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EPX Gene

protein-coding   GIFtS: 63
GCID: GC17P056270

Eosinophil Peroxidase

  See EPX-related diseases
at  

(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
Eosinophil Peroxidase1 2     EPX-PEN2
EPO2 3     EPER3
EPP2 3     EC 1.11.18
EC 1.11.1.73 8     

External Ids:    HGNC: 34231   Entrez Gene: 82882   Ensembl: ENSG000001210537   OMIM: 1313995   UniProtKB: P116783   

Export aliases for EPX gene to outside databases

Previous GC identifers: GC17P056014 GC17P058751 GC17P056612 GC17P056744 GC17P053625 GC17P051630


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EPX Gene:
This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded precursor protein
is processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an
oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of
protozoa or parasitic worms. The gene is found in a cluster of three peroxidase genes at chromosome 17q23.
Mutations in this gene result in eosinophil peroxidase deficiency. (provided by RefSeq, Sep 2009)

GeneCards Summary for EPX Gene:
EPX (eosinophil peroxidase) is a protein-coding gene. Diseases associated with EPX include urinary schistosomiasis, and eosinophil peroxidase deficiency. GO annotations related to this gene include peroxidase activity and heme binding. An important paralog of this gene is LPO.

UniProtKB/Swiss-Prot: PERE_HUMAN, P11678
Function: Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows
significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and
lysis

Gene Wiki entry for EPX (Eosinophil peroxidase) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPX gene promoter:
         NF-1/L   E2F-1   E2F   NRSF form 1   HNF-4alpha2   Nkx2-5   NRSF form 2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPX promoter sequence
   Search Chromatin IP Primers for EPX

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


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

Entrez Gene cytogenetic band: 17q23.1   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q23.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P056270:  view genomic region     (about GC identifiers)

Start:
56,270,089 bp from pter      End:
56,282,535 bp from pter
Size:
12,447 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PERE_HUMAN, P11678 (See protein sequence)
Recommended Name: Eosinophil peroxidase precursor  
Size: 715 amino acids; 81040 Da
Cofactor: Binds 1 calcium ion per heterodimer (By similarity)
Cofactor: Binds 1 heme B (iron-protoporphyrin IX) covalently through ester linkages to hydroxylated methyl groups
formed auto-catalytically with hydrogen peroxide at the heme C-1 and C-5 positions. The ester linkage to Asp-232
was observed in 30% of the chains
Subunit: Tetramer of two light chains and two heavy chains
Secondary accessions: Q4TVP3

Explore the universe of human proteins at neXtProt for EPX: NX_P11678

Explore proteomics data for EPX at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn52, Asn113, Asn327, Asn363, Asn700, Asn708
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EPX (P11678) (see all 6)
     RDGDRFW  PCFLAGD  LMFMQWGQ  RFQDNGRAL 


    See EPX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000493.1  
    ENSEMBL proteins: 
     ENSP00000225371  

    EPX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for EPX
    GenScript Custom Purified and Recombinant Proteins Services for EPX
    Novus Biologicals EPX Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPX

     
    Search eBioscience for Proteins for EPX 

    EPX Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPX
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EPX
    Novus Biologicals EPX Antibodies
    Abcam antibodies for EPX
    Cloud-Clone Corp. Antibodies for EPX
    Search ThermoFisher Antibodies for EPX
    LSBio Antibodies in human, mouse, rat for EPX

    EPX Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPX
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPX
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPX
    Cloud-Clone Corp. CLIAs for EPX
    Search eBioscience for ELISAs for EPX 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR010255 Haem_peroxidase
     IPR019791 Haem_peroxidase_animal_subgr
     IPR002007 Haem_peroxidase_animal

    Graphical View of Domain Structure for InterPro Entry P11678

    ProtoNet protein and cluster: P11678

    2 Blocks protein domains:
    IPB002007 Animal haem peroxidase signature
    IPB010255 Haem peroxidase


    UniProtKB/Swiss-Prot: PERE_HUMAN, P11678
    Similarity: Belongs to the peroxidase family. XPO subfamily


