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UBE2H (ubiquitin conjugating enzyme E2 H)

Identity

Alias_namesUBC8 homolog (S. cerevisiae)
Alias_symbol (synonym)UBCH
UBC8
GID3
Other aliasE2-20K
UBCH2
HGNC (Hugo) UBE2H
LocusID (NCBI) 7328
Atlas_Id 47471
Location 7q32.2  [Link to chromosome band 7q32]
Location_base_pair Starts at 129470573 and ends at 129592783 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GABBR2 (9q22.33) / UBE2H (7q32.2)NAMPT (7q22.3) / UBE2H (7q32.2)NOTCH2NL (1q21.1) / UBE2H (7q32.2)
PTK2 (8q24.3) / UBE2H (7q32.2)UBE2H (7q32.2) / CFH (1q31.3)UBE2H (7q32.2) / PON1 (7q21.3)
UBE2H (7q32.2) / RBFOX1 (16p13.3)UBE2H (7q32.2) / UBE2H (7q32.2)NOTCH2NL 1q21.1 / UBE2H 7q32.2
PTK2 8q24.3 / UBE2H 7q32.2

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)UBE2H   12484
Cards
Entrez_Gene (NCBI)UBE2H  7328  ubiquitin conjugating enzyme E2 H
AliasesE2-20K; GID3; UBC8; UBCH; 
UBCH2
GeneCards (Weizmann)UBE2H
Ensembl hg19 (Hinxton)ENSG00000186591 [Gene_View]  chr7:129470573-129592783 [Contig_View]  UBE2H [Vega]
Ensembl hg38 (Hinxton)ENSG00000186591 [Gene_View]  chr7:129470573-129592783 [Contig_View]  UBE2H [Vega]
ICGC DataPortalENSG00000186591
TCGA cBioPortalUBE2H
AceView (NCBI)UBE2H
Genatlas (Paris)UBE2H
WikiGenes7328
SOURCE (Princeton)UBE2H
Genetics Home Reference (NIH)UBE2H
Genomic and cartography
GoldenPath hg19 (UCSC)UBE2H  -     chr7:129470573-129592783 -  7q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UBE2H  -     7q32.2   [Description]    (hg38-Dec_2013)
EnsemblUBE2H - 7q32.2 [CytoView hg19]  UBE2H - 7q32.2 [CytoView hg38]
Mapping of homologs : NCBIUBE2H [Mapview hg19]  UBE2H [Mapview hg38]
OMIM601082   
Gene and transcription
Genbank (Entrez)AB451490 AK024519 AK026094 AK091088 AK316590
RefSeq transcript (Entrez)NM_001202498 NM_003344 NM_182697
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)UBE2H
Cluster EST : UnigeneHs.643548 [ NCBI ]
CGAP (NCI)Hs.643548
Alternative Splicing GalleryENSG00000186591
Gene ExpressionUBE2H [ NCBI-GEO ]   UBE2H [ EBI - ARRAY_EXPRESS ]   UBE2H [ SEEK ]   UBE2H [ MEM ]
Gene Expression Viewer (FireBrowse)UBE2H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7328
GTEX Portal (Tissue expression)UBE2H
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62256   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62256  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62256
Splice isoforms : SwissVarP62256
PhosPhoSitePlusP62256
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)UBE2H
DMDM Disease mutations7328
Blocks (Seattle)UBE2H
PDB (SRS)2Z5D   
PDB (PDBSum)2Z5D   
PDB (IMB)2Z5D   
PDB (RSDB)2Z5D   
Structural Biology KnowledgeBase2Z5D   
SCOP (Structural Classification of Proteins)2Z5D   
CATH (Classification of proteins structures)2Z5D   
SuperfamilyP62256
Human Protein AtlasENSG00000186591
Peptide AtlasP62256
HPRD03052
IPIIPI00020965   IPI00982164   IPI00921583   IPI00946513   IPI00946362   IPI00947405   IPI00946975   IPI00946339   
Protein Interaction databases
DIP (DOE-UCLA)P62256
IntAct (EBI)P62256
FunCoupENSG00000186591
BioGRIDUBE2H
STRING (EMBL)UBE2H
ZODIACUBE2H
Ontologies - Pathways
QuickGOP62256
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  ATP binding  cytoplasm  ubiquitin-dependent protein catabolic process  ubiquitin protein ligase binding  proteasome-mediated ubiquitin-dependent protein catabolic process  ubiquitin protein ligase activity  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  protein K11-linked ubiquitination  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  ATP binding  cytoplasm  ubiquitin-dependent protein catabolic process  ubiquitin protein ligase binding  proteasome-mediated ubiquitin-dependent protein catabolic process  ubiquitin protein ligase activity  ubiquitin conjugating enzyme activity  protein K48-linked ubiquitination  protein K11-linked ubiquitination  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBE2H
Atlas of Cancer Signalling NetworkUBE2H
Wikipedia pathwaysUBE2H
Orthology - Evolution
OrthoDB7328
GeneTree (enSembl)ENSG00000186591
Phylogenetic Trees/Animal Genes : TreeFamUBE2H
HOVERGENP62256
HOGENOMP62256
Homologs : HomoloGeneUBE2H
Homology/Alignments : Family Browser (UCSC)UBE2H
Gene fusions - Rearrangements
Fusion : MitelmanNOTCH2NL/UBE2H [1q21.1/7q32.2]  [t(1;7)(q21;q32)]  
Fusion : MitelmanPTK2/UBE2H [8q24.3/7q32.2]  [t(7;8)(q32;q24)]  
Fusion: TCGANOTCH2NL 1q21.1 UBE2H 7q32.2 OV
Fusion: TCGAPTK2 8q24.3 UBE2H 7q32.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBE2H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBE2H
dbVarUBE2H
ClinVarUBE2H
1000_GenomesUBE2H 
Exome Variant ServerUBE2H
ExAC (Exome Aggregation Consortium)UBE2H (select the gene name)
Genetic variants : HAPMAP7328
Genomic Variants (DGV)UBE2H [DGVbeta]
DECIPHER (Syndromes)7:129470573-129592783  ENSG00000186591
CONAN: Copy Number AnalysisUBE2H 
Mutations
ICGC Data PortalUBE2H 
TCGA Data PortalUBE2H 
Broad Tumor PortalUBE2H
OASIS PortalUBE2H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBE2H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBE2H
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 UBE2H
DgiDB (Drug Gene Interaction Database)UBE2H
DoCM (Curated mutations)UBE2H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBE2H (select a term)
intoGenUBE2H
Cancer3DUBE2H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601082   
Orphanet
MedgenUBE2H
Genetic Testing Registry UBE2H
NextProtP62256 [Medical]
TSGene7328
GENETestsUBE2H
Huge Navigator UBE2H [HugePedia]
snp3D : Map Gene to Disease7328
BioCentury BCIQUBE2H
ClinGenUBE2H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7328
Chemical/Pharm GKB GenePA37133
Clinical trialUBE2H
Miscellaneous
canSAR (ICR)UBE2H (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBE2H
EVEXUBE2H
GoPubMedUBE2H
iHOPUBE2H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:24:05 CEST 2017

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