Aliases for PSENEN Gene
Aliases for PSENEN Gene
External Ids for PSENEN Gene
- HGNC: 30100
- Entrez Gene: 55851
- Ensembl: ENSG00000205155
- OMIM: 607632
- UniProtKB: Q9NZ42
Previous GeneCards Identifiers for PSENEN Gene
- GC19P040935
- GC19P040936
- GC19P040938
- GC19P040939
- GC19P036236
- GC19P032741
- GC19P035802
- GC19P035831
- GC19P035988
- GC19P036011
- GC19P036174
- GC19P036252
- GC19P036418
Summaries 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, With Or Without Dowling-Degos Disease and Dowling-Degos Disease. Among its related pathways are Signaling by NOTCH1 and p75 NTR receptor-mediated signalling. 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 (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111).
-
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.
Additional gene information for PSENEN Gene
- Monarch Initiative
- Search for PSENEN at DataMed
- Search for PSENEN at HumanCyc
No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSENEN Gene
Genomics for PSENEN Gene
GeneHancer (GH) Regulatory Elements for PSENEN Gene
Promoters and enhancers for PSENEN Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH19I035743 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 550.8 | +1.4 | 1448 | 5.9 | HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B | U2AF1L4 LIN37 ENSG00000188223 GC19P036724 PSENEN ENSG00000267120 TMEM147-AS1 ZNF567 KMT2B ZNF566 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PSENEN on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PSENEN gene promoter:
Regulatory Element Products
Genomic Locations for PSENEN Gene
Genomic Locations for PSENEN Gene
- chr19:35,745,114-35,747,519
- (GRCh38/hg38)
- Size:
- 2,406 bases
- Orientation:
- Plus strand
- chr19:36,236,015-36,237,911
- (GRCh37/hg19)
Genomic View for PSENEN Gene
Genes around PSENEN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.12 by Ensembl
- 19q13.12 by Entrez Gene
- 19q13.12 by HGNC
PSENEN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2R5L9
Protein attributes for PSENEN Gene
- Size:
- 101 amino acids
- Molecular mass:
- 12029 Da
- Quaternary structure:
-
- The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2.
Protein Expression for PSENEN Gene
Post-translational modifications for PSENEN Gene
No Post-translational modifications
Other Protein References for PSENEN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PSENEN (PSENEN)
- Cell Signaling Technology (CST) Antibodies for PSENEN (PSENEN)
-
Custom Antibody ServicesOriGene Antibodies for PSENEN
- Novus Biologicals Antibodies for PSENEN
-
Abcam antibodies for PSENEN
- Invitrogen Antibodies for PSENEN
- antibodies-online: Search results for 64 available PSENEN Antibodies ranked by validation data
- Compare Top PSENEN Antibodies
-
Recommended
- 45 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 29 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- Search GeneTex for Antibodies for PSENEN
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSENEN
Protein Products
-
OriGene Purified Proteins for PSENEN
- Search Origene for MassSpec and Protein Over-expression Lysates for PSENEN
- Origene Custom Protein Services for PSENEN
- Search GeneTex for Proteins for PSENEN
-
Abcam proteins for PSENEN
Assay Products
No data available for DME Specific Peptides for PSENEN Gene
Domains & Families for PSENEN Gene
Gene Families for PSENEN Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
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- Family:
-
- Belongs to the PEN-2 family.
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 (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity (PubMed:12522139, PubMed:12763021, PubMed:12740439, PubMed:12679784, PubMed:24941111).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16641999 |
Phenotypes for PSENEN Gene
- MGI mutant phenotypes for PSENEN:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PSENEN:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
Animal Models for PSENEN Gene
- MGI Knock Outs for PSENEN:
-
- Psenen tm1Lex
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PSENEN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PSENEN gene
- Search ViGene Biosciences for PSENEN
CRISPR Products
-
OriGene CRISPR knockouts for PSENEN
- genomics-online: gRNA clones - Search results for available PSENEN gene related products
- Applied Biological Materials CRISPR for PSENEN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSENEN
- GenScript: Design CRISPR guide RNA sequences for PSENEN
miRNA for PSENEN Gene
- miRTarBase miRNAs that target PSENEN
-
- hsa-mir-1343-3p (MIRT762569)
- hsa-mir-214-5p (MIRT763834)
- hsa-mir-30c-1-3p (MIRT764667)
- hsa-mir-30c-2-3p (MIRT764712)
- hsa-mir-3173-3p (MIRT765225)
- hsa-mir-3192-5p (MIRT765449)
- hsa-mir-4428 (MIRT768894)
- hsa-mir-4477b (MIRT769497)
- hsa-mir-6132 (MIRT775905)
- hsa-mir-6510-5p (MIRT776749)
- hsa-mir-6728-3p (MIRT777938)
- hsa-mir-6731-5p (MIRT777983)
