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Protein

Presenilin-2

Gene

PSEN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2631 Publication1
Active sitei3662 Publications1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease
Biological processNotch signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P49810

SIGNOR Signaling Network Open Resource

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SIGNORi
P49810

Protein family/group databases

MEROPS protease database

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MEROPSi
A22.002

Transport Classification Database

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TCDBi
1.A.54.1.2 the presenilin er ca(2+) leak channel (presenilin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Presenilin-2 (EC:3.4.23.-)
Short name:
PS-2
Alternative name(s):
AD3LP
AD5
E5-1
STM-2
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PSEN2
Synonyms:AD4, PS2, PSNL2, STM2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143801.16

Human Gene Nomenclature Database

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HGNCi
HGNC:9509 PSEN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600759 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P49810

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109 – 138LumenalSequence analysisAdd BLAST30
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Topological domaini160 – 166CytoplasmicSequence analysis7
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 200LumenalSequence analysisAdd BLAST13
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 223CytoplasmicSequence analysis2
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 249LumenalSequence analysis5
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 361CytoplasmicSequence analysisAdd BLAST91
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Topological domaini383 – 388LumenalSequence analysis6
Transmembranei389 – 409HelicalSequence analysisAdd BLAST21
Topological domaini410 – 413CytoplasmicSequence analysis4
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei414 – 434HelicalSequence analysisAdd BLAST21
Topological domaini435 – 448CytoplasmicSequence analysisAdd BLAST14

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alzheimer disease 4 (AD4)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
See also OMIM:606889
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00646162R → H in AD4; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs58973334EnsemblClinVar.1
Natural variantiVAR_07002771R → W in AD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140501902EnsemblClinVar.1
Natural variantiVAR_009214122T → P in AD4. 1 PublicationCorresponds to variant dbSNP:rs63749851EnsemblClinVar.1
Natural variantiVAR_006462141N → I in AD4. 2 PublicationsCorresponds to variant dbSNP:rs63750215EnsemblClinVar.1
Natural variantiVAR_007958148V → I in AD4; late-onset Alzheimer disease. 1 PublicationCorresponds to variant dbSNP:rs63750812EnsemblClinVar.1
Natural variantiVAR_009215239M → I in AD4. 1 PublicationCorresponds to variant dbSNP:rs63749884EnsemblClinVar.1
Natural variantiVAR_006463239M → V in AD4; Italian patients. 1 PublicationCorresponds to variant dbSNP:rs28936379EnsemblClinVar.1
Cardiomyopathy, dilated 1V (CMD1V)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:613697

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi263D → A: Reduces production of amyloid-beta in APP processing. 1 Publication1
Mutagenesisi366D → A: Reduces production of amyloid-beta in APP processing and of NICD in NOTCH1 processing. 2 Publications1

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Cardiomyopathy, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
5664

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PSEN2

MalaCards human disease database

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MalaCardsi
PSEN2
MIMi606889 phenotype
613697 phenotype

Open Targets

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OpenTargetsi
ENSG00000143801

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1020 Early-onset autosomal dominant Alzheimer disease
154 Familial isolated dilated cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33856

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3708

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PSEN2

Domain mapping of disease mutations (DMDM)

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DMDMi
1709858

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000256031 – 297Presenilin-2 NTF subunitBy similarityAdd BLAST297
ChainiPRO_0000025604298 – 448Presenilin-2 CTF subunitBy similarityAdd BLAST151

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei22PhosphoserineCombined sources1
Modified residuei25PhosphoserineCombined sources1
Modified residuei30PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Heterogeneous proteolytic processing generates N-terminal and C-terminal fragments.
Phosphorylated on serine residues.

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P49810

MaxQB - The MaxQuant DataBase

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MaxQBi
P49810

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P49810

PeptideAtlas

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PeptideAtlasi
P49810

PRoteomics IDEntifications database

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PRIDEi
P49810

ProteomicsDB human proteome resource

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ProteomicsDBi
56139
56140 [P49810-2]
56141 [P49810-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49810

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P49810

SwissPalm database of S-palmitoylation events

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SwissPalmi
P49810

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143801 Expressed in 156 organ(s), highest expression level in body of pancreas

CleanEx database of gene expression profiles

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CleanExi
HS_PSEN2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49810 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49810 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB013634

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DOCK3 (By similarity). Homodimer. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Interacts with HERPUD1, FLNA, FLNB and PARL.By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111643, 58 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P49810

Protein interaction database and analysis system

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IntActi
P49810, 25 interactors

Molecular INTeraction database

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MINTi
P49810

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355747

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P49810

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P49810

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P49810

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi414 – 416PAL3

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PAL motif is required for normal active site conformation.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase A22A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2736 Eukaryota
ENOG410XPZD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157923

