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EXOSC2 (exosome component 2)

Identity

Alias_symbol (synonym)hRrp4p
Rrp4p
RRP4
p7
Other alias
HGNC (Hugo) EXOSC2
LocusID (NCBI) 23404
Atlas_Id 62950
Location 9q34.12  [Link to chromosome band 9q34]
Location_base_pair Starts at 130693760 and ends at 130704894 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABL1 (9q34.12) / EXOSC2 (9q34.12)EXOSC2 (9q34.12) / ASS1 (9q34.11)EXOSC2 (9q34.12) / COQ9 (16q21)
EXOSC2 (9q34.12) / EXOSC2 (9q34.12)

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)EXOSC2   17097
Cards
Entrez_Gene (NCBI)EXOSC2  23404  exosome component 2
AliasesRRP4; Rrp4p; hRrp4p; p7
GeneCards (Weizmann)EXOSC2
Ensembl hg19 (Hinxton)ENSG00000130713 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130713 [Gene_View]  chr9:130693760-130704894 [Contig_View]  EXOSC2 [Vega]
ICGC DataPortalENSG00000130713
TCGA cBioPortalEXOSC2
AceView (NCBI)EXOSC2
Genatlas (Paris)EXOSC2
WikiGenes23404
SOURCE (Princeton)EXOSC2
Genetics Home Reference (NIH)EXOSC2
Genomic and cartography
GoldenPath hg38 (UCSC)EXOSC2  -     chr9:130693760-130704894 +  9q34.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EXOSC2  -     9q34.12   [Description]    (hg19-Feb_2009)
EnsemblEXOSC2 - 9q34.12 [CytoView hg19]  EXOSC2 - 9q34.12 [CytoView hg38]
Mapping of homologs : NCBIEXOSC2 [Mapview hg19]  EXOSC2 [Mapview hg38]
OMIM602238   
Gene and transcription
Genbank (Entrez)AK001916 AK022460 AK090512 AK092727 AK296605
RefSeq transcript (Entrez)NM_001282708 NM_001282709 NM_014285
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EXOSC2
Cluster EST : UnigeneHs.654643 [ NCBI ]
CGAP (NCI)Hs.654643
Alternative Splicing GalleryENSG00000130713
Gene ExpressionEXOSC2 [ NCBI-GEO ]   EXOSC2 [ EBI - ARRAY_EXPRESS ]   EXOSC2 [ SEEK ]   EXOSC2 [ MEM ]
Gene Expression Viewer (FireBrowse)EXOSC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23404
GTEX Portal (Tissue expression)EXOSC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13868   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13868  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13868
Splice isoforms : SwissVarQ13868
PhosPhoSitePlusQ13868
Domains : Interpro (EBI)Exosome_cplx_N_dom    Exosome_RNA_bind1/RRP40/RRP4    KH_dom_type_1    NA-bd_OB-fold   
Domain families : Pfam (Sanger)ECR1_N (PF14382)    KH_6 (PF15985)   
Domain families : Pfam (NCBI)pfam14382    pfam15985   
Conserved Domain (NCBI)EXOSC2
DMDM Disease mutations23404
Blocks (Seattle)EXOSC2
PDB (SRS)2NN6   
PDB (PDBSum)2NN6   
PDB (IMB)2NN6   
PDB (RSDB)2NN6   
Structural Biology KnowledgeBase2NN6   
SCOP (Structural Classification of Proteins)2NN6   
CATH (Classification of proteins structures)2NN6   
SuperfamilyQ13868
Human Protein AtlasENSG00000130713
Peptide AtlasQ13868
HPRD03758
IPIIPI00015905   IPI00647528   IPI00645362   IPI00644896   IPI00646511   
Protein Interaction databases
DIP (DOE-UCLA)Q13868
IntAct (EBI)Q13868
FunCoupENSG00000130713
BioGRIDEXOSC2
STRING (EMBL)EXOSC2
ZODIACEXOSC2
Ontologies - Pathways
QuickGOQ13868
Ontology : AmiGO3'-5'-exoribonuclease activity  nuclear exosome (RNase complex)  cytoplasmic exosome (RNase complex)  exosome (RNase complex)  exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  7S RNA binding  positive regulation of cell growth  nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'  U4 snRNA 3'-end processing  regulation of mRNA stability  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  CUT catabolic process  nuclear polyadenylation-dependent rRNA catabolic process  nuclear polyadenylation-dependent tRNA catabolic process  nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription  polyadenylation-dependent snoRNA 3'-end processing  
Ontology : EGO-EBI3'-5'-exoribonuclease activity  nuclear exosome (RNase complex)  cytoplasmic exosome (RNase complex)  exosome (RNase complex)  exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  exoribonuclease activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytosol  rRNA processing  7S RNA binding  positive regulation of cell growth  nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'  U4 snRNA 3'-end processing  regulation of mRNA stability  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay  CUT catabolic process  nuclear polyadenylation-dependent rRNA catabolic process  nuclear polyadenylation-dependent tRNA catabolic process  nuclear retention of pre-mRNA with aberrant 3'-ends at the site of transcription  polyadenylation-dependent snoRNA 3'-end processing  
Pathways : KEGGRNA degradation   
NDEx NetworkEXOSC2
Atlas of Cancer Signalling NetworkEXOSC2
Wikipedia pathwaysEXOSC2
Orthology - Evolution
OrthoDB23404
GeneTree (enSembl)ENSG00000130713
Phylogenetic Trees/Animal Genes : TreeFamEXOSC2
HOVERGENQ13868
HOGENOMQ13868
Homologs : HomoloGeneEXOSC2
Homology/Alignments : Family Browser (UCSC)EXOSC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEXOSC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EXOSC2
dbVarEXOSC2
ClinVarEXOSC2
1000_GenomesEXOSC2 
Exome Variant ServerEXOSC2
ExAC (Exome Aggregation Consortium)EXOSC2 (select the gene name)
Genetic variants : HAPMAP23404
Genomic Variants (DGV)EXOSC2 [DGVbeta]
DECIPHEREXOSC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEXOSC2 
Mutations
ICGC Data PortalEXOSC2 
TCGA Data PortalEXOSC2 
Broad Tumor PortalEXOSC2
OASIS PortalEXOSC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEXOSC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEXOSC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EXOSC2
DgiDB (Drug Gene Interaction Database)EXOSC2
DoCM (Curated mutations)EXOSC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EXOSC2 (select a term)
intoGenEXOSC2
Cancer3DEXOSC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602238   
Orphanet
MedgenEXOSC2
Genetic Testing Registry EXOSC2
NextProtQ13868 [Medical]
TSGene23404
GENETestsEXOSC2
Target ValidationEXOSC2
Huge Navigator EXOSC2 [HugePedia]
snp3D : Map Gene to Disease23404
BioCentury BCIQEXOSC2
ClinGenEXOSC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23404
Chemical/Pharm GKB GenePA134876020
Clinical trialEXOSC2
Miscellaneous
canSAR (ICR)EXOSC2 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEXOSC2
EVEXEXOSC2
GoPubMedEXOSC2
iHOPEXOSC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:47:34 CEST 2017

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