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EPN3 Gene

protein-coding   GIFtS: 53
GCID: GC17P048610

Epsin 3

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Epsin 31 2
EPS-15-Interacting Protein 32 3
epsin-32

External Ids:    HGNC: 182351   Entrez Gene: 550402   Ensembl: ENSG000000492837   OMIM: 6072645   UniProtKB: Q9H2013   

Export aliases for EPN3 gene to outside databases

Previous GC identifers: GC17P048323 GC17P051091 GC17P048952 GC17P049084 GC17P045965 GC17P043978


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EPN3 Gene:
EPN3 (epsin 3) is a protein-coding gene. GO annotations related to this gene include lipid binding. An important paralog of this gene is CLINT1.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the EPN3 gene promoter:
         SRF   ER-alpha   p53   Pax-5   STAT1beta   AREB6   PPAR-alpha   IRF-7A   ARP-1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EPN3 promoter sequence
   Search Chromatin IP Primers for EPN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

EPN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPN3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P048610:  view genomic region     (about GC identifiers)

Start:
48,609,904 bp from pter      End:
48,621,111 bp from pter
Size:
11,208 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EPN3_HUMAN, Q9H201 (See protein sequence)
Recommended Name: Epsin-3  
Size: 632 amino acids; 68222 Da
Secondary accessions: A8K6J3 A8KAB2 Q9BVN6 Q9NWK2
Alternative splicing: 2 isoforms:  Q9H201-1   Q9H201-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for EPN3: NX_Q9H201

Explore proteomics data for EPN3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys23
  • Modification sites at PhosphoSitePlus

  • See EPN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060427.2  
    ENSEMBL proteins: 
     ENSP00000268933   ENSP00000426762   ENSP00000424306   ENSP00000422682   ENSP00000421936  
     ENSP00000422201   ENSP00000421933   ENSP00000426676   ENSP00000422601   ENSP00000421515  
     ENSP00000460911   ENSP00000439512   ENSP00000440540  

    EPN3 Human Recombinant Protein Products:

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    Novus Biologicals EPN3 Proteins
    Novus Biologicals EPN3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPN3

     
    Search eBioscience for Proteins for EPN3 

     
    antibodies-online proteins for EPN3 (7 products) 

     
    antibodies-online peptides for EPN3

    EPN3 Antibody Products:

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    antibodies-online antibodies for EPN3 (18 products) 

    EPN3 Assay Products:

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    Cloud-Clone Corp. ELISAs for EPN3
    Cloud-Clone Corp. CLIAs for EPN3
    Search eBioscience for ELISAs for EPN3 
    antibodies-online kits for EPN3 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR027318 Epsin-3_metazoa
     IPR003903 Ubiquitin-int_motif
     IPR001026 Epsin_dom_N
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry Q9H201

    ProtoNet protein and cluster: Q9H201

    3 Blocks protein domains:
    IPB001026 Epsin N-terminal homology
    IPB003903 Ubiquitin interacting motif
    IPB013809 Epsin-like


    UniProtKB/Swiss-Prot: EPN3_HUMAN, Q9H201
    Similarity: Belongs to the epsin family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain
    Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats


    Find genes that share domains with EPN3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPN3_HUMAN, Q9H201
    Induction: In keratinocytes, by wounding or contact with collagen

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005543phospholipid binding ----
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with EPN3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for EPN3:
     Increased cell death HMECs cel  Increased cell number in G2M,  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Epn3):
     normal 

    Find genes that share phenotypes with EPN3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Epn3tm1.1Pdc for EPN3

       genOway: Develop your customized and physiologically relevant rodent model for EPN3

    miRNA
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    Block miRNA regulation of human, mouse, rat EPN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EPN3 (see all 9):
    hsa-miR-345 hsa-miR-3164 hsa-miR-16-2* hsa-miR-888 hsa-miR-1224-5p hsa-miR-3160-3p hsa-miR-145 hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidEPN3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EPN3
    Predesigned siRNA for gene silencing in human, mouse, rat EPN3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPN3

    Clone
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    OriGene ORF clones in mouse, rat for EPN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPN3 (NM_017957)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPN3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPN3

