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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPN2 Gene

protein-coding   GIFtS: 58
GCID: GC17P019118

Epsin 2

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Epsin 21 2
Eps15 Binding Protein1 2
EPS-15-Interacting Protein 22 3
KIAA10653 5
EHB212
epsin-22

External Ids:    HGNC: 186391   Entrez Gene: 229052   Ensembl: ENSG000000721347   OMIM: 6072635   UniProtKB: O952083   

Export aliases for EPN2 gene to outside databases

Previous GC identifers: GC17P019198 GC17P020612 GC17P019045 GC17P019302 GC17P019081 GC17P019140 GC17P018522


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EPN2 Gene:
This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit.
The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region
and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate
splicing of this gene results in multiple transcript variants encoding different isoforms. (provided by RefSeq,
Jul 2008)

GeneCards Summary for EPN2 Gene: 
EPN2 (epsin 2) is a protein-coding gene. Diseases associated with EPN2 include alzheimer's disease, and among its related super-pathways are Sertoli-Sertoli Cell Junction Dynamics and Retrograde neurotrophin signalling. GO annotations related to this gene include lipid binding. An important paralog of this gene is CLINT1.

UniProtKB/Swiss-Prot: EPN2_HUMAN, O95208
Function: Plays a role in the formation of clathrin-coated invaginations and endocytosis

Gene Wiki entry for EPN2 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPN2 gene promoter:
         Sp1   Bach2   Egr-1   E47   Egr-4   N-Myc   Egr-2   CP2   Hand1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPN2


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

EPN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPN2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P019118:  view genomic region     (about GC identifiers)

Start:
19,118,928 bp from pter      End:
19,240,028 bp from pter
Size:
121,101 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EPN2_HUMAN, O95208 (See protein sequence)
Recommended Name: Epsin-2  
Size: 641 amino acids; 68482 Da
Subunit: Binds EPS15 (By similarity). Binds AP-2 and clathrin
Subcellular location: Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle. Note=In punctate structures
throughout the cell, associated with clathrin-coated vesicles, and particularly concentrated in the region of the
Golgi complex
Sequence caution: Sequence=BAA83017.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAG52540.1; Type=Erroneous termination; Positions=324; Note=Translated as Glu;
Secondary accessions: A8MTV8 B3KRX8 E9PBC2 O95207 Q52LD0 Q9H7Z2 Q9UPT7
Alternative splicing: 4 isoforms:  O95208-1   O95208-2   O95208-3   O95208-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EPN2: NX_O95208

Explore proteomics data for EPN2 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95208

  • EPN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPN2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001096134.1  NP_055779.2  NP_683723.2  

    ENSEMBL proteins: 
     ENSP00000462465   ENSP00000464206   ENSP00000462426   ENSP00000320543   ENSP00000463141  
     ENSP00000463627   ENSP00000463769   ENSP00000378980   ENSP00000378990   ENSP00000460193  
     ENSP00000459678   ENSP00000462958   ENSP00000462606   ENSP00000462392   ENSP00000378982  
     ENSP00000378988   ENSP00000459542   ENSP00000261495  

    Human Recombinant Protein Products for EPN2: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for EPN2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030128clathrin coat of endocytic vesicle IEA--

    EPN2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for EPN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR027319 Epsin-2_metazoa
     IPR003903 Ubiquitin-int_motif
     IPR001026 Epsin_dom_N
     IPR008942 ENTH_VHS
     IPR013809 Epsin-like_N

    Graphical View of Domain Structure for InterPro Entry O95208

    ProtoNet protein and cluster: O95208

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


    UniProtKB/Swiss-Prot: EPN2_HUMAN, O95208
    Domain: The NPF repeat domain is involved in EPS15 binding
    Domain: The DPW repeat domain is involved in AP-2 and clathrin binding
    Similarity: Belongs to the epsin family
    Similarity: Contains 1 ENTH (epsin N-terminal homology) domain
    Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats


    EPN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPN2_HUMAN, O95208
    Function: Plays a role in the formation of clathrin-coated invaginations and endocytosis

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding ----
    GO:0008289lipid binding IEA--
         
    EPN2 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Epn2):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  normal  reproductive system  tumorigenesis 

    EPN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epn2tm1Ocr for EPN2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPN2

