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HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

Identity

Alias_nameshect domain and RLD 2
Alias_symbol (synonym)jdf2
p528
D15F37S1
Other aliasMRT38
SHEP1
HGNC (Hugo) HERC2
LocusID (NCBI) 8924
Atlas_Id 46802
Location 15q13.1  [Link to chromosome band 15q13]
Location_base_pair Starts at 28111037 and ends at 28322152 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HERC2 (15q13.1) / HERC2P2 (15q11.2)HERC2 (15q13.1) / HERC2P3 (15q11.1)HERC2 (15q13.1) / TBCE (1q42.3)
SLC15A4 (12q24.32) / HERC2 (15q13.1)

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

 


External links

Nomenclature
HGNC (Hugo)HERC2   4868
Cards
Entrez_Gene (NCBI)HERC2  8924  HECT and RLD domain containing E3 ubiquitin protein ligase 2
AliasesD15F37S1; MRT38; SHEP1; jdf2; 
p528
GeneCards (Weizmann)HERC2
Ensembl hg19 (Hinxton)ENSG00000128731 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128731 [Gene_View]  chr15:28111037-28322152 [Contig_View]  HERC2 [Vega]
ICGC DataPortalENSG00000128731
TCGA cBioPortalHERC2
AceView (NCBI)HERC2
Genatlas (Paris)HERC2
WikiGenes8924
SOURCE (Princeton)HERC2
Genetics Home Reference (NIH)HERC2
Genomic and cartography
GoldenPath hg38 (UCSC)HERC2  -     chr15:28111037-28322152 -  15q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HERC2  -     15q13.1   [Description]    (hg19-Feb_2009)
EnsemblHERC2 - 15q13.1 [CytoView hg19]  HERC2 - 15q13.1 [CytoView hg38]
Mapping of homologs : NCBIHERC2 [Mapview hg19]  HERC2 [Mapview hg38]
OMIM176270   227220   605837   615516   
Gene and transcription
Genbank (Entrez)AF071172 AI820017 AK122977 AK125229 AL834183
RefSeq transcript (Entrez)NM_004667
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_016355 NT_187660 NW_011332701
Consensus coding sequences : CCDS (NCBI)HERC2
Cluster EST : UnigeneHs.741019 [ NCBI ]
CGAP (NCI)Hs.741019
Alternative Splicing GalleryENSG00000128731
Gene ExpressionHERC2 [ NCBI-GEO ]   HERC2 [ EBI - ARRAY_EXPRESS ]   HERC2 [ SEEK ]   HERC2 [ MEM ]
Gene Expression Viewer (FireBrowse)HERC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8924
GTEX Portal (Tissue expression)HERC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95714   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95714  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95714
Splice isoforms : SwissVarO95714
PhosPhoSitePlusO95714
Domaine pattern : Prosite (Expaxy)CYTOCHROME_B5_2 (PS50255)    DOC (PS51284)    HECT (PS50237)    MIB_HERC2 (PS51416)    RCC1_2 (PS00626)    RCC1_3 (PS50012)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)APC_su10/DOC_dom    Beta-propeller_rpt_TECPR    CPH_domain    Cyt_B5-like_heme/steroid-bd    Galactose-bd-like    HECT_dom    Mib_Herc2    RCC1/BLIP-II    Reg_chr_condens    Rib_L2_dom2    Znf_ZZ   
Domain families : Pfam (Sanger)ANAPC10 (PF03256)    Cul7 (PF11515)    Cyt-b5 (PF00173)    HECT (PF00632)    MIB_HERC2 (PF06701)    RCC1 (PF00415)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam03256    pfam11515    pfam00173    pfam00632    pfam06701    pfam00415    pfam00569   
Domain families : Smart (EMBL)APC10 (SM01337)  Cyt-b5 (SM01117)  HECTc (SM00119)  TECPR (SM00706)  ZnF_ZZ (SM00291)  
Conserved Domain (NCBI)HERC2
DMDM Disease mutations8924
Blocks (Seattle)HERC2
PDB (SRS)2KEO    3KCI    4L1M   
PDB (PDBSum)2KEO    3KCI    4L1M   
PDB (IMB)2KEO    3KCI    4L1M   
PDB (RSDB)2KEO    3KCI    4L1M   
Structural Biology KnowledgeBase2KEO    3KCI    4L1M   