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12009) for EPN3 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPN3_HUMAN, Q9H201: Cytoplasm. Cytoplasm, perinuclear region. Cytoplasmic vesicle, clathrin-coated vesicle.
    Nucleus (Probable). Note=Concentrated in the perinuclear region and associated with clathrin-coated vesicles
    close to the cell periphery. May shuttle to the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11359770
    GO:0005905coated pit IEA--
    GO:0019897extrinsic component of plasma membrane IDA--
    GO:0030136clathrin-coated vesicle IDA11359770
    GO:0048471perinuclear region of cytoplasm IDA11359770

    Find genes that share ontologies with EPN3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EPN3 About    
    See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    2Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    3PAK Pathway
    Epithelial Adherens Junctions0.36
    4Notch Signaling Pathways
    Notch Signaling Pathways
    5Endocytosis
    Endocytosis


    Find genes that share SuperPaths with EPN3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EPN3
        Notch Signaling Pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EPN3
        Endocytic Trafficking of EGFR
    Sertoli-Sertoli Cell Junction Dynamics
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions


    1 Kegg Pathway  (Kegg details for EPN3):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPN3
    Interactions:

        Search GeneGlobe Interaction Network for EPN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EPN3 (Q9H2012, 3 ENSP000002689334) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAPTM5Q135712, 3MINT-62175 I2D: score=3 
    RNF11Q9Y3C52, 3MINT-60881 I2D: score=3 
    CSF1RENSP000002863014STRING: ENSP00000286301
    EGFRENSP000002754934STRING: ENSP00000275493
    ERBB4ENSP000003422354STRING: ENSP00000342235
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EPN3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EPN3 gene: 
    NM_017957.2  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000268933(uc002ira.4 uc010wms.2 uc010wmt.2 uc010wmu.2)
    ENST00000503246 ENST00000503690 ENST00000514874 ENST00000510462 ENST00000515028
    ENST00000571402 ENST00000507998 ENST00000512291 ENST00000512379 ENST00000510045
    ENST00000504857 ENST00000507709 ENST00000511414 ENST00000515126 ENST00000507467
    ENST00000574464 ENST00000537145
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EPN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EPN3 (see all 9):
    hsa-miR-345 hsa-miR-3164 hsa-miR-16-2* hsa-miR-888 hsa-miR-1224-5p hsa-miR-3160-3p hsa-miR-145 hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidEPN3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EPN3
    Predesigned siRNA for gene silencing in human, mouse, rat EPN3
    Clone
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    OriGene clones in human, mouse for EPN3 (see all 6)
    OriGene ORF clones in mouse, rat for EPN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPN3 (NM_017957)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPN3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EPN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPN3
      QuantiTect SYBR Green Assays in human, mouse, rat EPN3
      QuantiFast Probe-based Assays in human, mouse, rat EPN3
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12009) for EPN3 

    Selected AceView cDNA sequences (see all 368):

    BX343408 BM834281 AL542163 AI246773 NM_022827 BC017468 BC025255 BU734457 
    BU731005 BI520463 AA429592 CK000096 CF145280 BM981734 AF324241 BQ949633 
    BM787432 CB155619 BM789155 BQ003399 BM691701 BQ000242 CB128591 CA416474 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EPN3 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                          -     -     -     -           -     -     -                                                                                       
    SP4:                                      -     -           -     -     -                                                                                       
    SP5:                                      -     -                 -     -                                                                                       

    ExUns: 13
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for EPN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCACTGGGG
    EPN3 Expression
    About this image

    EPN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPN3 Protein Expression

    UniProtKB/Swiss-Prot: EPN3_HUMAN, Q9H201
    Tissue specificity: Detected in migrating keratinocytes from wounded skin, but not in differentiating
    keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis