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    miRNA
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    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate EPN2 (see all 79):
    hsa-miR-323-3p hsa-miR-631 hsa-miR-485-3p hsa-miR-4305 hsa-miR-30d hsa-miR-342-3p hsa-miR-3161 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEPN2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EPN2 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for EPN2
        Notch Signaling Pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPN2
        Endocytic Trafficking of EGFR
    Sertoli-Sertoli Cell Junction Dynamics
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions


    1         Kegg Pathway  (Kegg details for EPN2):
        Endocytosis


    EPN2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EPN2

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

    5/83 Interacting proteins for EPN2 (O952083 ENSP000003205434) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLTCQ006103, ENSP000002691224I2D: score=3 STRING: ENSP00000269122
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    EPS15P425663, ENSP000003607984I2D: score=3 STRING: ENSP00000360798
    TFAP2AP055493, ENSP000003689244I2D: score=1 STRING: ENSP00000368924
    TUBA1BP683633, ENSP000003367994I2D: score=2 STRING: ENSP00000336799
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006897endocytosis IEA--
    GO:0007219Notch signaling pathway IEA--
    GO:0048568embryonic organ development IEA--

    EPN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPN2

    Search CenterWatch for drugs/clinical trials and news about EPN2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EPN2 gene (3 alternative transcripts): 
    NM_001102664.1  NM_014964.4  NM_148921.3  

    Unigene Cluster for EPN2:

    Epsin 2
    Hs.743983  [show with all ESTs]
    Unigene Representative Sequence: NM_014964
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000582015 ENST00000399085 ENST00000399086 ENST00000584707 ENST00000584633
    ENST00000441293 ENST00000314728(uc002gvd.4 uc002gvh.1) ENST00000582659
    ENST00000583197 ENST00000577692 ENST00000580579 ENST00000395618 ENST00000395628
    ENST00000582234 ENST00000494192 ENST00000575595 ENST00000581024 ENST00000577244

    miRNA
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    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate EPN2 (see all 79):
    hsa-miR-323-3p hsa-miR-631 hsa-miR-485-3p hsa-miR-4305 hsa-miR-30d hsa-miR-342-3p hsa-miR-3161 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEPN2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB028988.1 AF062084.1 AF062085.1 AK001491.1 AK001996.1 AK024115.1 AK092366.1 AK295652.1 
    AK298006.1 AK307455.1 BC015488.1 BC070036.1 BC093972.1 BC093974.1 BC143263.1 BC143264.1 

    12 DOTS entries:

    DT.95178212  DT.410574  DT.97796441  DT.100728205  DT.99934337  DT.100785108  DT.86857752  DT.91859993 
    DT.92044037  DT.99949166  DT.120962142  DT.99972911 

    24/195 AceView cDNA sequences (see all 195):

    BQ921164 AI497989 BM801830 BU956699 AL703213 AI880055 BF970948 BX334545 
    BQ636510 BU608533 F09099 BQ189257 AI953933 Z41748 BM993032 AK001996 
    NM_148921 N53895 CA421459 AW006239 F02547 AI652231 AI916322 BF525989 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for EPN2 (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18a ·
    SP1:                    -     -     -     -                                                     -                 -                             -               
    SP2:                    -     -     -     -                                   -                 -                 -                                             
    SP3:                                                                          -                 -                 -                             -               
    SP4:                    -     -     -     -     -     -     -     -     -     -                 -                 -                                             
    SP5:                    -     -     -                                                                                                                           

    ExUns: 18b ^ 19a · 19b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for EPN2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EPN2 Expression
    About this image


    See EPN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPN2

    SOURCE GeneReport for Unigene cluster: Hs.743983

    UniProtKB/Swiss-Prot: EPN2_HUMAN, O95208
    Tissue specificity: Highest expression is found in brain. Detected at lower levels in lung and liver

        SABiosciences Custom PCR Arrays for EPN2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPN2