- hsa-mir-6742-3p (MIRT778148)
- hsa-mir-6748-3p (MIRT778323)
- hsa-mir-6783-3p (MIRT779073)
- hsa-mir-6788-5p (MIRT779244)
- hsa-mir-6792-5p (MIRT779318)
- hsa-mir-6836-5p (MIRT780070)
- hsa-mir-6852-5p (MIRT780461)
- hsa-mir-6878-5p (MIRT780775)
- hsa-mir-6891-5p (MIRT781164)
- hsa-mir-7856-5p (MIRT782267)
- hsa-mir-8085 (MIRT782426)
- hsa-mir-939-3p (MIRT782830)
miRNA Products
- Search ViGene Biosciences for PSENEN
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for PSENEN
- Browse OriGene Inhibitory RNA Products For PSENEN
- genomics-online: shRNA clones - Search results for available PSENEN gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PSENEN gene
Clone Products
- Sino Biological Human cDNA Clone for PSENEN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available PSENEN gene related products
- orf clones - Search results for available PSENEN gene related products
- Applied Biological Materials Clones for PSENEN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PSENEN
-
ViGene Biosciences adenoviral particle packaged cDNA for PSENEN gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PSENEN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PSENEN gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000269 PubMed:12639958}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| lysosome | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PSENEN Gene
Pathways & Interactions for PSENEN Gene
Pathways by source for PSENEN Gene
2 Cell Signaling Technology pathways for PSENEN Gene
6 BioSystems pathways for PSENEN Gene
26 Reactome pathways for PSENEN Gene
2 KEGG pathways for PSENEN Gene
3 GeneGo (Thomson Reuters) pathways for PSENEN Gene
3 R&D Systems pathways for PSENEN Gene
1 Tocris pathway for PSENEN Gene
3 Qiagen pathways for PSENEN Gene
Interacting Proteins for PSENEN Gene
Selected Interacting proteins:
Q9NZ42-PEN2_HUMAN
ENSP00000222266
for PSENEN Gene via
MINT
STRING
UniProtKB
IID
| 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:0016485 | protein processing | IDA | 15274632 |
| GO:0031293 | membrane protein intracellular domain proteolysis | TAS | -- |
Drugs & Compounds for PSENEN Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| E-2012 | Investigational | Pharma | Target | 0 | ||
| MK-0752 | Investigational | Pharma | γ-secretase inhibitor | 0 | ||
| GSI-136 | Investigational | Pharma | 0 | |||
| BMS-708163 (Avagacestat) | Pharma | γ-secretase inhibitor | 0 | |||
| LY2811376 | Pharma | Non-peptidic BACE1 inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| DAPT |
|
208255-80-5 |
|
|
(5) Tocris Compounds for PSENEN Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS 299897 | Potent gamma-secretase inhibitor | 290315-45-6 |
| Compound W | gamma-secretase inhibitor | 173550-33-9 |
| DAPT | gamma-secretase inhibitor | 208255-80-5 |
| JLK 6 | Inhibitor of gamma-secretase-mediated betaAPP processing | 62252-26-0 |
| L-685,458 | Potent and selective gamma-secretase inhibitor | 292632-98-5 |
(9) ApexBio Compounds for PSENEN Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS-708163 (Avagacestat) | γ-secretase inhibitor | 1146699-66-2 |
| LY2811376 | Non-peptidic BACE1 inhibitor | 1194044-20-6 |
| LY-411575 | Gamma secretase inhibitor | 209984-57-6 |
| LY-411575 isomer 1 | 209984-58-7 | |
| LY-411575 isomer 2 | ||
| LY-411575 isomer 3 | ||
| MK-0752 | γ-secretase inhibitor | 471905-41-6 |
| RO4929097 | γ secretase inhibitor | 847925-91-1 |
| YO-01027 (Dibenzazepine, DBZ) | γ-secretase inhibitor | 209984-56-5 |
Transcripts for PSENEN Gene
mRNA/cDNA for PSENEN Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (436) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PSENEN Gene
CRISPR Products
-
OriGene CRISPR knockouts for PSENEN
- genomics-online: gRNA clones - Search results for available PSENEN gene related products
- Applied Biological Materials CRISPR for PSENEN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSENEN
- GenScript: Design CRISPR guide RNA sequences for PSENEN
miRNA Products
- Search ViGene Biosciences for PSENEN
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for PSENEN
- Browse OriGene Inhibitory RNA Products For PSENEN
- genomics-online: shRNA clones - Search results for available PSENEN gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PSENEN gene
Clone Products
- Sino Biological Human cDNA Clone for PSENEN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available PSENEN gene related products
- orf clones - Search results for available PSENEN gene related products
- Applied Biological Materials Clones for PSENEN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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, MaxQB, and MOPED for PSENEN Gene
NURSA nuclear receptor signaling pathways regulating expression of PSENEN Gene:
PSENENSOURCE GeneReport for Unigene cluster for PSENEN Gene:
Hs.534465mRNA 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.
