Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UBR2 (ubiquitin protein ligase E3 component n-recognin 2)

Identity

Alias_namesC6orf133
chromosome 6 open reading frame 133
Alias_symbol (synonym)bA49A4.1
dJ392M17.3
KIAA0349
Other aliasdJ242G1.1
HGNC (Hugo) UBR2
LocusID (NCBI) 23304
Atlas_Id 54747
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 42564022 and ends at 42693505 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EXOC4 (7q33) / UBR2 (6p21.1)GLTSCR1L (6p21.1) / UBR2 (6p21.1)PDS5B (13q13.1) / UBR2 (6p21.1)
PPP2R5D (6p21.1) / UBR2 (6p21.1)RPS27L (15q22.2) / UBR2 (6p21.1)UBR2 (6p21.1) / ARL15 (5q11.2)
UBR2 (6p21.1) / C9orf64 (9q21.32)UBR2 (6p21.1) / MECOM (3q26.2)UBR2 (6p21.1) / SRPK1 (6p21.31)
UBR2 (6p21.1) / XPO5 (6p21.1)KIAA0240 UBR2 6p21.1PDS5B 13q13.1 / UBR2 6p21.1
PPP2R5D 6p21.1 / UBR2 6p21.1UBR2 6p21.1 / XPO5 6p21.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  PPP2R5D/UBR2 (6p21)
UBR2/PXT1 (6p21)
UBR2/SRPK1 (6p21)
UBR2/XPO5 (6p21)
t(6;13)(p21;q13) PDS5B/UBR2

