Details for: PSEN2

Gene ID: 5664

Symbol: PSEN2

Ensembl ID: ENSG00000143801

Description: presenilin 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.44
    Marker Score: 2724
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.33
    Marker Score: 5142
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.24
    Marker Score: 725
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 1.19
    Marker Score: 778
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71789
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48014
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.97
    Marker Score: 15203
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 489
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5105
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5270
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.84
    Marker Score: 505
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1248
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.74
    Marker Score: 1553
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 380
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 548.5
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.71
    Marker Score: 6272
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 284
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.7
    Marker Score: 174
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.69
    Marker Score: 1404
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.69
    Marker Score: 215
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.68
    Marker Score: 2850
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 621
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.61
    Marker Score: 291
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.58
    Marker Score: 358
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.58
    Marker Score: 443
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.58
    Marker Score: 5987
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.56
    Marker Score: 225
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.54
    Marker Score: 202
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.54
    Marker Score: 896
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.53
    Marker Score: 773
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.51
    Marker Score: 328
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.49
    Marker Score: 1146
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.48
    Marker Score: 495
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.48
    Marker Score: 437.5
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.47
    Marker Score: 530
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.47
    Marker Score: 673
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.45
    Marker Score: 1777
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.45
    Marker Score: 1831
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.45
    Marker Score: 1541
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.44
    Marker Score: 4456.5
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.43
    Marker Score: 305
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.43
    Marker Score: 212
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.41
    Marker Score: 894.5
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.4
    Marker Score: 3499
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.4
    Marker Score: 430
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.39
    Marker Score: 608
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.39
    Marker Score: 385
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.39
    Marker Score: 94
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.38
    Marker Score: 9649
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.37
    Marker Score: 126
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.37
    Marker Score: 95
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.37
    Marker Score: 365
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.37
    Marker Score: 548
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.37
    Marker Score: 22853
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.37
    Marker Score: 150
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.37
    Marker Score: 191
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.37
    Marker Score: 106
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.36
    Marker Score: 80
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.35
    Marker Score: 93
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.35
    Marker Score: 151
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.34
    Marker Score: 144
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.34
    Marker Score: 180
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.34
    Marker Score: 778
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.34
    Marker Score: 285
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.34
    Marker Score: 233
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.34
    Marker Score: 449
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.33
    Marker Score: 296
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.33
    Marker Score: 106
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.33
    Marker Score: 294
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.33
    Marker Score: 622
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.33
    Marker Score: 847
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.32
    Marker Score: 407
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.32
    Marker Score: 3055
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.32
    Marker Score: 82
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.32
    Marker Score: 5671
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.32
    Marker Score: 442
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.32
    Marker Score: 2998
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.32
    Marker Score: 141
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.32
    Marker Score: 332
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.31
    Marker Score: 345
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.31
    Marker Score: 11408
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.31
    Marker Score: 621
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.3
    Marker Score: 11551
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.3
    Marker Score: 106
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.3
    Marker Score: 95
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.29
    Marker Score: 221
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.29
    Marker Score: 345
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.29
    Marker Score: 332
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.29
    Marker Score: 307
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.29
    Marker Score: 791
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.29
    Marker Score: 1182

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Other Information

**Key Characteristics:** PSEN2 is a 208-amino acid transmembrane protein that belongs to the presenilin family, which is characterized by its ability to cleave the intramembranous domain of Notch receptors. This cleavage event triggers the release of the Notch intracellular domain (NICD), which then translocates to the nucleus to regulate gene expression. PSEN2 is highly conserved across species and is expressed in various tissues, including the nervous system, where it plays a critical role in the development and maintenance of neural cells. **Pathways and Functions:** PSEN2 is involved in several Notch signaling pathways, including: 1. **Activated Notch1 transmits signal to the nucleus:** PSEN2 cleaves the Notch1 receptor, releasing the NICD, which then translocates to the nucleus to regulate gene expression. 2. **Amyloid-beta formation:** PSEN2 is involved in the cleavage of the amyloid precursor protein (APP), which is a key event in the formation of amyloid-beta plaques, a hallmark of Alzheimer's disease. 3. **Axon guidance:** PSEN2 regulates the guidance of axons during neural development, ensuring proper neuronal connections and circuit formation. 4. **Cell death signaling:** PSEN2 is involved in the regulation of cell death signaling pathways, including the Notch3 and Nrif pathways, which are critical for maintaining tissue homeostasis. **Clinical Significance:** Mutations in the PSEN2 gene have been associated with early-onset familial Alzheimer's disease, accounting for approximately 5% of all AD cases. These mutations lead to the formation of a dysfunctional Notch signaling pathway, which contributes to the development of AD. Additionally, PSEN2 has been implicated in other diseases, including cancer, where it may play a role in tumor growth and progression. Furthermore, PSEN2 has been identified as a potential therapeutic target for the treatment of AD, with several compounds targeting the PSEN2-Notch signaling pathway showing promise in preclinical studies. In conclusion, PSEN2 is a critical component of the Notch signaling pathway, and its dysregulation has been implicated in various diseases, including Alzheimer's disease. Further research is needed to fully elucidate the mechanisms by which PSEN2 contributes to disease pathogenesis and to develop effective therapeutic strategies targeting this gene.

