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PSENEN (presenilin enhancer gamma secretase subunit)

Identity

Other namesMSTP064
PEN-2
PEN2
HGNC (Hugo) PSENEN
LocusID (NCBI) 55851
Location 19q13.12
Location_base_pair Starts at 36236478 and ends at 36238056 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PSENEN   30100
Cards
Entrez_Gene (NCBI)PSENEN  55851  presenilin enhancer gamma secretase subunit
GeneCards (Weizmann)PSENEN
Ensembl hg19 (Hinxton) [Gene_View]  chr19:36236478-36238056 [Contig_View]  PSENEN [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr19:36236478-36238056 [Contig_View]  PSENEN [Vega]
cBioPortalPSENEN
AceView (NCBI)PSENEN
Genatlas (Paris)PSENEN
WikiGenes55851
SOURCE (Princeton)PSENEN
Genomic and cartography
GoldenPath hg19 (UCSC)PSENEN  -     chr19:36236478-36238056 +  19q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PSENEN  -     19q13.12   [Description]    (hg38-Dec_2013)
EnsemblPSENEN - 19q13.12 [CytoView hg19]  PSENEN - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBIPSENEN [Mapview hg19]  PSENEN [Mapview hg38]
OMIM607632   613736   
Gene and transcription
Genbank (Entrez)AF220053 AK312233 BC009575 BE563017 BQ222622
RefSeq transcript (Entrez)NM_001281532 NM_172341
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_027934 NT_011109 NW_001838494 NW_004929415
Consensus coding sequences : CCDS (NCBI)PSENEN
Cluster EST : UnigeneHs.534465 [ NCBI ]
CGAP (NCI)Hs.534465
Alternative Splicing : Fast-db (Paris)GSHG0014842
Gene ExpressionPSENEN [ NCBI-GEO ]     PSENEN [ SEEK ]   PSENEN [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZ42 (Uniprot)
NextProtQ9NZ42  [Medical]
With graphics : InterProQ9NZ42
Splice isoforms : SwissVarQ9NZ42 (Swissvar)
Domains : Interpro (EBI)Gamma_Secretase_Asp_P_PEN2   
Related proteins : CluSTrQ9NZ42
Domain families : Pfam (Sanger)PEN-2 (PF10251)   
Domain families : Pfam (NCBI)pfam10251   
DMDM Disease mutations55851
Blocks (Seattle)Q9NZ42
Peptide AtlasQ9NZ42
HPRD06362
IPIIPI00020516   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZ42
IntAct (EBI)Q9NZ42
BioGRIDPSENEN
IntegromeDBPSENEN
STRING (EMBL)PSENEN
Ontologies - Pathways
QuickGOQ9NZ42
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  protein processing  membrane protein intracellular domain proteolysis  Golgi cisterna membrane  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  neurotrophin TRK receptor signaling pathway  apoptotic signaling pathway  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch receptor processing  protein processing  membrane protein intracellular domain proteolysis  Golgi cisterna membrane  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  neurotrophin TRK receptor signaling pathway  apoptotic signaling pathway  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
Protein Interaction DatabasePSENEN
DoCM (Curated mutations)PSENEN
Wikipedia pathwaysPSENEN
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPSENEN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSENEN
dbVarPSENEN
ClinVarPSENEN
1000_GenomesPSENEN 
Exome Variant ServerPSENEN
SNP (GeneSNP Utah)PSENEN
SNP : HGBasePSENEN
Genetic variants : HAPMAPPSENEN
Genomic VariantsPSENEN  PSENEN [DGVbeta]
Mutations
Somatic Mutations in Cancer : COSMICPSENEN 
CONAN: Copy Number AnalysisPSENEN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:36236478-36238056
Mutations and Diseases : HGMDPSENEN
OMIM607632    613736   
MedgenPSENEN
NextProtQ9NZ42 [Medical]
GENETestsPSENEN
Disease Genetic AssociationPSENEN
Huge Navigator PSENEN [HugePedia]  PSENEN [HugeCancerGEM]
snp3D : Map Gene to Disease55851
DGIdb (Drug Gene Interaction db)PSENEN
General knowledge
Homologs : HomoloGenePSENEN
Homology/Alignments : Family Browser (UCSC)PSENEN
Phylogenetic Trees/Animal Genes : TreeFamPSENEN
Chemical/Protein Interactions : CTD55851
Chemical/Pharm GKB GenePA142671122
Clinical trialPSENEN
Other databases
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
CoreMinePSENEN
GoPubMedPSENEN
iHOPPSENEN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:01:04 CET 2014

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