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PSMD2 (proteasome 26S subunit, non-ATPase 2)

Identity

Alias_namesproteasome (prosome
Alias_symbol (synonym)S2
P97
TRAP2
MGC14274
Rpn1
Other aliasRPN1
HGNC (Hugo) PSMD2
LocusID (NCBI) 5708
Atlas_Id 41889
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 184300581 and ends at 184309054 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DHFR (5q14.1) / PSMD2 (3q27.1)DST (6p12.1) / PSMD2 (3q27.1)MECOM (3q26.2) / PSMD2 (3q27.1)
PSMD2 (3q27.1) / ECE2 (3q27.1)PSMD2 (3q27.1) / HDAC10 (22q13.33)PSMD2 (3q27.1) / INPP1 (2q32.2)
PSMD2 (3q27.1) / MECOM (3q26.2)PSMD2 (3q27.1) / PRDM16 (1p36.32)PSMD2 (3q27.1) / PSMD2 (3q27.1)
PSMD2 (3q27.1) / TTC39C (18q11.2)PSMD2 (3q27.1) / YBX2 (17p13.1)SERPINA1 (14q32.13) / PSMD2 (3q27.1)
SYS1 (20q13.12) / PSMD2 (3q27.1)PSMD2 3q27.1 / ECE2 3q27.1

