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Aliases for PSENEN Gene

Aliases for PSENEN Gene

  • Presenilin Enhancer Gamma Secretase Subunit 2 3 5
  • PEN2 3 4
  • Hematopoietic Stem/Progenitor Cells Protein MDS033 3
  • Presenilin Enhancer 2 Homolog (C. Elegans) 2
  • 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
  • GC19P035802
  • GC19P035831

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 autoinflammation, antibody deficiency, and immune dysregulation syndrome. Among its related pathways are Signaling by GPCR and Infectious disease. 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

  • gamma-secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. gamma-secretase is involved in the processing of Notch.

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

Promoters for PSENEN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSENEN on UCSC Golden Path with GeneCards custom track

Genomic Location for PSENEN Gene

Chromosome:
19
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

Genes around PSENEN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSENEN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for PSENEN Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSENEN (PSENEN)

No data available for DME Specific Peptides for PSENEN Gene

Domains & Families 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 :
  • Belongs to the PEN-2 family.
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.
genes like me logo Genes that share phenotypes with PSENEN: view

Human Phenotype Ontology for PSENEN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSENEN Gene

MGI Knock Outs for PSENEN:

Animal Model Products

  • Taconic Biosciences Mouse Models for PSENEN

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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. {ECO:0000269 PubMed:12522139}.

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 5
chloroplast 1
endosome 1
extracellular 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PSENEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
GO:0070765 gamma-secretase complex IBA --
genes like me logo Genes that share ontologies with PSENEN: view

Pathways & Interactions for PSENEN Gene

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

SIGNOR curated interactions for PSENEN Gene

Activates:
Is activated by:

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:0007220 Notch receptor processing TAS 15274632
GO:0007411 axon guidance TAS --
GO:0031293 membrane protein intracellular domain proteolysis TAS --
GO:0042987 amyloid precursor protein catabolic process TAS 15274632
genes like me logo Genes that share ontologies with PSENEN: view

Drugs & Compounds for PSENEN Gene

(13) Drugs for PSENEN Gene - From: DGIdb, Novoseek, ApexBio, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
E2012 Investigational Pharma Target 0
LY2811376 Pharma Non-peptidic BACE1 inhibitor 0
LY-411575 Pharma Gamma secretase inhibitor 0
MK-0752 Pharma γ-secretase inhibitor 0
RO4929097 Pharma γ secretase inhibitor, Other 0

(8) Additional Compounds for PSENEN Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BMS 299897
290315-45-6
Compound W
173550-33-9
DAPT
208255-80-5
JLK 6
62252-26-0
L-685,458
292632-98-5
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

Protein differential expression in normal tissues from HIPED for PSENEN Gene

This gene is overexpressed in Spleen (26.7), Ovary (15.3), Fetal testis (10.0), and Prostate (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PSENEN: view

Protein tissue co-expression partners for PSENEN Gene

Primer Products

In Situ Assay Products

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 36
  • 95 (a)
OneToMany
PSENEN 35
  • 91.42 (n)
  • 94.06 (a)
dog
(Canis familiaris)
Mammalia PSENEN 35
  • 94.39 (n)
  • 99.01 (a)
PSENEN 36
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Psenen 16
Psenen 36
  • 96 (a)
OneToMany
Psenen 35
  • 91.09 (n)
  • 96.04 (a)
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 36
  • 76 (a)
OneToMany
psenen 35
  • 66.67 (n)
  • 77 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008094 35
  • 59.26 (n)
  • 54.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta pen-2 36
  • 60 (a)
OneToMany
pen-2 35
  • 64.33 (n)
  • 61 (a)
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

Variation tolerance for PSENEN Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.20% of all genes are more intolerant (likely to be disease-causing)

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

(12) MalaCards diseases for PSENEN Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acne inversa, familial, 2
  • acne inversa familial
autoinflammation, antibody deficiency, and immune dysregulation syndrome
  • autoinflammation-plcg2-associated antibody deficiency-immune dysregulation
acne
  • acne varioliformis
hidradenitis suppurativa
  • acne inversa, familial
hidradenitis
  • hydradenitis
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for PSENEN

Genetic Association Database (GAD)
PSENEN
Human Genome Epidemiology (HuGE) Navigator
PSENEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSENEN
genes like me logo Genes that share disorders with PSENEN: view

No data available for Genatlas for PSENEN Gene

Publications for PSENEN Gene

  1. aph-1 and pen-2 are required for Notch pathway signaling, gamma- secretase cleavage of betaAPP, and presenilin protein accumulation. (PMID: 12110170) Francis R. … Curtis D. (Dev. Cell 2002) 2 3 4 67
  2. Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes. (PMID: 19036728) Placanica L. … Li Y.M. (J. Biol. Chem. 2009) 3 23
  3. p53-dependent control of transactivation of the Pen2 promoter by presenilins. (PMID: 19889971) Dunys J. … da Costa C.A. (J. Cell. Sci. 2009) 3 23
  4. Genetic association between polymorphisms of Pen2 gene and late onset Alzheimer's disease in the North Chinese population. (PMID: 17280645) Jia L. … Jia J. (Brain Res. 2007) 3 23
  5. Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1. (PMID: 17668005) Kaether C. … Haass C. (EMBO Rep. 2007) 3 23

Products for PSENEN Gene

Sources for PSENEN Gene

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