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Aliases for PSENEN Gene

Aliases for PSENEN Gene

  • Presenilin Enhancer Gamma Secretase Subunit 2 3
  • PEN2 3 4 6
  • Hematopoietic Stem/Progenitor Cells Protein MDS033 3
  • Presenilin Enhancer 2 Homolog (C. Elegans) 2
  • Gamma-Secretase Subunit PEN-2 3
  • Presenilin Enhancer 2 Homolog 3
  • Presenilin Enhancer Protein 2 4
  • MSTP064 3
  • MDS033 3
  • PEN-2 3

External Ids for PSENEN Gene

Previous GeneCards Identifiers for PSENEN Gene

  • GC19P040935
  • GC19P040936
  • GC19P040938
  • GC19P040939
  • GC19P036236
  • GC19P032741

Summaries for PSENEN Gene

Entrez Gene Summary for PSENEN Gene

  • Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for PSENEN Gene

PSENEN (Presenilin Enhancer Gamma Secretase Subunit) is a Protein Coding gene. Diseases associated with PSENEN include acne inversa, familial, 2 and hidradenitis. Among its related pathways are PI-3K cascade and Signaling by FGFR. An important paralog of this gene is ENSG00000188223.

UniProtKB/Swiss-Prot for PSENEN Gene

  • Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.

Tocris Summary for PSENEN Gene

  • Secretases are a group of enzymes involved in the proteolytic cleavage of amyloid precursor protein (APP). There are three types of secretases, alpha-secretase, beta-secretase and gamma-secretase. gamma-Secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is itself an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. Presenilin is an aspartic protease and the catalytic subunit of the complex. There are two important substrates of gamma-secretase; amyloid precursor protein (APP) and Notch. gamma-secretase can cleave several sites within APP, and the most common products are Abeta40 and Abeta42. Abeta42 is fibrillogenic and associated with disease states, notably Alzheimer's disease. gamma-Secretase catalyzes the second step in Notch protein cleavage. gamma-Secretase cleaves within the transmembrane domain of Notch, releasing the intracellular domain (Nbeta) into the cytoplasm. Nbeta moves to the nucleus where it can regulate gene expression by activating the transcription factor CSL. This gamma-secretase-Notch signaling pathway has a role in promoting angiogenesis in the embryo and wound healing in the adult.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSENEN Gene

Genomics for PSENEN Gene

Regulatory Elements for PSENEN Gene

Genomic Location for PSENEN Gene

Start:
35,745,114 bp from pter
End:
35,747,519 bp from pter
Size:
2,406 bases
Orientation:
Plus strand

Genomic View for PSENEN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSENEN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSENEN Gene

Proteins for PSENEN Gene

  • Protein details for PSENEN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ42-PEN2_HUMAN
    Recommended name:
    Gamma-secretase subunit PEN-2
    Protein Accession:
    Q9NZ42
    Secondary Accessions:
    • B2R5L9

    Protein attributes for PSENEN Gene

    Size:
    101 amino acids
    Molecular mass:
    12029 Da
    Quaternary structure:
    • Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist

neXtProt entry for PSENEN Gene

Proteomics data for PSENEN Gene at MOPED

Post-translational modifications for PSENEN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSENEN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PSENEN Gene

Domains for PSENEN Gene

Protein Domains for PSENEN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSENEN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZ42

UniProtKB/Swiss-Prot:

PEN2_HUMAN :
  • Q9NZ42
Family:
  • Belongs to the PEN-2 family.
genes like me logo Genes that share domains with PSENEN: view

No data available for Gene Families for PSENEN Gene

Function for PSENEN Gene

Molecular function for PSENEN Gene

UniProtKB/Swiss-Prot Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.

Gene Ontology (GO) - Molecular Function for PSENEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16641999
genes like me logo Genes that share ontologies with PSENEN: view
genes like me logo Genes that share phenotypes with PSENEN: view

Animal Models for PSENEN Gene

MGI Knock Outs for PSENEN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PSENEN Gene

Localization for PSENEN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSENEN Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSENEN Gene COMPARTMENTS Subcellular localization image for PSENEN gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
extracellular 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PSENEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15274632
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IDA 15274632
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 15274632
genes like me logo Genes that share ontologies with PSENEN: view

Pathways for PSENEN Gene

genes like me logo Genes that share pathways with PSENEN: view

Gene Ontology (GO) - Biological Process for PSENEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006509 membrane protein ectodomain proteolysis IDA 15274632
GO:0007219 Notch signaling pathway TAS --
GO:0007220 Notch receptor processing TAS 15274632
GO:0007411 axon guidance TAS --
GO:0016485 protein processing IDA 15274632
genes like me logo Genes that share ontologies with PSENEN: view

Compounds for PSENEN Gene

(17) ApexBio Compounds for PSENEN Gene

Compound Action Cas Number
Begacestat gamma-secretase inhibitor [769169-27-9]
BMS 299897 Orally active, potent gamma-secretase inhibitor. [290315-45-6]
BMS-708163 (Avagacestat) potent, selective an [1146699-66-2]
Compound W Inhibitor of gamma-secretase. [173550-33-9]
DAPT (GSI-IX) potent and specific inhibitor of gamma-secretase. [208255-80-5]
E 2012 potent gamma-secretase modulator. [870843-42-8]
Flurizan inhibits gamma-secretase activity. [51543-40-9]
JLK 6 Inhibitor of gamma-secretase. [62252-26-0]
L-685,458 Potent and selective gamma-secretase Inhibitor [292632-98-5]
LY3039478 potent Notch inhibitor [1421438-81-4]
LY-411575 selective, cell permeable, small molecule gamma secretase inhibitor. [209984-57-6]
MK-0752 potent gamma secretase inhibitor [471905-41-6]
MRK 560 gamma-secretase Inhibitor
PF-03084014 novel gamma-secretase inhibitor [865773-15-5]
RO4929097 small-molecule inhibitor of gamma secretase [847925-91-1]
Semagacestat (LY450139) azepine class gamma-secretase [425386-60-3]
YO-01027 (Dibenzazepine, DBZ) potent inhibitor of gamma-secretaseproteins. [209984-56-5]

