Protein Description

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

No tissues found.

No databases found.

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