SCOP (Structural Classification of Proteins)2KEO    3KCI    4L1M   
CATH (Classification of proteins structures)2KEO    3KCI    4L1M   
SuperfamilyO95714
Human Protein AtlasENSG00000128731
Peptide AtlasO95714
HPRD06905
IPIIPI00005826   IPI00741971   
Protein Interaction databases
DIP (DOE-UCLA)O95714
IntAct (EBI)O95714
FunCoupENSG00000128731
BioGRIDHERC2
STRING (EMBL)HERC2
ZODIACHERC2
Ontologies - Pathways
QuickGOO95714
Ontology : AmiGOubiquitin-protein transferase activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrial inner membrane  centriole  double-strand break repair via nonhomologous end joining  intracellular protein transport  cellular response to DNA damage stimulus  spermatogenesis  zinc ion binding  membrane  protein ubiquitination  protein ubiquitination  ubiquitin protein ligase binding  SUMO binding  positive regulation of GTPase activity  
Ontology : EGO-EBIubiquitin-protein transferase activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrial inner membrane  centriole  double-strand break repair via nonhomologous end joining  intracellular protein transport  cellular response to DNA damage stimulus  spermatogenesis  zinc ion binding  membrane  protein ubiquitination  protein ubiquitination  ubiquitin protein ligase binding  SUMO binding  positive regulation of GTPase activity  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkHERC2
Atlas of Cancer Signalling NetworkHERC2
Wikipedia pathwaysHERC2
Orthology - Evolution
OrthoDB8924
GeneTree (enSembl)ENSG00000128731
Phylogenetic Trees/Animal Genes : TreeFamHERC2
HOVERGENO95714
HOGENOMO95714
Homologs : HomoloGeneHERC2
Homology/Alignments : Family Browser (UCSC)HERC2
Gene fusions - Rearrangements
Fusion Cancer (Beijing)HERC2 [15q13.1]  -  HERC2P2 [15q11.2]  [FUSC001624]  [FUSC001624]  [FUSC001624]
Fusion Cancer (Beijing)HERC2 [15q13.1]  -  HERC2P3 [15q11.1]  [FUSC001296]  [FUSC001296]  [FUSC001296]  [FUSC001296]  [FUSC001296]  [FUSC001296]  [FUSC001296]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHERC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HERC2
dbVarHERC2
ClinVarHERC2
1000_GenomesHERC2 
Exome Variant ServerHERC2
ExAC (Exome Aggregation Consortium)HERC2 (select the gene name)
Genetic variants : HAPMAP8924
Genomic Variants (DGV)HERC2 [DGVbeta]
DECIPHERHERC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHERC2 
Mutations
ICGC Data PortalHERC2 
TCGA Data PortalHERC2 
Broad Tumor PortalHERC2
OASIS PortalHERC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHERC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHERC2
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch HERC2
DgiDB (Drug Gene Interaction Database)HERC2
DoCM (Curated mutations)HERC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HERC2 (select a term)
intoGenHERC2
Cancer3DHERC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176270    227220    605837    615516   
Orphanet21906   
MedgenHERC2
Genetic Testing Registry HERC2
NextProtO95714 [Medical]
TSGene8924
GENETestsHERC2
Target ValidationHERC2
Huge Navigator HERC2 [HugePedia]
snp3D : Map Gene to Disease8924
BioCentury BCIQHERC2
ClinGenHERC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8924
Chemical/Pharm GKB GenePA29243
Clinical trialHERC2
Miscellaneous
canSAR (ICR)HERC2 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHERC2
EVEXHERC2
GoPubMedHERC2
iHOPHERC2
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 12:36:38 CEST 2017

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