HUMAN:PSN2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	PSEN2 (synonyms: AD4, PS2, PSNL2, STM2)
Protein Name(s)	Presenilin-2 PS-2 AD3LP AD5 E5-1 STM-2 Presenilin-2 NTF subunit Presenilin-2 CTF subunit
External Links
UniProt	P49810
EMBL	L43964 L44577 U34349 U50871 BT006984 AK292299 AL391628 CH471098 CH471098 BC006365 AF416718
CCDS	CCDS1556.1 CCDS44324.1
PIR	A56993 I39174
RefSeq	NP_000438.2 NP_036618.2 XP_005273256.1
UniGene	Hs.25363
ProteinModelPortal	P49810
SMR	P49810
BioGrid	111643
IntAct	P49810
MINT	MINT-95242
STRING	9606.ENSP00000355747
BindingDB	P49810
ChEMBL	CHEMBL3708
MEROPS	A22.002
TCDB	1.A.54.1.2
PhosphoSite	P49810
DMDM	1709858
MaxQB	P49810
PaxDb	P49810
PRIDE	P49810
DNASU	5664
Ensembl	ENST00000366783 ENST00000422240
GeneID	5664
KEGG	hsa:5664
UCSC	uc009xeo.1 uc009xep.1
CTD	5664
GeneCards	GC01P227058
GeneReviews	PSEN2
HGNC	HGNC:9509
HPA	CAB013634 HPA038005
MIM	600759 606889 613697
neXtProt	NX_P49810
Orphanet	1020 154
PharmGKB	PA33856
eggNOG	NOG237920
GeneTree	ENSGT00390000016593
HOGENOM	HOG000240228
HOVERGEN	HBG011375
InParanoid	P49810
KO	K04522
PhylomeDB	P49810
TreeFam	TF315040
Reactome	REACT_116022 REACT_118614 REACT_118636 REACT_118862 REACT_13443 REACT_13643 REACT_160205 REACT_160243 REACT_160254 REACT_228189
SignaLink	P49810
ChiTaRS	PSEN2
GeneWiki	PSEN2
GenomeRNAi	5664
NextBio	22010
PRO	PR:P49810
Proteomes	UP000005640
Bgee	P49810
CleanEx	HS_PSEN2
ExpressionAtlas	P49810
Genevestigator	P49810
GO	GO:0016324 GO:0030424 GO:0005938 GO:0009986 GO:0005813 GO:0036064 GO:0035253 GO:0005829 GO:0043198 GO:0005783 GO:0005789 GO:0005794 GO:0000139 GO:0030426 GO:0005887 GO:0000776 GO:0005765 GO:0016020 GO:0045121 GO:0005743 GO:0031594 GO:0043025 GO:0005637 GO:0048471 GO:0005886 GO:0043234 GO:0030018 GO:0004190 GO:0004175 GO:0042987 GO:0097190 GO:0050435 GO:0048854 GO:0006816 GO:0060048 GO:0001708 GO:0021904 GO:0030326 GO:0032469 GO:0030900 GO:0001942 GO:0002244 GO:0035556 GO:0040011 GO:0048286 GO:0006509 GO:0031293 GO:0007613 GO:0002573 GO:0043066 GO:1902042 GO:0032091 GO:0031333 GO:0001933 GO:0048011 GO:0007220 GO:0007219 GO:0043065 GO:0043085 GO:0050820 GO:1902043 GO:0016485 GO:0015031 GO:0007176 GO:0048167 GO:0001666 GO:0001756 GO:0002286 GO:0050852 GO:0048538
InterPro	IPR001493 IPR001108 IPR006639
PANTHER	PTHR10202 PTHR10202:SF11
Pfam	PF01080
PRINTS	PR01072 PR01074
SMART	SM00730

