Details for: PSEN2

Gene ID: 5664

Symbol: PSEN2

Ensembl ID: ENSG00000143801

Description: presenilin 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 57.7324
    Cell Significance Index: -8.9800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 33.5510
    Cell Significance Index: -8.5100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 18.5597
    Cell Significance Index: -7.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 7.9917
    Cell Significance Index: -7.6300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.2995
    Cell Significance Index: -9.0000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.8296
    Cell Significance Index: -7.5800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.2833
    Cell Significance Index: -9.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.5258
    Cell Significance Index: 40.8900
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.9954
    Cell Significance Index: 3.7100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8883
    Cell Significance Index: 12.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.8367
    Cell Significance Index: 43.5800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6521
    Cell Significance Index: 39.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6494
    Cell Significance Index: 586.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5422
    Cell Significance Index: 53.6400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5311
    Cell Significance Index: 57.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4999
    Cell Significance Index: 25.9700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4018
    Cell Significance Index: 65.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3664
    Cell Significance Index: 69.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3388
    Cell Significance Index: 7.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2925
    Cell Significance Index: 20.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2617
    Cell Significance Index: 5.7300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2348
    Cell Significance Index: 6.7700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2187
    Cell Significance Index: 5.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2162
    Cell Significance Index: 43.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2098
    Cell Significance Index: 9.7800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1581
    Cell Significance Index: 2.2700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1297
    Cell Significance Index: 5.8800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1138
    Cell Significance Index: 19.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1053
    Cell Significance Index: 12.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1005
    Cell Significance Index: 18.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0957
    Cell Significance Index: 11.1600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0864
    Cell Significance Index: 11.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0842
    Cell Significance Index: 11.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0621
    Cell Significance Index: 4.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0591
    Cell Significance Index: 21.2000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0584
    Cell Significance Index: 1.4600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0564
    Cell Significance Index: 76.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0522
    Cell Significance Index: 10.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0506
    Cell Significance Index: 5.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0488
    Cell Significance Index: 1.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0438
    Cell Significance Index: 2.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0432
    Cell Significance Index: 23.5900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0248
    Cell Significance Index: 0.8700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0182
    Cell Significance Index: 0.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0095
    Cell Significance Index: 1.2300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0095
    Cell Significance Index: 0.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0088
    Cell Significance Index: 4.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0074
    Cell Significance Index: 3.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0049
    Cell Significance Index: 7.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0023
    Cell Significance Index: 4.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0023
    Cell Significance Index: 4.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0021
    Cell Significance Index: 0.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0010
    Cell Significance Index: 0.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0007
    Cell Significance Index: -0.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0008
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0023
    Cell Significance Index: -1.4600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0031
    Cell Significance Index: -1.9600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0033
    Cell Significance Index: -2.4000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0040
    Cell Significance Index: -3.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0044
    Cell Significance Index: -2.4600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0066
    Cell Significance Index: -0.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0091
    Cell Significance Index: -0.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0159
    Cell Significance Index: -3.3500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0232
    Cell Significance Index: -0.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0261
    Cell Significance Index: -7.5000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0276
    Cell Significance Index: -1.3000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0294
    Cell Significance Index: -0.6100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0409
    Cell Significance Index: -1.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0446
    Cell Significance Index: -1.3100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0567
    Cell Significance Index: -0.9000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0567
    Cell Significance Index: -3.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0636
    Cell Significance Index: -7.5000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0662
    Cell Significance Index: -0.6100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0702
    Cell Significance Index: -2.2500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0706
    Cell Significance Index: -7.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0822
    Cell Significance Index: -5.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0825
    Cell Significance Index: -5.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0881
    Cell Significance Index: -5.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0925
    Cell Significance Index: -5.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0999
    Cell Significance Index: -7.9200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1053
    Cell Significance Index: -2.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1059
    Cell Significance Index: -2.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1108
    Cell Significance Index: -3.8500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1161
    Cell Significance Index: -1.9900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1231
    Cell Significance Index: -1.2900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1243
    Cell Significance Index: -1.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1247
    Cell Significance Index: -8.0500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1293
    Cell Significance Index: -3.6900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1382
    Cell Significance Index: -1.9400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1398
    Cell Significance Index: -3.7400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1447
    Cell Significance Index: -1.1800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1473
    Cell Significance Index: -2.2200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1477
    Cell Significance Index: -2.1200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1495
    Cell Significance Index: -3.8200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1589
    Cell Significance Index: -3.1900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1648
    Cell Significance Index: -5.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1662
    Cell Significance Index: -3.8400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1677
    Cell Significance Index: -2.4800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1724
    Cell Significance Index: -3.6600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 Ensembl 9 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 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 12 RefSeq 5 SIGNOR 1 SMART 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.