        Custom PCR Arrays for EPN3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPN3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for EPN3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epn31 , 5 epsin 31, 5 85.66(n)1
    88.28(a)1
      11 (58.90 cM)5
    718891  NM_027984.31  NP_082260.11 
     944895995 
    chicken
    (Gallus gallus)
    Aves EPN31 epsin 3 70.22(n)
    67.85(a)
      100859290  XM_003642365.2  XP_003642413.2 
    lizard
    (Anolis carolinensis)
    Reptilia EPN36
    epsin 3
    66(a)
    1 ↔ 1
    2(116438937-116471400)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia epn31 epsin 3 54.65(n)
    52.47(a)
      448199  NM_001005693.1  NP_001005693.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5714531 epsin-3-like 63.35(n)
    60.54(a)
      571453  XM_695043.5  XP_700135.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta lqf3 neurotransmitter secretion 36(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T04C10.2b3 Yeast hypothetical protein L8167.6 like 39(a)
    (best of 2)
      X(14851850-14853718)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENT36
    Protein containing an N-terminal epsin-like domain...
    28(a)
    1 → many
    X(654737-655963) YJR125C


    ENSEMBL Gene Tree for EPN3 (if available)
    TreeFam Gene Tree for EPN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EPN3 gene
    CLINT12  EPN12  EPN22  ENTHD12  
    2 SIMAP similar genes for EPN3 using alignment to 12 protein entries:     EPN3_HUMAN (see all proteins):
    EPN2    EPN1

    Find genes that share paralogs with EPN3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPN3 (see all 371)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881319691,2
    --48609372(+) AAACTA/GTCTGG 1 -- us2k10--------
    rs1820017671,2
    C--48609422(+) TTCATA/GCTACC 1 -- us2k10--------
    rs1862800911,2
    --48609425(+) ATGCTA/TCCTCC 1 -- us2k10--------
    rs1433653291,2
    C--48609457(+) CAGGCC/TAGAAA 1 -- us2k10--------
    rs47941571,2
    C,F,H--48609558(+) GTGAAC/GAGCAC 1 -- us2k121Minor allele frequency- G:0.15NA NS EA WA CSA 909
    rs99007471,2
    C,A,H--48609789(+) GGAATA/GTCCCT 1 -- us2k1 tfbs316Minor allele frequency- G:0.17MN EA NA WA CSA 737
    rs1907075501,2
    --48609817(+) CCTCCA/CGGCCC 1 -- us2k10--------
    rs1816056241,2
    --48609851(+) GTGGGA/GGTGTT 1 -- us2k10--------
    rs129530661,2
    C,F,H--48609962(+) GGCGGT/CCAACA 1 -- us2k115Minor allele frequency- C:0.12NS EA NA WA CSA 759
    rs126012861,2
    C,H--48610033(+) CCTGCG/ACTTCC 1 -- us2k113Minor allele frequency- A:0.15NA WA CSA EA 377

    HapMap Linkage Disequilibrium report for EPN3 (48609904 - 48621111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for EPN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv465e201CNV Deletion23290073
    esv2716036CNV Deletion23290073
    esv2716034CNV Deletion23290073
    nsv908605CNV Loss21882294
    dgv3230n71CNV Loss21882294
    dgv3229n71CNV Loss21882294
    nsv833477CNV Loss17160897
    nsv908600CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for EPN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607264    OMIM disorders: --


    Find genes that share disorders with EPN3           About GenesLikeMe


    Export disorders for EPN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EPN3 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with EPN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Epsin 3 is a novel extracellular matrix-induced transcript specific to wounded epithelia. (PubMed id 11359770)1, 2, 3, 9 Spradling K.D.... Pilcher B.K. (J. Biol. Chem. 2001)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Cloning and initial characterization of human epsin 3, a novel matrix-induced keratinocyte specific transcript (PubMed id 10951261)1, 3 Spradling K.D....Pilcher B.K. (J. Invest. Dermatol. 2000)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Selective high-level expression of epsin 3 in gastric parietal cells, where it is localized at endocytic sites of apical canaliculi. (PubMed id 21115825)1 Ko G....De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    9. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55040 HGNC: 18235 AceView: EPN3andSSP411 Ensembl:ENSG00000049283 euGenes: HUgn55040
    ECgene: EPN3 Kegg: 55040 H-InvDB: EPN3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EPN3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EPN3 gene:
    Search GeneIP for patents involving EPN3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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