Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UBE2A (ubiquitin conjugating enzyme E2 A)

Identity

Alias_namesubiquitin-conjugating enzyme E2A (RAD6 homolog)
ubiquitin-conjugating enzyme E2A
Alias_symbol (synonym)UBC2
HHR6A
RAD6A
Other aliasMRXS30
MRXSN
HGNC (Hugo) UBE2A
LocusID (NCBI) 7319
Atlas_Id 42746
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at 119574467 and ends at 119584429 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)
NKRF (Xq24) / UBE2A (Xq24)UBE2A (Xq24) / DGUOK (2p13.1)ZNF593 (1p36.11) / UBE2A (Xq24)
NKRF Xq24 / UBE2A Xq24

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)UBE2A   12472
Cards
Entrez_Gene (NCBI)UBE2A  7319  ubiquitin conjugating enzyme E2 A
AliasesHHR6A; MRXS30; MRXSN; RAD6A; 
UBC2
GeneCards (Weizmann)UBE2A
Ensembl hg19 (Hinxton)ENSG00000077721 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077721 [Gene_View]  ENSG00000077721 [Sequence]  chrX:119574467-119584429 [Contig_View]  UBE2A [Vega]
ICGC DataPortalENSG00000077721
TCGA cBioPortalUBE2A
AceView (NCBI)UBE2A
Genatlas (Paris)UBE2A
WikiGenes7319
SOURCE (Princeton)UBE2A
Genetics Home Reference (NIH)UBE2A
Genomic and cartography
GoldenPath hg38 (UCSC)UBE2A  -     chrX:119574467-119584429 +  Xq24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBE2A  -     Xq24   [Description]    (hg19-Feb_2009)
GoldenPathUBE2A - Xq24 [CytoView hg19]  UBE2A - Xq24 [CytoView hg38]
ImmunoBaseENSG00000077721
Mapping of homologs : NCBIUBE2A [Mapview hg19]  UBE2A [Mapview hg38]
OMIM300860   312180   
Gene and transcription
Genbank (Entrez)AI784380 AK223045 AK223064 AK297696 AK301675
RefSeq transcript (Entrez)NM_001282161 NM_003336 NM_181762 NM_181777
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBE2A
Cluster EST : UnigeneHs.379466 [ NCBI ]
CGAP (NCI)Hs.379466
Alternative Splicing GalleryENSG00000077721
Gene ExpressionUBE2A [ NCBI-GEO ]   UBE2A [ EBI - ARRAY_EXPRESS ]   UBE2A [ SEEK ]   UBE2A [ MEM ]
Gene Expression Viewer (FireBrowse)UBE2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7319
GTEX Portal (Tissue expression)UBE2A
Human Protein AtlasENSG00000077721-UBE2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49459   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49459  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49459
Splice isoforms : SwissVarP49459
PhosPhoSitePlusP49459
Domaine pattern : Prosite (Expaxy)UBIQUITIN_CONJUGAT_1 (PS00183)    UBIQUITIN_CONJUGAT_2 (PS50127)   
Domains : Interpro (EBI)UBQ-conjugat_E2    UBQ-conjugating_AS    UBQ-conjugating_enzyme/RWD   
Domain families : Pfam (Sanger)UQ_con (PF00179)   
Domain families : Pfam (NCBI)pfam00179   
Conserved Domain (NCBI)UBE2A
DMDM Disease mutations7319
Blocks (Seattle)UBE2A
SuperfamilyP49459
Human Protein Atlas [tissue]ENSG00000077721-UBE2A [tissue]
Peptide AtlasP49459
HPRD02422
IPIIPI00746451   IPI00375549   IPI00843825   
Protein Interaction databases
DIP (DOE-UCLA)P49459
IntAct (EBI)P49459
FunCoupENSG00000077721
BioGRIDUBE2A
STRING (EMBL)UBE2A
ZODIACUBE2A
Ontologies - Pathways
QuickGOP49459
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  chromatin  nuclear chromatin  XY body  blastocyst hatching  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  cytosol  DNA repair  DNA repair  postreplication repair  ubiquitin-dependent protein catabolic process  positive regulation of cell proliferation  response to UV  protein ubiquitination  ubiquitin protein ligase binding  HULC complex  HULC complex  histone H2A ubiquitination  proteasome-mediated ubiquitin-dependent protein catabolic process  protein autoubiquitination  maternal process involved in female pregnancy  ubiquitin conjugating enzyme activity  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  protein K11-linked ubiquitination  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  chromatin  nuclear chromatin  XY body  blastocyst hatching  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleoplasm  cytosol  DNA repair  DNA repair  postreplication repair  ubiquitin-dependent protein catabolic process  positive regulation of cell proliferation  response to UV  protein ubiquitination  ubiquitin protein ligase binding  HULC complex  HULC complex  histone H2A ubiquitination  proteasome-mediated ubiquitin-dependent protein catabolic process  protein autoubiquitination  maternal process involved in female pregnancy  ubiquitin conjugating enzyme activity  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  protein K11-linked ubiquitination  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBE2A
Atlas of Cancer Signalling NetworkUBE2A
Wikipedia pathwaysUBE2A
Orthology - Evolution
OrthoDB7319
GeneTree (enSembl)ENSG00000077721
Phylogenetic Trees/Animal Genes : TreeFamUBE2A
HOGENOMP49459
Homologs : HomoloGeneUBE2A
Homology/Alignments : Family Browser (UCSC)UBE2A
Gene fusions - Rearrangements
Fusion PortalNKRF Xq24 UBE2A Xq24 BRCA
Fusion : QuiverUBE2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBE2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBE2A
dbVarUBE2A
ClinVarUBE2A
1000_GenomesUBE2A 
Exome Variant ServerUBE2A
ExAC (Exome Aggregation Consortium)ENSG00000077721
GNOMAD BrowserENSG00000077721
Varsome BrowserUBE2A
Genetic variants : HAPMAP7319
Genomic Variants (DGV)UBE2A [DGVbeta]
DECIPHERUBE2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBE2A 
Mutations
ICGC Data PortalUBE2A 
TCGA Data PortalUBE2A 
Broad Tumor PortalUBE2A
OASIS PortalUBE2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBE2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBE2A
Mutations and Diseases : HGMDUBE2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UBE2A
DgiDB (Drug Gene Interaction Database)UBE2A
DoCM (Curated mutations)UBE2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBE2A (select a term)
intoGenUBE2A
Cancer3DUBE2A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300860    312180   
Orphanet17554   
DisGeNETUBE2A
MedgenUBE2A
Genetic Testing Registry UBE2A
NextProtP49459 [Medical]
TSGene7319
GENETestsUBE2A
Target ValidationUBE2A
Huge Navigator UBE2A [HugePedia]
snp3D : Map Gene to Disease7319
BioCentury BCIQUBE2A
ClinGenUBE2A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7319
Chemical/Pharm GKB GenePA37122
Clinical trialUBE2A
Miscellaneous
canSAR (ICR)UBE2A (select the gene name)
DataMed IndexUBE2A
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBE2A
EVEXUBE2A
GoPubMedUBE2A
iHOPUBE2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:13:54 CET 2019
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