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EPN2 gene from 10/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epn21 , 5 epsin 21, 5 86.02(n)1
    89.43(a)1
      11 (37.96 cM)5
    138551  NM_001252189.11  NP_001239118.11 
     615172495 
    chicken
    (Gallus gallus)
    Aves EPN21 epsin 2 77.27(n)
    84.31(a)
      416524  NM_001012788.1  NP_001012806.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPN26
    epsin 2
    75(a)
    1 ↔ 1
    GL343618.1(375450-397302)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.52902 Transcribed sequence with weak similarity to protein more 78.22(n)    141991236 
    zebrafish
    (Danio rerio)
    Actinopterygii epn21 epsin 2 67.64(n)
    71.48(a)
      560542  XM_681373.4  XP_686465.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta lqf6
    liquid facets
    27(a)
    possible ortholog
    3L(7521880-7533112)
    worm
    (Caenorhabditis elegans)
    Secernentea T04C10.2b3
    epn-11
    Yeast hypothetical protein L8167.6 like3
    Protein EPN-11
    37(a)
    (best of 2)3
    52.49(n)1
    49(a)1
      X(14851850-14853718)3
    1815771  NM_078058.21  NP_510459.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENT3(YJR125C)4 Protein containing an N-terminal epsin-like domain more   --   10(655963-654737) 853589  NP_012659.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G592901 clathrin interactor EPSIN 3 46.93(n)
    41.26(a)
      825098  NM_115791.2  NP_567079.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08066001 hypothetical protein 41.09(n)
    32.56(a)
      9268417  NM_001186265.1  NP_001173194.1 


    ENSEMBL Gene Tree for EPN2 (if available)
    TreeFam Gene Tree for EPN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPN2 gene
    CLINT12  EPN12  EPN32  ENTHD12  
    2 SIMAP similar genes for EPN2 using alignment to 17 protein entries:     EPN2_HUMAN (see all proteins):
    EPN3    EPN1

    EPN2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EPN2
    PGOHUM00000235037


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1711 SNPs in EPN2 are shown (see all 1711)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1442994351,2
    C--19002544(+) TCAAG-/TGAC  
            
    TGACT
    3 -- int10--------
    rs1995807241,2
    --19002554(+) GACTG-/TCTGCCT 3 -- int10--------
    rs750029691,2
    C--19002612(-) CTAAAC/TAGAGC 3 -- int10--------
    rs668857281,2
    C,F--19002642(+) TTTGGG/CAATTA 3 -- int16Minor allele frequency- C:0.45WA NA CSA 245
    rs1170741551,2
    C,F--19003192(+) GGCAGT/ATGTTG 3 -- int11Minor allele frequency- A:0.18NA 120
    rs620688601,2
    C--19003418(-) CGGCTC/TTTGGG 3 -- int14Minor allele frequency- T:0.00WA NA CSA 7
    rs1998288451,2
    F--19003534(+) CATCAA/TGAAGG 3 -- int11Minor allele frequency- T:0.00EU 1101
    rs2001813741,2
    C--19003561(+) GCGTTC/TTCTCC 3 -- int11Minor allele frequency- T:0.00EU 1149
    rs2007767691,2
    C--19003586(+) TACGGA/GGAGAA 3 -- int11Minor allele frequency- G:0.00EU 1095
    rs2008143291,2
    C--19003587(+) ACGGAG/AAGAAG 3 -- int11Minor allele frequency- A:0.00EU 1091

    HapMap Linkage Disequilibrium report for EPN2 (19118928 - 19240028 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for EPN2 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665186CNV Deletion23128226
    esv2715728CNV Deletion23290073
    esv2715730CNV Deletion23290073
    esv271226CNV Insertion20981092
    nsv833391CNV Loss17160897
    nsv2001CNV Loss18451855
    dgv3095n71CNV Gain21882294
    esv33572CNV Gain17666407
    nsv428336CNV Gain+Loss18775914
    nsv833393CNV Gain+Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607263    OMIM disorders: --

    2 diseases for EPN2:    About MalaCards
    alzheimer's disease    


    EPN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EPN2
    Human Genome Epidemiology (HuGE) Navigator: EPN2 (1 document)

    Export disorders for EPN2 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)
    About This Section

    PubMed articles for EPN2 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with EPN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module. (PubMed id 10567358)1, 2, 3, 9 Rosenthal J.A.... De Camilli P. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    6. Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)
    7. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    9. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22905 HGNC: 18639 AceView: EPN2 Ensembl:ENSG00000072134 euGenes: HUgn22905
    ECgene: EPN2 Kegg: 22905 H-InvDB: EPN2

    (According to HUGE)
    About This Section
    HUGE: KIAA1065

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPN2 gene:
    Search GeneIP for patents involving EPN2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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