT5 |
24138 |
Q13325 |
0.63 |
CEP55 |
55165 |
Q53EZ4 |
0.63 |
EVI5L |
115704 |
Q96CN4 |
0.63 |
SPC24 |
147841 |
Q8NBT2 |
0.63 |
APBA1 |
320 |
Q02410 |
0.72 |
APBA2 |
321 |
Q99767 |
0.72 |
CLK1 |
1195 |
P49759 |
0.72 |
APBA3 |
9546 |
O96018 |
0.72 |
FLNA |
2316 |
P21333 |
0.73 |
PSEN2 |
5664 |
P49810 |
0.73 |
DYNC1H1 |
1778 |
Q14204 |
0.76 |
PDCD4 |
27250 |
Q53EL6 |
0.76 |
ECSIT |
51295 |
Q9BQ95 |
0.77 |
BCL2L1 |
598 |
Q07817 |
0.88 |
CAPN1 |
823 |
P07384 |
0.88 |
SRI |
6717 |
P30626 |
0.88 |
CSNK1A1 |
1452 |
P48729 |
0.52 |
CTNNB1 |
1499 |
P35222 |
0.52 |
CTNND2 |
1501 |
Q9UQB3 |
0.52 |
NOTCH1 |
4851 |
P46531 |
0.52 |
NOTCH2 |
4853 |
Q04721 |
0.52 |
NOTCH3 |
4854 |
Q9UM47 |
0.52 |
NOTCH4 |
4855 |
Q99466 |
0.52 |
ART3 |
419 |
Q13508 |
0.63 |
CASP3 |
836 |
P42574 |
0.63 |
CASP7 |
840 |
P55210 |
0.63 |
CASP8 |
841 |
Q14790 |
0.63 |
DNAJB1 |
3337 |
P25685 |
0.63 |
KIF22 |
3835 |
Q14807 |
0.63 |
NOS3 |
4846 |
P29474 |
0.63 |
PPP5C |
5536 |
P53041 |
0.63 |
RHEB |
6009 |
Q15382 |
0.63 |
LIPF |
8513 |
P07098 |
0.63 |
DLK1 |
8788 |
P80370 |
0.63 |
TSPAN5 |
10098 |
P62079 |
0.63 |
MAST1 |
22983 |
Q9Y2H9 |
0.63 |
FAF2 |
23197 |
Q96CS3 |
0.63 |
ERGIC3 |
51614 |
Q9Y282 |
0.63 |
EXOC6 |
54536 |
Q8TAG9 |
0.63 |
FBXL12 |
54850 |
Q9NXK8 |
0.63 |
RNF32 |
140545 |
Q9H0A6 |
0.63 |
DOCK3 |
1795 |
Q8IZD9 |
0.65 |
RAB11A |
8766 |
P62491 |
0.65 |
CASP1 |
834 |
P29466 |
0.66 |
CASP6 |
839 |
P55212 |
0.66 |
CSNK1D |
1453 |
P48730 |
0.66 |
CSNK2A1 |
1457 |
P68400 |
0.66 |
CFLAR |
8837 |
O15519 |
0.66 |
TRAF6 |
7189 |
Q9Y4K3 |
0.73 |
KCNIP4 |
80333 |
Q6PIL6 |
0.77 |
FLNB |
2317 |
O75369 |
0.79 |
CIB1 |
10519 |
Q99828 |
0.79 |
APH1B |
83464 |
Q8WW43 |
0.81 |
APP |
351 |
P05067 |
0.84 |
ICAM5 |
7087 |
Q9UMF0 |
0.85 |
PSENEN |
55851 |
Q9NZ42 |
0.85 |
PSEN1 |
5663 |
P49768 |
0.87 |
FHL2 |
2274 |
Q14192 |
0.88 |
NCSTN |
23385 |
Q92542 |
0.88 |
KCNIP3 |
30818 |
Q9Y2W7 |
0.88 |
APH1A |
51107 |
Q96BI3 |
0.88 |
UBQLN1 |
29979 |
Q9UMX0 |
0.89 |