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EPN2 (epsin 2)

Identity

Alias (NCBI)EHB21
HGNC (Hugo) EPN2
HGNC Alias symbKIAA1065
EHB21
HGNC Alias nameEps15 binding protein
LocusID (NCBI) 22905
Atlas_Id 55609
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 19237377 and ends at 19336715 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)
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    epsin 2
AliasesEHB21
GeneCards (Weizmann)EPN2
Ensembl hg19 (Hinxton)ENSG00000072134 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072134 [Gene_View]  ENSG00000072134 [Sequence]  chr17:19237377-19336715 [Contig_View]  EPN2 [Vega]
ICGC DataPortalENSG00000072134
TCGA cBioPortalEPN2
AceView (NCBI)EPN2
Genatlas (Paris)EPN2
SOURCE (Princeton)EPN2
Genetics Home Reference (NIH)EPN2
Genomic and cartography
GoldenPath hg38 (UCSC)EPN2  -     chr17:19237377-19336715 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPN2  -     17p11.2   [Description]    (hg19-Feb_2009)
GoldenPathEPN2 - 17p11.2 [CytoView hg19]  EPN2 - 17p11.2 [CytoView hg38]
ImmunoBaseENSG00000072134
Genome Data Viewer NCBIEPN2 [Mapview hg19]  
OMIM607263   
Gene and transcription
Genbank (Entrez)AB028988 AF062084 AF062085 AK001491 AK001996
RefSeq transcript (Entrez)NM_001102664 NM_014964 NM_148921
Consensus coding sequences : CCDS (NCBI)EPN2
Gene ExpressionEPN2 [ NCBI-GEO ]   EPN2 [ EBI - ARRAY_EXPRESS ]   EPN2 [ SEEK ]   EPN2 [ MEM ]
Gene Expression Viewer (FireBrowse)EPN2 [ Firebrowse - Broad ]
GenevisibleExpression of EPN2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22905
GTEX Portal (Tissue expression)EPN2
Human Protein AtlasENSG00000072134-EPN2 [pathology]   [cell]   [tissue]
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
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
SuperfamilyO95208
AlphaFold pdb e-kbO95208   
Human Protein Atlas [tissue]ENSG00000072134-EPN2 [tissue]
HPRD06271
Protein Interaction databases
DIP (DOE-UCLA)O95208
IntAct (EBI)O95208
BioGRIDEPN2
STRING (EMBL)EPN2
ZODIACEPN2
Ontologies - Pathways
QuickGOO95208
Ontology : AmiGOprotein binding  phospholipid binding  endosome  cytosol  plasma membrane  endocytosis  clathrin vesicle coat  clathrin coat of endocytic vesicle  clathrin binding  negative regulation of vascular endothelial growth factor receptor signaling pathway  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cadherin binding  positive regulation of Notch signaling pathway  membrane organization  negative regulation of sprouting angiogenesis  
Ontology : EGO-EBIprotein binding  phospholipid binding  endosome  cytosol  plasma membrane  endocytosis  clathrin vesicle coat  clathrin coat of endocytic vesicle  clathrin binding  negative regulation of vascular endothelial growth factor receptor signaling pathway  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cadherin binding  positive regulation of Notch signaling pathway  membrane organization  negative regulation of sprouting angiogenesis  
Pathways : KEGGEndocytosis   
NDEx NetworkEPN2
Atlas of Cancer Signalling NetworkEPN2
Wikipedia pathwaysEPN2
Orthology - Evolution
OrthoDB22905
GeneTree (enSembl)ENSG00000072134
Phylogenetic Trees/Animal Genes : TreeFamEPN2
Homologs : HomoloGeneEPN2
Homology/Alignments : Family Browser (UCSC)EPN2
Gene fusions - Rearrangements
Fusion : QuiverEPN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPN2
dbVarEPN2
ClinVarEPN2
MonarchEPN2
1000_GenomesEPN2 
Exome Variant ServerEPN2
GNOMAD BrowserENSG00000072134
Varsome BrowserEPN2
ACMGEPN2 variants
VarityO95208
Genomic Variants (DGV)EPN2 [DGVbeta]
DECIPHEREPN2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DEPN2
Mutations and Diseases : HGMDEPN2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEPN2
DgiDB (Drug Gene Interaction Database)EPN2
DoCM (Curated mutations)EPN2
CIViC (Clinical Interpretations of Variants in Cancer)EPN2
Cancer3DEPN2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607263   
Orphanet
DisGeNETEPN2
MedgenEPN2
Genetic Testing Registry EPN2
NextProtO95208 [Medical]
GENETestsEPN2
Target ValidationEPN2
Huge Navigator EPN2 [HugePedia]
ClinGenEPN2
Clinical trials, drugs, therapy
MyCancerGenomeEPN2
Protein Interactions : CTDEPN2
Pharm GKB GenePA38615
PharosO95208
Clinical trialEPN2
Miscellaneous
canSAR (ICR)EPN2
HarmonizomeEPN2
ARCHS4EPN2
DataMed IndexEPN2
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEPN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:23:28 CET 2022

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