Genular Protein ID: 2250014720

Symbol: PSN2_HUMAN

Name: Presenilin-2

UniProtKB Accession Codes:

P49810 A8K8D4 B1AP21 Q96P32

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 EMDB 2 EPD 1 Ensembl 9 ExpressionAtlas 1 GO 44 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NIAGADS 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 2 PDBsum 2 PIR 2 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 11 RefSeq 5 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7638622

Title: Candidate gene for the chromosome 1 familial Alzheimer's disease locus.

PubMed ID: 7638622

DOI: 10.1126/science.7638622

PubMed ID: 7651536

Title: Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

PubMed ID: 7651536

DOI: 10.1038/376775a0

PubMed ID: 8618867

Title: Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.

PubMed ID: 8618867

DOI: 10.1073/pnas.92.26.12180

PubMed ID: 8661049

Title: Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.

PubMed ID: 8661049

DOI: 10.1006/geno.1996.0266

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8574969

Title: Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

PubMed ID: 8574969

DOI: 10.1038/nm0296-224

PubMed ID: 9437013

Title: Interaction of presenilins with the filamin family of actin-binding proteins.

PubMed ID: 9437013

DOI: 10.1523/jneurosci.18-03-00914.1998

PubMed ID: 10497236

Title: A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling.

PubMed ID: 10497236

DOI: 10.1074/jbc.274.40.28669

PubMed ID: 10652302

Title: The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation.

PubMed ID: 10652302

DOI: 10.1074/jbc.275.5.3173

PubMed ID: 11799129

Title: Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.

PubMed ID: 11799129

DOI: 10.1074/jbc.m112372200

PubMed ID: 9521418

Title: Presenilin mutations in Alzheimer's disease.

PubMed ID: 9521418

DOI: 10.1002/(sici)1098-1004(1998)11:3<183::aid-humu1>3.0.co;2-j

PubMed ID: 15385547

Title: Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins.

PubMed ID: 15385547

DOI: 10.1074/jbc.m407898200

PubMed ID: 16959576

Title: Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.

PubMed ID: 16959576

DOI: 10.1016/j.cell.2006.06.059

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21285369

Title: Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.

PubMed ID: 21285369

DOI: 10.1073/pnas.1100735108

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 9384602

Title: Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

PubMed ID: 9384602

DOI: 10.1093/hmg/7.1.43

PubMed ID: 10732806

Title: A novel mutation in the predicted TM2 domain of the presenilin 2 gene in Spanish patient with late-onset Alzheimer's disease.

PubMed ID: 10732806

DOI: 10.1007/s100480050044

PubMed ID: 10631141

Title: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

PubMed ID: 10631141

DOI: 10.1086/302702

PubMed ID: 14681895

Title: Atypical dementia associated with a novel presenilin-2 mutation.

PubMed ID: 14681895

DOI: 10.1002/ana.10760

PubMed ID: 17186461

Title: Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

PubMed ID: 17186461

DOI: 10.1086/509900

PubMed ID: 16752394

Title: Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

PubMed ID: 16752394

DOI: 10.1002/humu.20336

PubMed ID: 21544564

Title: Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.

PubMed ID: 21544564

DOI: 10.1007/s00415-011-6066-1

PubMed ID: 22503161

Title: Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

PubMed ID: 22503161

DOI: 10.1016/j.neurobiolaging.2012.02.020

PubMed ID: 24844686

Title: Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.

PubMed ID: 24844686

DOI: 10.3233/jad-140399

PubMed ID: 24838186

Title: Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.

PubMed ID: 24838186

DOI: 10.1016/j.neurobiolaging.2014.04.011

Sequence Information:

  • Length: 448
  • Mass: 50140
  • Checksum: A927EEC623468116
  • Sequence:
    • MLTFMASDSE EEVCDERTSL MSAESPTPRS CQEGRQGPED GENTAQWRSQ ENEEDGEEDP 
DRYVCSGVPG RPPGLEEELT LKYGAKHVIM LFVPVTLCMI VVVATIKSVR FYTEKNGQLI 
YTPFTEDTPS VGQRLLNSVL NTLIMISVIV VMTIFLVVLY KYRCYKFIHG WLIMSSLMLL 
FLFTYIYLGE VLKTYNVAMD YPTLLLTVWN FGAVGMVCIH WKGPLVLQQA YLIMISALMA 
LVFIKYLPEW SAWVILGAIS VYDLVAVLCP KGPLRMLVET AQERNEPIFP ALIYSSAMVW 
TVGMAKLDPS SQGALQLPYD PEMEEDSYDS FGEPSYPEVF EPPLTGYPGE ELEEEEERGV 
KLGLGDFIFY SVLVGKAAAT GSGDWNTTLA CFVAILIGLC LTLLLLAVFK KALPALPISI 
TFGLIFYFST DNLVRPFMDT LASHQLYI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.