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;3)(p36;q21) RPN1/PRDM16


External links

Nomenclature
HGNC (Hugo)PSMD2   9559
Cards
Entrez_Gene (NCBI)PSMD2  5708  proteasome 26S subunit, non-ATPase 2
AliasesP97; RPN1; S2; TRAP2
GeneCards (Weizmann)PSMD2
Ensembl hg19 (Hinxton)ENSG00000175166 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175166 [Gene_View]  chr3:184300581-184309054 [Contig_View]  PSMD2 [Vega]
ICGC DataPortalENSG00000175166
TCGA cBioPortalPSMD2
AceView (NCBI)PSMD2
Genatlas (Paris)PSMD2
WikiGenes5708
SOURCE (Princeton)PSMD2
Genetics Home Reference (NIH)PSMD2
Genomic and cartography
GoldenPath hg38 (UCSC)PSMD2  -     chr3:184300581-184309054 +  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSMD2  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblPSMD2 - 3q27.1 [CytoView hg19]  PSMD2 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIPSMD2 [Mapview hg19]  PSMD2 [Mapview hg38]
OMIM606223   
Gene and transcription
Genbank (Entrez)AB209843 AI026024 AK095245 AK297256 AK301759
RefSeq transcript (Entrez)NM_001278708 NM_001278709 NM_002808
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSMD2
Cluster EST : UnigeneHs.518464 [ NCBI ]
CGAP (NCI)Hs.518464
Alternative Splicing GalleryENSG00000175166
Gene ExpressionPSMD2 [ NCBI-GEO ]   PSMD2 [ EBI - ARRAY_EXPRESS ]   PSMD2 [ SEEK ]   PSMD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PSMD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5708
GTEX Portal (Tissue expression)PSMD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13200   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13200  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13200
Splice isoforms : SwissVarQ13200
PhosPhoSitePlusQ13200
Domains : Interpro (EBI)26S_Psome_Rpn1    ARM-like    ARM-type_fold    Proteasome/cyclosome_rpt   
Domain families : Pfam (Sanger)PC_rep (PF01851)   
Domain families : Pfam (NCBI)pfam01851   
Conserved Domain (NCBI)PSMD2
DMDM Disease mutations5708
Blocks (Seattle)PSMD2
PDB (SRS)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
PDB (PDBSum)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
PDB (IMB)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
PDB (RSDB)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
Structural Biology KnowledgeBase5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
SCOP (Structural Classification of Proteins)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
CATH (Classification of proteins structures)5GJQ    5GJR    5L4K    5T0C    5T0G    5T0H    5T0I    5T0J   
SuperfamilyQ13200
Human Protein AtlasENSG00000175166
Peptide AtlasQ13200
HPRD05870
IPIIPI00012268   IPI01014808   IPI00384420   IPI00926410   IPI00926258   IPI00795529   IPI00925813   IPI00925595   IPI00925437   
Protein Interaction databases
DIP (DOE-UCLA)Q13200
IntAct (EBI)Q13200
FunCoupENSG00000175166
BioGRIDPSMD2
STRING (EMBL)PSMD2
ZODIACPSMD2
Ontologies - Pathways
QuickGOQ13200
Ontology : AmiGOMAPK cascade  protein polyubiquitination  proteasome complex  stimulatory C-type lectin receptor signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  extracellular region  nucleoplasm  cytosol  proteasome regulatory particle  regulation of cellular amino acid metabolic process  negative regulation of G2/M transition of mitotic cell cycle  membrane  protein deubiquitination  proteasome accessory complex  enzyme regulator activity  anaphase-promoting complex-dependent catabolic process  SCF-dependent proteasomal ubiquitin-dependent protein catabolic process  tumor necrosis factor-mediated signaling pathway  secretory granule lumen  NIK/NF-kappaB signaling  Fc-epsilon receptor signaling pathway  proteasome-mediated ubiquitin-dependent protein catabolic process  neutrophil degranulation  regulation of mRNA stability  T cell receptor signaling pathway  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  transmembrane transport  Wnt signaling pathway, planar cell polarity pathway  regulation of transcription from RNA polymerase II promoter in response to hypoxia  extracellular exosome  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  ficolin-1-rich granule lumen  
Ontology : EGO-EBIMAPK cascade  protein polyubiquitination  proteasome complex  stimulatory C-type lectin receptor signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  extracellular region  nucleoplasm  cytosol  proteasome regulatory particle  regulation of cellular amino acid metabolic process  negative regulation of G2/M transition of mitotic cell cycle  membrane  protein deubiquitination  proteasome accessory complex  enzyme regulator activity  anaphase-promoting complex-dependent catabolic process  SCF-dependent proteasomal ubiquitin-dependent protein catabolic process  tumor necrosis factor-mediated signaling pathway  secretory granule lumen  NIK/NF-kappaB signaling  Fc-epsilon receptor signaling pathway  proteasome-mediated ubiquitin-dependent protein catabolic process  neutrophil degranulation  regulation of mRNA stability  T cell receptor signaling pathway  negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle  positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition  transmembrane transport  Wnt signaling pathway, planar cell polarity pathway  regulation of transcription from RNA polymerase II promoter in response to hypoxia  extracellular exosome  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  ficolin-1-rich granule lumen  
Pathways : KEGGProteasome    Epstein-Barr virus infection   
NDEx NetworkPSMD2
Atlas of Cancer Signalling NetworkPSMD2
Wikipedia pathwaysPSMD2
Orthology - Evolution
OrthoDB5708
GeneTree (enSembl)ENSG00000175166
Phylogenetic Trees/Animal Genes : TreeFamPSMD2
HOVERGENQ13200
HOGENOMQ13200
Homologs : HomoloGenePSMD2
Homology/Alignments : Family Browser (UCSC)PSMD2
Gene fusions - Rearrangements
Fusion : MitelmanPSMD2/ECE2 [3q27.1/3q27.1]  
Fusion: TCGAPSMD2 3q27.1 ECE2 3q27.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSMD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSMD2
dbVarPSMD2
ClinVarPSMD2
1000_GenomesPSMD2 
Exome Variant ServerPSMD2
ExAC (Exome Aggregation Consortium)PSMD2 (select the gene name)
Genetic variants : HAPMAP5708
Genomic Variants (DGV)PSMD2 [DGVbeta]
DECIPHERPSMD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSMD2 
Mutations
ICGC Data PortalPSMD2 
TCGA Data PortalPSMD2 
Broad Tumor PortalPSMD2
OASIS PortalPSMD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSMD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPSMD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PSMD2
DgiDB (Drug Gene Interaction Database)PSMD2
DoCM (Curated mutations)PSMD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSMD2 (select a term)
intoGenPSMD2
Cancer3DPSMD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606223   
Orphanet
MedgenPSMD2
Genetic Testing Registry PSMD2
NextProtQ13200 [Medical]
TSGene5708
GENETestsPSMD2
Target ValidationPSMD2
Huge Navigator PSMD2 [HugePedia]
snp3D : Map Gene to Disease5708
BioCentury BCIQPSMD2
ClinGenPSMD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5708
Chemical/Pharm GKB GenePA33905
Clinical trialPSMD2
Miscellaneous
canSAR (ICR)PSMD2 (select the gene name)
Probes
Litterature
PubMed149 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSMD2
EVEXPSMD2
GoPubMedPSMD2
iHOPPSMD2
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 1 17:11:57 CEST 2017

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