Evidence on tissue expression from TISSUES for PSENEN Gene
- Nervous system(4.7)
- Intestine(2.5)
- Muscle(2.2)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PSENEN Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
Organs:
General:
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for PSENEN
-
OriGene qPCR primer pairs and template standards for PSENEN
- genomics-online: primer clones - Search results for available PSENEN gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PSENEN 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PSENEN 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PSENEN 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Psenen 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Psenen 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | psenen 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | psenen 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | pen-2 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008094 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | pen-2 33 34 |
|
- Species where no ortholog for PSENEN was found in the sources mined by GeneCards:
-
- 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)
Paralogs for PSENEN Gene
Paralogs for PSENEN Gene
Variants for PSENEN Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001123270 | -- | 35,746,666(+) | C/A | intron_variant | |
| rs1001532039 | -- | 35,746,250(+) | C/T | intron_variant | |
| rs1002437820 | -- | 35,746,106(+) | G/A | intron_variant | |
| rs1003120808 | -- | 35,744,197(+) | G/A | upstream_transcript_variant | |
| rs1003447402 | -- | 35,744,976(+) | A/T | upstream_transcript_variant |
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)
Additional Variant Information for PSENEN Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSENEN Gene
Disorders for PSENEN Gene
(12) MalaCards diseases for PSENEN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acne inversa, familial, 2, with or without dowling-degos disease |
|
|
| dowling-degos disease |
|
|
| hidradenitis suppurativa |
|
|
| hidradenitis |
|
|
| anal canal squamous cell carcinoma |
|
|
Search PSENEN in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for PSENEN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PSENEN Gene
Publications for PSENEN Gene
- 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 research 2007) 3 22 44 58
- PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1. (PMID: 12522139) Luo WJ … Xu H (The Journal of biological chemistry 2003) 3 4 22 58
- Membrane topology of gamma-secretase component PEN-2. (PMID: 12639958) Crystal AS … Doms RW (The Journal of biological chemistry 2003) 3 4 22 58
- Reconstitution of gamma-secretase activity. (PMID: 12679784) Edbauer D … Haass C (Nature cell biology 2003) 3 4 22 58
- Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PMID: 12740439) Kimberly WT … Selkoe DJ (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 58
Products for PSENEN Gene
- R&D Systems Antibodies for PSENEN (PSENEN)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for PSENEN
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PSENEN
- Search Origene for MassSpec and Protein Over-expression Lysates for PSENEN
- Origene Custom Protein Services for PSENEN
- Origene shrna and RNAi products in human, mouse, rat for PSENEN
- Browse OriGene Inhibitory RNA Products For PSENEN
- OriGene qPCR primer pairs and template standards for PSENEN
- OriGene qPCR primer pairs for PSENEN
- OriGene CRISPR knockouts for PSENEN
- OriGene ORF clones in human for PSENEN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PSENEN
- GenScript: Next-day shipping of latest version cDNA ORF clones for PSENEN in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PSENEN
- GenScript Custom Assay Services for PSENEN
- GenScript Custom overexpressing Cell Line Services for PSENEN
- GenScript: Design CRISPR guide RNA sequences for PSENEN
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PSENEN
- Cell Signaling Technology (CST) Antibodies for PSENEN (PSENEN)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for PSENEN
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PSENEN
- Novus Biologicals lysates and proteins for PSENEN
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for PSENEN
- Abcam proteins for PSENEN
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PSENEN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for PSENEN
- antibodies-online: Search results for 64 available PSENEN Antibodies ranked by validation data
- Compare Top PSENEN Antibodies
- Recommended
- 45 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 29 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- antibodies-online: Search results for 4 available PSENEN Elisa Kits ranked by validation data
- Compare Top PSENEN Elisa Kits
- antibodies-online: Search results for 4 available PSENEN Proteins ranked by validation data
- Compare Top PSENEN Proteins
- Search GeneTex for Antibodies for PSENEN
- Search GeneTex for Proteins for PSENEN
- ViGene Biosciences adenoviral particle packaged cDNA for PSENEN gene
- ViGene Biosciences lentiviral particle packaged cDNA for PSENEN gene
- ViGene Biosciences ready-to-package AAV shRNAs for PSENEN gene
- Search ViGene Biosciences for PSENEN
- Santa Cruz Biotechnology (SCBT) Antibodies for PSENEN
- Search Santa Cruz Biotechnology (SCBT) for PSENEN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PSENEN
- Horizon Cell Lines for PSENEN
- genomics-online: cdna clones - Search results for available PSENEN gene related products
- orf clones - Search results for available PSENEN gene related products
- genomics-online: gRNA clones - Search results for available PSENEN gene related products
- genomics-online: primer clones - Search results for available PSENEN gene related products
- genomics-online: shRNA clones - Search results for available PSENEN gene related products
Sources for PSENEN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew