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EPN3 (epsin 3)

Identity

Other alias-
HGNC (Hugo) EPN3
LocusID (NCBI) 55040
Atlas_Id 57042
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50532687 and ends at 50543750 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)
DGKE (17q22) / EPN3 (17q21.33)SLC25A17 (22q13.2) / EPN3 (17q21.33)

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)EPN3   18235
Cards
Entrez_Gene (NCBI)EPN3  55040  epsin 3
Aliases
GeneCards (Weizmann)EPN3
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:50532687-50543750 [Contig_View]  EPN3 [Vega]
TCGA cBioPortalEPN3
AceView (NCBI)EPN3
Genatlas (Paris)EPN3
WikiGenes55040
SOURCE (Princeton)EPN3
Genetics Home Reference (NIH)EPN3
Genomic and cartography
GoldenPath hg38 (UCSC)EPN3  -     chr17:50532687-50543750 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPN3  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblEPN3 - 17q21.33 [CytoView hg19]  EPN3 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIEPN3 [Mapview hg19]  EPN3 [Mapview hg38]
OMIM607264   
Gene and transcription
Genbank (Entrez)AF324241 AK000785 AK291658 AK292977 AK295730
RefSeq transcript (Entrez)NM_017957
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPN3
Cluster EST : UnigeneHs.670090 [ NCBI ]
CGAP (NCI)Hs.670090
Gene ExpressionEPN3 [ NCBI-GEO ]   EPN3 [ EBI - ARRAY_EXPRESS ]   EPN3 [ SEEK ]   EPN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EPN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55040
GTEX Portal (Tissue expression)EPN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H201   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H201  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H201
Splice isoforms : SwissVarQ9H201
PhosPhoSitePlusQ9H201
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)    UIM (PS50330)   
Domains : Interpro (EBI)ENTH    ENTH_VHS    Epsin-3_metazoa    UIM_dom   
Domain families : Pfam (Sanger)ENTH (PF01417)    UIM (PF02809)   
Domain families : Pfam (NCBI)pfam01417    pfam02809   
Domain families : Smart (EMBL)ENTH (SM00273)  UIM (SM00726)  
Conserved Domain (NCBI)EPN3
DMDM Disease mutations55040
Blocks (Seattle)EPN3
SuperfamilyQ9H201
Peptide AtlasQ9H201
IPIIPI00300584   IPI00386833   IPI00973233   IPI00845319   IPI01014820   IPI01012091   IPI00910899   IPI00966864   IPI00966075   IPI00965135   IPI00966413   IPI00968262   
Protein Interaction databases
DIP (DOE-UCLA)Q9H201
IntAct (EBI)Q9H201
BioGRIDEPN3
STRING (EMBL)EPN3
ZODIACEPN3
Ontologies - Pathways
QuickGOQ9H201
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  clathrin-coated pit  lipid binding  extrinsic component of plasma membrane  clathrin-coated vesicle  intracellular membrane-bounded organelle  perinuclear region of cytoplasm  extracellular exosome  EH domain binding  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  clathrin-coated pit  lipid binding  extrinsic component of plasma membrane  clathrin-coated vesicle  intracellular membrane-bounded organelle  perinuclear region of cytoplasm  extracellular exosome  EH domain binding  
Pathways : KEGGEndocytosis   
NDEx NetworkEPN3
Atlas of Cancer Signalling NetworkEPN3
Wikipedia pathwaysEPN3
Orthology - Evolution
OrthoDB55040
Phylogenetic Trees/Animal Genes : TreeFamEPN3
HOVERGENQ9H201
HOGENOMQ9H201
Homologs : HomoloGeneEPN3
Homology/Alignments : Family Browser (UCSC)EPN3
Gene fusions - Rearrangements
Fusion: Tumor Portal EPN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPN3
dbVarEPN3
ClinVarEPN3
1000_GenomesEPN3 
Exome Variant ServerEPN3
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP55040
Genomic Variants (DGV)EPN3 [DGVbeta]
DECIPHEREPN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPN3 
Mutations
ICGC Data PortalEPN3 
TCGA Data PortalEPN3 
Broad Tumor PortalEPN3
OASIS PortalEPN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPN3
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 EPN3
DgiDB (Drug Gene Interaction Database)EPN3
DoCM (Curated mutations)EPN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPN3 (select a term)
intoGenEPN3
Cancer3DEPN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607264   
Orphanet
MedgenEPN3
Genetic Testing Registry EPN3
NextProtQ9H201 [Medical]
TSGene55040
GENETestsEPN3
Target ValidationEPN3
Huge Navigator EPN3 [HugePedia]
snp3D : Map Gene to Disease55040
BioCentury BCIQEPN3
ClinGenEPN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55040
Chemical/Pharm GKB GenePA38513
Clinical trialEPN3
Miscellaneous
canSAR (ICR)EPN3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPN3
EVEXEPN3
GoPubMedEPN3
iHOPEPN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:48:55 CET 2017

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