Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PSENEN (presenilin enhancer gamma secretase subunit)

Identity

Other namesMDS033
MSTP064
PEN-2
PEN2
HGNC (Hugo) PSENEN
LocusID (NCBI) 55851
Atlas_Id 46841
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 36236478 and ends at 36238056 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PSENEN (19q13.12) / NDRG1 (8q24.22)PSENEN (19q13.12) / PDLIM7 (5q35.3)PSENEN (19q13.12) / SLC38A3 (3p21.31)

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
AliasesMDS033; MSTP064; PEN-2; PEN2
GeneCards (Weizmann)PSENEN
Ensembl hg19 (Hinxton)ENSG00000205155 [Gene_View]  chr19:36236478-36238056 [Contig_View]  PSENEN [Vega]
Ensembl hg38 (Hinxton)ENSG00000205155 [Gene_View]  chr19:36236478-36238056 [Contig_View]  PSENEN [Vega]
ICGC DataPortalENSG00000205155
TCGA 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)NC_000019 NC_018930 NG_027934 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)PSENEN
Cluster EST : UnigeneHs.534465 [ NCBI ]
CGAP (NCI)Hs.534465
Alternative Splicing GalleryENSG00000205155
Gene ExpressionPSENEN [ NCBI-GEO ]   PSENEN [ EBI - ARRAY_EXPRESS ]   PSENEN [ SEEK ]   PSENEN [ MEM ]
Gene Expression Viewer (FireBrowse)PSENEN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55851
GTEX Portal (Tissue expression)PSENEN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZ42 (Uniprot)
NextProtQ9NZ42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZ42
Splice isoforms : SwissVarQ9NZ42 (Swissvar)
PhosPhoSitePlusQ9NZ42
Domains : Interpro (EBI)Gamma_Secretase_Asp_P_PEN2   
Domain families : Pfam (Sanger)PEN-2 (PF10251)   
Domain families : Pfam (NCBI)pfam10251   
DMDM Disease mutations55851
Blocks (Seattle)PSENEN
PDB (SRS)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (PDBSum)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (IMB)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (RSDB)5A63    5FN2    5FN3    5FN4    5FN5   
Structural Biology KnowledgeBase5A63    5FN2    5FN3    5FN4    5FN5   
SCOP (Structural Classification of Proteins)5A63    5FN2    5FN3    5FN4    5FN5   
CATH (Classification of proteins structures)5A63    5FN2    5FN3    5FN4    5FN5   
SuperfamilyQ9NZ42
Human Protein AtlasENSG00000205155
Peptide AtlasQ9NZ42
HPRD06362
IPIIPI00020516   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZ42
IntAct (EBI)Q9NZ42
FunCoupENSG00000205155
BioGRIDPSENEN
STRING (EMBL)PSENEN
ZODIACPSENEN
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  ephrin receptor signaling pathway  gamma-secretase complex  
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  ephrin receptor signaling pathway  gamma-secretase complex  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
NDEx Network
Atlas of Cancer Signalling NetworkPSENEN
Wikipedia pathwaysPSENEN
Orthology - Evolution
OrthoDB55851
GeneTree (enSembl)ENSG00000205155
Phylogenetic Trees/Animal Genes : TreeFamPSENEN
Homologs : HomoloGenePSENEN
Homology/Alignments : Family Browser (UCSC)PSENEN
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPSENEN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSENEN
dbVarPSENEN
ClinVarPSENEN
1000_GenomesPSENEN 
Exome Variant ServerPSENEN
ExAC (Exome Aggregation Consortium)PSENEN (select the gene name)
Genetic variants : HAPMAP55851
Genomic Variants (DGV)PSENEN [DGVbeta]
Mutations
ICGC Data PortalPSENEN 
TCGA Data PortalPSENEN 
Broad Tumor PortalPSENEN
OASIS PortalPSENEN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSENEN 
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
BioMutasearch PSENEN
DgiDB (Drug Gene Interaction Database)PSENEN
DoCM (Curated mutations)PSENEN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSENEN (select a term)
intoGenPSENEN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:36236478-36238056  ENSG00000205155
CONAN: Copy Number AnalysisPSENEN 
Mutations and Diseases : HGMDPSENEN
OMIM607632    613736   
MedgenPSENEN
Genetic Testing Registry PSENEN
NextProtQ9NZ42 [Medical]
TSGene55851
GENETestsPSENEN
Huge Navigator PSENEN [HugePedia]
snp3D : Map Gene to Disease55851
BioCentury BCIQPSENEN
ClinGenPSENEN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55851
Chemical/Pharm GKB GenePA142671122
Clinical trialPSENEN
Miscellaneous
canSAR (ICR)PSENEN (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSENEN
EVEXPSENEN
GoPubMedPSENEN
iHOPPSENEN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:24:40 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.