PSEN2 information

PSEN2
Identifiers
Aliases	PSEN2, AD3L, AD4, CMD1V, PS2, STM2, presenilin 2
External IDs	OMIM: 600759; MGI: 109284; HomoloGene: 386; GeneCards: PSEN2; OMA:PSEN2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	226,927,726 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	180,091,003 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; skeletal muscle tissue; ; gastrocnemius muscle; ; islet of Langerhans; ; right adrenal gland; ; sural nerve; ; pituitary gland; ; anterior pituitary; ; left uterine tube; ; prostate;
	Top expressed in
	left lobe of liver; ; olfactory epithelium; ; facial motor nucleus; ; iris; ; ankle joint; ; subcutaneous adipose tissue; ; islet of Langerhans; ; white adipose tissue; ; spleen; ; epithelium of stomach;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	endopeptidase activity; peptidase activity; protein binding; hydrolase activity; aspartic endopeptidase activity, intramembrane cleaving; aspartic-type endopeptidase activity;
Cellular component	integral component of membrane; centrosome; Golgi apparatus; endoplasmic reticulum membrane; membrane; Golgi membrane; plasma membrane; integral component of plasma membrane; neuronal cell body; nuclear inner membrane; Z disc; endoplasmic reticulum; perinuclear region of cytoplasm; kinetochore; mitochondrial inner membrane; lysosomal membrane; cell cortex; cell surface; axon; growth cone; neuromuscular junction; ciliary rootlet; dendritic shaft; membrane raft; nucleus; early endosome; synaptic vesicle; apical plasma membrane; protein-containing complex; synaptic membrane; integral component of presynaptic membrane; intracellular anatomical structure;
Biological process	Notch signaling pathway; intracellular signal transduction; response to hypoxia; ephrin receptor signaling pathway; protein processing; positive regulation of catalytic activity; negative regulation of apoptotic process; amyloid-beta metabolic process; proteolysis; membrane protein ectodomain proteolysis; membrane protein intracellular domain proteolysis; positive regulation of apoptotic process; Notch receptor processing; calcium ion transport; amyloid precursor protein catabolic process; Notch receptor processing, ligand-dependent; regulation of calcium import into the mitochondrion; mitochondrion-endoplasmic reticulum membrane tethering;
	Sources:Amigo / QuickGO
Orthologs
	5664
	19165
	ENSG00000143801
	ENSMUSG00000010609
	P49810
	Q61144
	NM_000447; NM_012486
	NM_001128605; NM_011183
	NP_000438; NP_036618
	NP_001122077; NP_035313
	Wikidata
View/Edit Human	View/Edit Mouse

Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143801 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010609 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K (September 1995). "Candidate gene for the chromosome 1 familial Alzheimer's disease locus". Science. 269 (5226): 973–977. Bibcode:1995Sci...269..973L. doi:10.1126/science.7638622. PMID 7638622. S2CID 27296868.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143801 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010609 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7638622-5] Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K (September 1995). "Candidate gene for the chromosome 1 familial Alzheimer's disease locus". Science. 269 (5226): 973–977. Bibcode:1995Sci...269..973L. doi:10.1126/science.7638622. PMID 7638622. S2CID 27296868.

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