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EPN2 (epsin 2)

Identity

Alias_symbol (synonym)KIAA1065
EHB21
Other alias
HGNC (Hugo) EPN2
LocusID (NCBI) 22905
Atlas_Id 55609
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 19140690 and ends at 19240028 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
A2M (12p13.31) / EPN2 (17p11.2)B9D1 (17p11.2) / EPN2 (17p11.2)EPN2 (17p11.2) / AKAP10 (17p11.2)
EPN2 (17p11.2) / EPN2 (17p11.2)EPN2 (17p11.2) / KCNJ12 (17p11.2)HK1 (10q22.1) / EPN2 (17p11.2)
KIF13B (8p12) / EPN2 (17p11.2)RNF166 (16q24.3) / EPN2 (17p11.2)SGSM2 (17p13.3) / EPN2 (17p11.2)

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;11)(q14;q23) KMT2A/PICALM::inv(11)(q14q23) KMT2A/PICALM


External links

Nomenclature
HGNC (Hugo)EPN2   18639
Cards
Entrez_Gene (NCBI)EPN2  22905  epsin 2
AliasesEHB21
GeneCards (Weizmann)EPN2
Ensembl hg19 (Hinxton)ENSG00000072134 [Gene_View]  chr17:19140690-19240028 [Contig_View]  EPN2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000072134 [Gene_View]  chr17:19140690-19240028 [Contig_View]  EPN2 [Vega]
ICGC DataPortalENSG00000072134
TCGA cBioPortalEPN2
AceView (NCBI)EPN2
Genatlas (Paris)EPN2
WikiGenes22905
SOURCE (Princeton)EPN2
Genetics Home Reference (NIH)EPN2
Genomic and cartography
GoldenPath hg19 (UCSC)EPN2  -     chr17:19140690-19240028 +  17p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPN2  -     17p11.2   [Description]    (hg38-Dec_2013)
EnsemblEPN2 - 17p11.2 [CytoView hg19]  EPN2 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIEPN2 [Mapview hg19]  EPN2 [Mapview hg38]
OMIM607263   
Gene and transcription
Genbank (Entrez)AB028988 AF062084 AF062085 AK001491 AK001996
RefSeq transcript (Entrez)NM_001102664 NM_014964 NM_148921
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)EPN2
Cluster EST : UnigeneHs.743983 [ NCBI ]
CGAP (NCI)Hs.743983
Alternative Splicing GalleryENSG00000072134
Gene ExpressionEPN2 [ NCBI-GEO ]   EPN2 [ EBI - ARRAY_EXPRESS ]   EPN2 [ SEEK ]   EPN2 [ MEM ]
Gene Expression Viewer (FireBrowse)EPN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22905
GTEX Portal (Tissue expression)EPN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95208   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95208  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95208
Splice isoforms : SwissVarO95208
PhosPhoSitePlusO95208
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)    UIM (PS50330)   
Domains : Interpro (EBI)ENTH    ENTH_VHS    Epsin-2_metazoa    UIM_dom   
Domain families : Pfam (Sanger)ENTH (PF01417)   
Domain families : Pfam (NCBI)pfam01417   
Domain families : Smart (EMBL)ENTH (SM00273)  UIM (SM00726)  
Conserved Domain (NCBI)EPN2
DMDM Disease mutations22905
Blocks (Seattle)EPN2
SuperfamilyO95208
Human Protein AtlasENSG00000072134
Peptide AtlasO95208
HPRD06271
IPIIPI00397379   IPI00915293   IPI00790403   IPI00790988   IPI00791739   IPI00397381   
Protein Interaction databases
DIP (DOE-UCLA)O95208
IntAct (EBI)O95208
FunCoupENSG00000072134
BioGRIDEPN2
STRING (EMBL)EPN2
ZODIACEPN2
Ontologies - Pathways
QuickGOO95208
Ontology : AmiGOprotein binding  nucleoplasm  Golgi apparatus  endocytosis  lipid binding  regulation of endocytosis  clathrin coat of endocytic vesicle  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprotein binding  nucleoplasm  Golgi apparatus  endocytosis  lipid binding  regulation of endocytosis  clathrin coat of endocytic vesicle  intracellular membrane-bounded organelle  
Pathways : KEGGEndocytosis   
NDEx NetworkEPN2
Atlas of Cancer Signalling NetworkEPN2
Wikipedia pathwaysEPN2
Orthology - Evolution
OrthoDB22905
GeneTree (enSembl)ENSG00000072134
Phylogenetic Trees/Animal Genes : TreeFamEPN2
HOVERGENO95208
HOGENOMO95208
Homologs : HomoloGeneEPN2
Homology/Alignments : Family Browser (UCSC)EPN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPN2
dbVarEPN2
ClinVarEPN2
1000_GenomesEPN2 
Exome Variant ServerEPN2
ExAC (Exome Aggregation Consortium)EPN2 (select the gene name)
Genetic variants : HAPMAP22905
Genomic Variants (DGV)EPN2 [DGVbeta]
DECIPHER (Syndromes)17:19140690-19240028  ENSG00000072134
CONAN: Copy Number AnalysisEPN2 
Mutations
ICGC Data PortalEPN2 
TCGA Data PortalEPN2 
Broad Tumor PortalEPN2
OASIS PortalEPN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPN2
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 EPN2
DgiDB (Drug Gene Interaction Database)EPN2
DoCM (Curated mutations)EPN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPN2 (select a term)
intoGenEPN2
Cancer3DEPN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607263   
Orphanet
MedgenEPN2
Genetic Testing Registry EPN2
NextProtO95208 [Medical]
TSGene22905
GENETestsEPN2
Huge Navigator EPN2 [HugePedia]
snp3D : Map Gene to Disease22905
BioCentury BCIQEPN2
ClinGenEPN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22905
Chemical/Pharm GKB GenePA38615
Clinical trialEPN2
Miscellaneous
canSAR (ICR)EPN2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPN2
EVEXEPN2
GoPubMedEPN2
iHOPEPN2
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 15:00:13 CEST 2017

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