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0110097	regulation of calcium import into the mitochondrion	PMID:21285369^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	PMID:21285369^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0043085	positive regulation of catalytic activity	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0016485	protein processing	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006509	membrane protein ectodomain proteolysis	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	PMID:15274632^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	PMID:9632714^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:9298903^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005637	nuclear inner membrane	PMID:9298903^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0000776	kinetochore	PMID:9298903^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0050435	amyloid-beta metabolic process	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	P	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000024431 WB:WBGene00004769	C	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	C	Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	C	Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	C	Seeded From UniProt	complete
involved_in	GO:0007220	Notch receptor processing	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	P	Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109284 PANTHER:PTN000024431	P	Seeded From UniProt	complete
involved_in	GO:0006509	membrane protein ectodomain proteolysis	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000024431 UniProtKB:P49810	P	Seeded From UniProt	complete
part_of	GO:0005938	cell cortex	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024431	C	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 PANTHER:PTN000024429 UniProtKB:P49768 UniProtKB:P49810	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1202717 PANTHER:PTN000024429 UniProtKB:P49768	C	Seeded From UniProt	complete
enables	GO:0004175	endopeptidase activity	PMID:21873635^[6]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0019947 MGI:MGI:109284 MGI:MGI:1202717 PANTHER:PTN000024429 RGD:3425 UniProtKB:P49768	F	Seeded From UniProt	complete
part_of	GO:0099056	integral component of presynaptic membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	C	Seeded From UniProt	complete
part_of	GO:0097060	synaptic membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	C	Seeded From UniProt	complete
part_of	GO:0008021	synaptic vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	C	Seeded From UniProt	complete
part_of	GO:0005769	early endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	C	Seeded From UniProt	complete
involved_in	GO:0001666	response to hypoxia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88777 ensembl:ENSRNOP00000070964	P	Seeded From UniProt	complete
enables	GO:0004190	aspartic-type endopeptidase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108 InterPro:IPR006639	F	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108 InterPro:IPR006639	C	Seeded From UniProt	complete
involved_in	GO:0016485	protein processing	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001108	P	Seeded From UniProt	complete
involved_in	GO:0035556	intracellular signal transduction	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	P	Seeded From UniProt	complete
enables	GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	F	Seeded From UniProt	complete
involved_in	GO:0042987	amyloid precursor protein catabolic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001493	P	Seeded From UniProt	complete
involved_in	GO:0042987	amyloid precursor protein catabolic process	PMID:15274632^[3]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007220	Notch receptor processing	PMID:15274632^[3]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048013	ephrin receptor signaling pathway	Reactome:R-HSA-2682334	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	Reactome:R-HSA-205043	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0035333	Notch receptor processing, ligand-dependent	Reactome:R-HSA-9017817 Reactome:R-HSA-9013361	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0031293	membrane protein intracellular domain proteolysis	Reactome:R-HSA-193692	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-NUL-9604300 Reactome:R-NUL-2197556 Reactome:R-HSA-9017817 Reactome:R-HSA-9013361 Reactome:R-HSA-3928656 Reactome:R-HSA-2220988 Reactome:R-HSA-205112 Reactome:R-HSA-193682 Reactome:R-HSA-1251997	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0007219	Notch signaling pathway	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0914	P	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333	C	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
involved_in	GO:0006508	proteolysis	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	P	Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
enables	GO:0008233	peptidase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0645	F	Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0134	C	Seeded From UniProt	complete
	GO:0030900	forebrain development	PMID:25429133^[7]	ECO:0000314			P	The paper and experiment suggests necessary information on forebrain development	complete CACAO 10612
part_of	GO:0005789	endoplasmic reticulum membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0097	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Zampese, E et al. (2011) Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. Proc. Natl. Acad. Sci. U.S.A. 108 2777-82 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Fraering, PC et al. (2004) Purification and characterization of the human gamma-secretase complex. Biochemistry 43 9774-89 PubMed GONUTS page
↑ Yu, G et al. (1998) The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J. Biol. Chem. 273 16470-5 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Li, J et al. (1997) Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90 917-27 PubMed GONUTS page
↑ ^6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 ^6.11 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Watanabe, H et al. (2014) Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex. J. Neurosci. 34 15912-22 PubMed GONUTS page

[PMID:21285369-1] 1.0 ^1.1 Zampese, E et al. (2011) Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. Proc. Natl. Acad. Sci. U.S.A. 108 2777-82 PubMed GONUTS page

[PMID:19946888-2] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:15274632-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Fraering, PC et al. (2004) Purification and characterization of the human gamma-secretase complex. Biochemistry 43 9774-89 PubMed GONUTS page

[PMID:9632714-4] Yu, G et al. (1998) The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J. Biol. Chem. 273 16470-5 PubMed GONUTS page

[PMID:9298903-5] 5.0 ^5.1 ^5.2 Li, J et al. (1997) Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90 917-27 PubMed GONUTS page

[PMID:21873635-6] 6.00 ^6.01 ^6.02 ^6.03 ^6.04 ^6.05 ^6.06 ^6.07 ^6.08 ^6.09 ^6.10 ^6.11 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:25429133-7] Watanabe, H et al. (2014) Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex. J. Neurosci. 34 15912-22 PubMed GONUTS page

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HUMAN:PSN2

Contents

Annotations

Notes

References

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