PSEN2 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of PSEN2 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of PSEN2 at tissue level.

III. Associated gene sets

GO_0055074Biological processcalcium ion homeostasis
GO_0007220Biological processNotch receptor processing
GO_0007219Biological processNotch signaling pathway
GO_0016485Biological processprotein processing
GO_0035556Biological processintracellular signal transduction
GO_0001666Biological processresponse to hypoxia
GO_0110097Biological processregulation of calcium import into the mitochondrion
GO_0042987Biological processamyloid precursor protein catabolic process
GO_0034205Biological processamyloid-beta formation
GO_0006509Biological processmembrane protein ectodomain proteolysis
GO_1990456Biological processmitochondrion-endoplasmic reticulum membrane tethering
GO_0070765Cellular componentgamma-secretase complex
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005769Cellular componentearly endosome
GO_0005813Cellular componentcentrosome
GO_0000776Cellular componentkinetochore
GO_0032991Cellular componentprotein-containing complex
GO_0005794Cellular componentGolgi apparatus
GO_0005637Cellular componentnuclear inner membrane
GO_0042734Cellular componentpresynaptic membrane
GO_0000139Cellular componentGolgi membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0008021Cellular componentsynaptic vesicle
GO_0042500Molecular functionaspartic endopeptidase activity, intramembrane cleaving
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene namePSEN2
Protein namePresenilin 2
Presenilin-2 (PS-2) (EC 3.4.23.-) (AD3LP) (AD5) (E5-1) (STM-2) [Cleaved into: Presenilin-2 NTF subunit; Presenilin-2 CTF subunit]
Presenilin (EC 3.4.23.-)
Presenilin-2
SynonymsPS2
PSNL2
STM2
hCG_15757
AD4
DescriptionFUNCTION: 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 (amyloid-beta 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. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis . Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria . .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .

AccessionsENST00000626989.3 [P49810-1]
ENST00000678784.1
A0A7I2V5Q3
ENST00000677880.1
ENST00000676467.1
A0A7I2V5L1
ENST00000678820.1
A0A7I2V551
P49810
A0A218KGQ4
A0A7I2V5Y0
E5RG63
ENST00000472139.2
ENST00000678776.1
ENST00000524196
ENST00000460775.5
A0A7I2V2W1
ENST00000676888.1
A0A7I2YQG9
A0A7I2V4T4
A0A7I2V3Y8
ENST00000495488.5
E5RHT1
ENST00000678835.1
ENST00000366782
A0A7I2V5S6
ENST00000524196.6 [P49810-1]
A0A7I2V4D0
ENST00000678706.1
ENST00000626989
B1AP22
A0A7I2V3R9
ENST00000678021.1
ENST00000366783.8 [P49810-1]
ENST00000677599.1
ENST00000366782.6 [P49810-1]
ENST00000676747.1
ENST00000678655.1
ENST00000677414.1 [P49810-1]
ENST00000677596.1
ENST00000422240.6 [P49810-3]
ENST00000679098.1 [P49810-1]
ENST00000676907.1
A0A7I2V355
ENST00000679088.1 [P49810-1]
ENST00000678320.1
E5RJM5
ENST00000676840.1
ENST00000676945.1
E5RFW4
ENST00000678233.1 [P49810-1]
A0A7I2V4Y6