(5) Tocris Compounds for PSENEN Gene

Compound Action Cas Number
L-685,458 Potent and selective gamma-secretase inhibitor [292632-98-5]
Begacestat gamma-secretase inhibitor; lowers Abeta40 and Abeta42 levels [769169-27-9]
BMS 299897 Potent gamma-secretase inhibitor [290315-45-6]
DAPT gamma-secretase inhibitor [208255-80-5]
DBZ gamma-secretase inhibitor; inhibits Notch pathway [209984-56-5]

(5) Novoseek inferred chemical compound relationships for PSENEN Gene

Compound -log(P) Hits PubMed IDs
lactacystin 37.3 1
molybdenum 23.7 3
sterol 8.67 2
lipid 1.33 3
cholesterol 0 1
genes like me logo Genes that share compounds with PSENEN: view

Transcripts for PSENEN Gene

mRNA/cDNA for PSENEN Gene

Unigene Clusters for PSENEN Gene

Presenilin enhancer 2 homolog (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSENEN Gene

No ASD Table

Relevant External Links for PSENEN Gene

GeneLoc Exon Structure for
PSENEN
ECgene alternative splicing isoforms for
PSENEN

Expression for PSENEN Gene

mRNA expression in normal human tissues for PSENEN Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSENEN Gene

SOURCE GeneReport for Unigene cluster for PSENEN Gene Hs.534465

mRNA Expression by UniProt/SwissProt for PSENEN Gene

Q9NZ42-PEN2_HUMAN
Tissue specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.
genes like me logo Genes that share expressions with PSENEN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PSENEN Gene

Orthologs for PSENEN Gene

This gene was present in the common ancestor of animals.

Orthologs for PSENEN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSENEN 35
  • 100 (n)
  • 100 (a)
PSENEN 36
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PSENEN 35
  • 91.42 (n)
  • 94.06 (a)
PSENEN 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PSENEN 35
  • 94.39 (n)
  • 99.01 (a)
PSENEN 36
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Psenen 35
  • 91.09 (n)
  • 96.04 (a)
Psenen 16
Psenen 36
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Psenen 35
  • 91.42 (n)
  • 96.04 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia psenen 35
  • 71.29 (n)
  • 71.29 (a)
zebrafish
(Danio rerio)
Actinopterygii psenen 35
  • 66.67 (n)
  • 77 (a)
psenen 36
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008094 35
  • 59.26 (n)
  • 54.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta pen-2 35
  • 64.33 (n)
  • 61 (a)
pen-2 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pen-2 35
  • 51.18 (n)
  • 43.43 (a)
pen-2 36
  • 43 (a)
OneToMany
Species with no ortholog for PSENEN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSENEN Gene

ENSEMBL:
Gene Tree for PSENEN (if available)
TreeFam:
Gene Tree for PSENEN (if available)

Paralogs for PSENEN Gene

Paralogs for PSENEN Gene

genes like me logo Genes that share paralogs with PSENEN: view

Variants for PSENEN Gene

Structural Variations from Database of Genomic Variants (DGV) for PSENEN Gene

Variant ID Type Subtype PubMed ID
dgv3852n71 CNV Loss 21882294
dgv3853n71 CNV Loss 21882294
nsv515536 CNV Loss 19592680

Relevant External Links for PSENEN Gene

HapMap Linkage Disequilibrium report
PSENEN
Human Gene Mutation Database (HGMD)
PSENEN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for PSENEN Gene

Disorders for PSENEN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (8) Diseases for PSENEN Gene including...

Search for PSENEN Gene in MalaCards »

(1) OMIM Diseases for PSENEN Gene (607632)

UniProtKB/Swiss-Prot

PEN2_HUMAN
  • Acne inversa, familial, 2 (ACNINV2) [MIM:613736]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO:0000269 PubMed:20929727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for PSENEN Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 78.9 12
senile plaques 72.8 4
neurodegenerative diseases 0.753 1
dementia 0 1

Relevant External Links for PSENEN

Genetic Association Database (GAD)
PSENEN
Human Genome Epidemiology (HuGE) Navigator
PSENEN
genes like me logo Genes that share disorders with PSENEN: view

Publications for PSENEN Gene

  1. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PMID: 12740439) Kimberly W.T. … Selkoe D.J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  2. APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity. (PMID: 12763021) Marlow L. … Sambamurti K. (Biochem. Biophys. Res. Commun. 2003) 3 4 23
  3. PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin. (PMID: 12198112) Steiner H. … Haass C. (J. Biol. Chem. 2002) 3 4 23
  4. PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. (PMID: 12522139) Luo W.-J. … Xu H. (J. Biol. Chem. 2003) 3 4 23
  5. Membrane topology of gamma-secretase component PEN-2. (PMID: 12639958) Crystal A.S. … Doms R.W. (J. Biol. Chem. 2003) 3 4 23

Products for PSENEN Gene

Sources for PSENEN Gene

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