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000240228

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG011375

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49810

KEGG Orthology (KO)

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KOi
K04522

Database for complete collections of gene phylogenies

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PhylomeDBi
P49810

TreeFam database of animal gene trees

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TreeFami
TF315040

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001493 Pept_A22A_PS2
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP

The PANTHER Classification System

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PANTHERi
PTHR10202 PTHR10202, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01080 Presenilin, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01072 PRESENILIN
PR01074 PRESENILIN2

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00730 PSN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49810-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLTFMASDSE EEVCDERTSL MSAESPTPRS CQEGRQGPED GENTAQWRSQ
60 70 80 90 100
ENEEDGEEDP DRYVCSGVPG RPPGLEEELT LKYGAKHVIM LFVPVTLCMI
110 120 130 140 150
VVVATIKSVR FYTEKNGQLI YTPFTEDTPS VGQRLLNSVL NTLIMISVIV
160 170 180 190 200
VMTIFLVVLY KYRCYKFIHG WLIMSSLMLL FLFTYIYLGE VLKTYNVAMD
210 220 230 240 250
YPTLLLTVWN FGAVGMVCIH WKGPLVLQQA YLIMISALMA LVFIKYLPEW
260 270 280 290 300
SAWVILGAIS VYDLVAVLCP KGPLRMLVET AQERNEPIFP ALIYSSAMVW
310 320 330 340 350
TVGMAKLDPS SQGALQLPYD PEMEEDSYDS FGEPSYPEVF EPPLTGYPGE
360 370 380 390 400
ELEEEEERGV KLGLGDFIFY SVLVGKAAAT GSGDWNTTLA CFVAILIGLC
410 420 430 440
LTLLLLAVFK KALPALPISI TFGLIFYFST DNLVRPFMDT LASHQLYI
Length:448
Mass (Da):50,140
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA927EEC623468116
GO
Isoform 2 (identifier: P49810-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     263-296: Missing.

Show »
Length:414
Mass (Da):46,387
Checksum:i75A03F21290BAFF8
GO
Isoform 3 (identifier: P49810-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     324-324: Missing.

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):50,011
Checksum:iAA9D4FD8CB46E669
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AP22B1AP22_HUMAN
Presenilin
PSEN2 hCG_15757
481Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG63E5RG63_HUMAN
Presenilin
PSEN2
304Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFW4E5RFW4_HUMAN
Presenilin
PSEN2
144Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHT1E5RHT1_HUMAN
Presenilin-2
PSEN2
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJM5E5RJM5_HUMAN
Presenilin-2
PSEN2
21Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti123P → T (PubMed:7638622).Curated1
Sequence conflicti123P → T (Ref. 10) Curated1
Sequence conflicti295S → L in AAL16812 (Ref. 10) Curated1
Sequence conflicti325Missing in AAC50290 (PubMed:8618867).Curated1
Sequence conflicti358R → SQG in AAC50290 (PubMed:8618867).Curated1
Sequence conflicti432 – 448NLVRP…HQLYI → RKHSRFIQMN (PubMed:8618867).CuratedAdd BLAST17

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00646162R → H in AD4; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs58973334EnsemblClinVar.1
Natural variantiVAR_07002771R → W in AD4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140501902EnsemblClinVar.1
Natural variantiVAR_009214122T → P in AD4. 1 PublicationCorresponds to variant dbSNP:rs63749851EnsemblClinVar.1
Natural variantiVAR_064903130S → L in CMD1V and AD4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs63750197EnsemblClinVar.1
Natural variantiVAR_006462141N → I in AD4. 2 PublicationsCorresponds to variant dbSNP:rs63750215EnsemblClinVar.1
Natural variantiVAR_007958148V → I in AD4; late-onset Alzheimer disease. 1 PublicationCorresponds to variant dbSNP:rs63750812EnsemblClinVar.1
Natural variantiVAR_009215239M → I in AD4. 1 PublicationCorresponds to variant dbSNP:rs63749884EnsemblClinVar.1
Natural variantiVAR_006463239M → V in AD4; Italian patients. 1 PublicationCorresponds to variant dbSNP:rs28936379EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005194263 – 296Missing in isoform 2. CuratedAdd BLAST34
Alternative sequenceiVSP_043648324Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L43964 mRNA Translation: AAB59557.1
L44577 mRNA Translation: AAC42012.1
U34349 mRNA Translation: AAC50290.1
U50871 Genomic DNA Translation: AAB50054.1
BT006984 mRNA Translation: AAP35630.1
AK292299 mRNA Translation: BAF84988.1
AL391628 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69798.1
CH471098 Genomic DNA Translation: EAW69800.1
BC006365 mRNA Translation: AAH06365.1
AF416718 mRNA Translation: AAL16812.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1556.1 [P49810-1]
CCDS44324.1 [P49810-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A56993
I39174