External links

Nomenclature
HGNC (Hugo)UBR2   21289
Cards
Entrez_Gene (NCBI)UBR2  23304  ubiquitin protein ligase E3 component n-recognin 2
AliasesC6orf133; bA49A4.1; dJ242G1.1; dJ392M17.3
GeneCards (Weizmann)UBR2
Ensembl hg19 (Hinxton)ENSG00000024048 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000024048 [Gene_View]  ENSG00000024048 [Sequence]  chr6:42564022-42693505 [Contig_View]  UBR2 [Vega]
ICGC DataPortalENSG00000024048
TCGA cBioPortalUBR2
AceView (NCBI)UBR2
Genatlas (Paris)UBR2
WikiGenes23304
SOURCE (Princeton)UBR2
Genetics Home Reference (NIH)UBR2
Genomic and cartography
GoldenPath hg38 (UCSC)UBR2  -     chr6:42564022-42693505 +  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBR2  -     6p21.1   [Description]    (hg19-Feb_2009)
GoldenPathUBR2 - 6p21.1 [CytoView hg19]  UBR2 - 6p21.1 [CytoView hg38]
ImmunoBaseENSG00000024048
Mapping of homologs : NCBIUBR2 [Mapview hg19]  UBR2 [Mapview hg38]
OMIM609134   
Gene and transcription
Genbank (Entrez)AB002347 AK026998 AK090874 AK093676 AK125795
RefSeq transcript (Entrez)NM_001184801 NM_001363705 NM_015255
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBR2
Cluster EST : UnigeneHs.529925 [ NCBI ]
CGAP (NCI)Hs.529925
Alternative Splicing GalleryENSG00000024048
Gene ExpressionUBR2 [ NCBI-GEO ]   UBR2 [ EBI - ARRAY_EXPRESS ]   UBR2 [ SEEK ]   UBR2 [ MEM ]
Gene Expression Viewer (FireBrowse)UBR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23304
GTEX Portal (Tissue expression)UBR2
Human Protein AtlasENSG00000024048-UBR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWV8
Splice isoforms : SwissVarQ8IWV8
PhosPhoSitePlusQ8IWV8
Domaine pattern : Prosite (Expaxy)ZF_UBR (PS51157)   
Domains : Interpro (EBI)ClpS_core    Ribosomal_L7/12_C/ClpS-like    WH_DNA-bd_sf    Znf_UBR   
Domain families : Pfam (Sanger)ClpS (PF02617)    zf-UBR (PF02207)   
Domain families : Pfam (NCBI)pfam02617    pfam02207   
Domain families : Smart (EMBL)ZnF_UBR1 (SM00396)  
Conserved Domain (NCBI)UBR2
DMDM Disease mutations23304
Blocks (Seattle)UBR2
PDB (RSDB)3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
PDB Europe3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
PDB (PDBSum)3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
PDB (IMB)3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
Structural Biology KnowledgeBase3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
SCOP (Structural Classification of Proteins)3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
CATH (Classification of proteins structures)3NY2    3NY3    5TDA    5TDB    5TDD    5UM3   
SuperfamilyQ8IWV8
Human Protein Atlas [tissue]ENSG00000024048-UBR2 [tissue]
Peptide AtlasQ8IWV8
HPRD09853
IPIIPI00640085   IPI00640329   IPI00445539   IPI00217407   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWV8
IntAct (EBI)Q8IWV8
FunCoupENSG00000024048
BioGRIDUBR2
STRING (EMBL)UBR2
ZODIACUBR2
Ontologies - Pathways
QuickGOQ8IWV8
Ontology : AmiGOubiquitin ligase complex  protein polyubiquitination  chromatin  protein binding  nucleus  cytoplasm  cytosol  chromatin silencing  chromatin silencing  reciprocal meiotic recombination  male meiotic nuclear division  male meiosis I  spermatogenesis  zinc ion binding  negative regulation of transposition  protein ubiquitination  negative regulation of TOR signaling  histone H2A ubiquitination  histone H2A ubiquitination  ubiquitin protein ligase activity  leucine binding  cellular response to leucine  ubiquitin-dependent protein catabolic process via the N-end rule pathway  
Ontology : EGO-EBIubiquitin ligase complex  protein polyubiquitination  chromatin  protein binding  nucleus  cytoplasm  cytosol  chromatin silencing  chromatin silencing  reciprocal meiotic recombination  male meiotic nuclear division  male meiosis I  spermatogenesis  zinc ion binding  negative regulation of transposition  protein ubiquitination  negative regulation of TOR signaling  histone H2A ubiquitination  histone H2A ubiquitination  ubiquitin protein ligase activity  leucine binding  cellular response to leucine  ubiquitin-dependent protein catabolic process via the N-end rule pathway  
NDEx NetworkUBR2
Atlas of Cancer Signalling NetworkUBR2
Wikipedia pathwaysUBR2
Orthology - Evolution
OrthoDB23304
GeneTree (enSembl)ENSG00000024048
Phylogenetic Trees/Animal Genes : TreeFamUBR2
HOGENOMQ8IWV8
Homologs : HomoloGeneUBR2
Homology/Alignments : Family Browser (UCSC)UBR2
Gene fusions - Rearrangements
Fusion : MitelmanGLTSCR1L/UBR2 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion : MitelmanPDS5B/UBR2 [13q13.1/6p21.1]  [t(6;13)(p21;q13)]  
Fusion : MitelmanPPP2R5D/UBR2 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion : MitelmanUBR2/SRPK1 [6p21.1/6p21.31]  [t(6;6)(p21;p21)]  
Fusion : MitelmanUBR2/XPO5 [6p21.1/6p21.1]  [t(6;6)(p21;p21)]  
Fusion PortalKIAA0240 UBR2 6p21.1 BRCA
Fusion PortalPDS5B 13q13.1 UBR2 6p21.1 BRCA
Fusion PortalPPP2R5D 6p21.1 UBR2 6p21.1 BLCA
Fusion PortalUBR2 6p21.1 XPO5 6p21.1 PRAD
Fusion : QuiverUBR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBR2
dbVarUBR2
ClinVarUBR2
1000_GenomesUBR2 
Exome Variant ServerUBR2
ExAC (Exome Aggregation Consortium)ENSG00000024048
GNOMAD BrowserENSG00000024048
Varsome BrowserUBR2
Genetic variants : HAPMAP23304
Genomic Variants (DGV)UBR2 [DGVbeta]
DECIPHERUBR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBR2 
Mutations
ICGC Data PortalUBR2 
TCGA Data PortalUBR2 
Broad Tumor PortalUBR2
OASIS PortalUBR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBR2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBR2
Mutations and Diseases : HGMDUBR2
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 UBR2
DgiDB (Drug Gene Interaction Database)UBR2
DoCM (Curated mutations)UBR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBR2 (select a term)
intoGenUBR2
Cancer3DUBR2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609134   
Orphanet
DisGeNETUBR2
MedgenUBR2
Genetic Testing Registry UBR2
NextProtQ8IWV8 [Medical]
TSGene23304
GENETestsUBR2
Target ValidationUBR2
Huge Navigator UBR2 [HugePedia]
snp3D : Map Gene to Disease23304
BioCentury BCIQUBR2
ClinGenUBR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23304
Chemical/Pharm GKB GenePA128394621
Clinical trialUBR2
Miscellaneous
canSAR (ICR)UBR2 (select the gene name)
DataMed IndexUBR2
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBR2
EVEXUBR2
GoPubMedUBR2
iHOPUBR2
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 Nov 13 18:14:05 CET 2019
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