NCBI Reference Sequences

More...
RefSeqi
NP_000438.2, NM_000447.2 [P49810-1]
NP_036618.2, NM_012486.2 [P49810-3]
XP_005273256.1, XM_005273199.3 [P49810-1]
XP_016857324.1, XM_017001835.1 [P49810-1]
XP_016857325.1, XM_017001836.1 [P49810-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.25363

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366783; ENSP00000355747; ENSG00000143801 [P49810-1]
ENST00000422240; ENSP00000403737; ENSG00000143801 [P49810-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5664

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5664

UCSC genome browser

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UCSCi
uc009xeo.2 human [P49810-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Alzheimer Research Forum

Presenilins mutations

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L43964 mRNA Translation: AAB59557.1
L44577 mRNA Translation: AAC42012.1
U34349 mRNA Translation: AAC50290.1
U50871 Genomic DNA Translation: AAB50054.1
BT006984 mRNA Translation: AAP35630.1
AK292299 mRNA Translation: BAF84988.1
AL391628 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69798.1
CH471098 Genomic DNA Translation: EAW69800.1
BC006365 mRNA Translation: AAH06365.1
AF416718 mRNA Translation: AAL16812.1
CCDSiCCDS1556.1 [P49810-1]
CCDS44324.1 [P49810-3]
PIRiA56993
I39174
RefSeqiNP_000438.2, NM_000447.2 [P49810-1]
NP_036618.2, NM_012486.2 [P49810-3]
XP_005273256.1, XM_005273199.3 [P49810-1]
XP_016857324.1, XM_017001835.1 [P49810-1]
XP_016857325.1, XM_017001836.1 [P49810-3]
UniGeneiHs.25363

3D structure databases

ProteinModelPortaliP49810
SMRiP49810
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111643, 58 interactors
CORUMiP49810
IntActiP49810, 25 interactors
MINTiP49810
STRINGi9606.ENSP00000355747

Chemistry databases

BindingDBiP49810
ChEMBLiCHEMBL3708

Protein family/group databases

MEROPSiA22.002
TCDBi1.A.54.1.2 the presenilin er ca(2+) leak channel (presenilin) family

PTM databases

iPTMnetiP49810
PhosphoSitePlusiP49810
SwissPalmiP49810

Polymorphism and mutation databases

BioMutaiPSEN2
DMDMi1709858

Proteomic databases

EPDiP49810
MaxQBiP49810
PaxDbiP49810
PeptideAtlasiP49810
PRIDEiP49810
ProteomicsDBi56139
56140 [P49810-2]
56141 [P49810-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5664
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366783; ENSP00000355747; ENSG00000143801 [P49810-1]
ENST00000422240; ENSP00000403737; ENSG00000143801 [P49810-3]
GeneIDi5664
KEGGihsa:5664
UCSCiuc009xeo.2 human [P49810-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5664
DisGeNETi5664
EuPathDBiHostDB:ENSG00000143801.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PSEN2
GeneReviewsiPSEN2
HGNCiHGNC:9509 PSEN2
HPAiCAB013634
MalaCardsiPSEN2
MIMi600759 gene
606889 phenotype
613697 phenotype
neXtProtiNX_P49810
OpenTargetsiENSG00000143801
Orphaneti1020 Early-onset autosomal dominant Alzheimer disease
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA33856

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2736 Eukaryota
ENOG410XPZD LUCA
GeneTreeiENSGT00940000157923
HOGENOMiHOG000240228
HOVERGENiHBG011375
InParanoidiP49810
KOiK04522
PhylomeDBiP49810
TreeFamiTF315040

Enzyme and pathway databases

ReactomeiR-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
SignaLinkiP49810
SIGNORiP49810

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PSEN2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PSEN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5664

Protein Ontology

More...
PROi
PR:P49810

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143801 Expressed in 156 organ(s), highest expression level in body of pancreas
CleanExiHS_PSEN2
ExpressionAtlasiP49810 baseline and differential
GenevisibleiP49810 HS

Family and domain databases

InterProiView protein in InterPro
IPR001493 Pept_A22A_PS2
IPR001108 Peptidase_A22A
IPR006639 Preselin/SPP
PANTHERiPTHR10202 PTHR10202, 2 hits
PfamiView protein in Pfam
PF01080 Presenilin, 2 hits
PRINTSiPR01072 PRESENILIN
PR01074 PRESENILIN2
SMARTiView protein in SMART
SM00730 PSN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPSN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49810
Secondary accession number(s): A8K8D4, B1AP21, Q96P32
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 5, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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