    Find genes that share domains with EPX           About GenesLikeMe


    (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,
    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: PERE_HUMAN, P11678
    Function: Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows
    significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and
    lysis
    Catalytic activity: 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O

         Genatlas biochemistry entry for EPX:
    eosinophil peroxidase

         Enzyme Numbers (IUBMB): EC 1.11.1.71 2 EC 1.11.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601peroxidase activity IEA--
    GO:0020037heme binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with EPX           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Epx):
     hematopoietic system  immune system 

    Find genes that share phenotypes with EPX           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Epxtm1Nal for EPX

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EPX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPX

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat EPX using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate EPX:
    hsa-miR-379 hsa-miR-520f hsa-miR-298 hsa-miR-1976
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EPX
    Predesigned siRNA for gene silencing in human, mouse, rat EPX

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

    Clone
    Products:
         
    OriGene clones in human, mouse for EPX (see all 6)
    OriGene ORF clones in mouse, rat for EPX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPX (NM_000502)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPX

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPX
    Browse ESI BIO Cell Lines and PureStem Progenitors for EPX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPX


    (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
    PERE_HUMAN, P11678: Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    lysosome2
    plasma membrane2
    vacuole2
    nucleus1

    (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 EPX About    
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Asthma0.46


    Find genes that share SuperPaths with EPX           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EPX
        Erythropoietin Pathway
    HIF1Alpha Pathway
    JAK-STAT Pathway


    1 Kegg Pathway  (Kegg details for EPX):
        Asthma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EPX: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EPX

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for EPX (P116783 ENSP000002253714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    NCK1P163333, ENSP000002889864I2D: score=1 STRING: ENSP00000288986
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002215defense response to nematode IEA--
    GO:0006979response to oxidative stress ----
    GO:0032693negative regulation of interleukin-10 production IEA--
    GO:0032714negative regulation of interleukin-5 production IEA--
    GO:0032753positive regulation of interleukin-4 production IEA--

    Find genes that share ontologies with EPX           About GenesLikeMe



    (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 EPX (PERE)

    Selected HMDB Compounds for EPX (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-PhenylacetamideBenzeneacetamide (see all 10)103-81-1--
    4-Coumaryl alcohol3-(4-Hydroxyphenyl)-1-propane (see all 12)1076-38-6--
    CalciumCa (see all 2)7440-70-2--
    Cyanosulfurous acid anionCNSu;cyanosulfurous acid ----
    FormaldehydeAldeide formica (see all 16)50-00-0--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    IronArmco iron (see all 19)7439-89-6--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    MethanolAlcool methylique (see all 23)67-56-1--

    1 DrugBank Compound for EPX    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MelatoninMEL (see all 4)73-31-4targetinhibitor18516076

    Selected Novoseek inferred chemical compound relationships for EPX gene (see all 64)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hobr 88.2 23 2002037 (4), 1985118 (3), 16166591 (1), 8860070 (1) (see all 10)
    lte4 72.7 24 11106196 (5), 11551254 (3), 9761018 (2), 9824404 (2) (see all 8)
    fml 72.5 6 8301549 (3), 7752089 (1)
    hocl 66 9 16166591 (1), 1985118 (1), 19708016 (1), 10464338 (1) (see all 5)
    bromide 65.1 27 8860070 (2), 2154520 (2), 18516076 (2), 8825615 (1) (see all 11)
    ltc4 62.6 16 8387540 (4), 7887808 (3), 8301549 (3), 1334102 (2) (see all 7)
    cytochalasin b 62.4 36 8301549 (4), 8049081 (3), 7752089 (2), 8498524 (2) (see all 12)
    fmlp 62.1 30 9425641 (3), 8049081 (3), 9482706 (3), 17206716 (2) (see all 14)
    thiocyanate 62 8 2154520 (2), 8825615 (1), 15894800 (1), 11112545 (1) (see all 5)
    histamine 55.9 34 10380774 (4), 9186539 (3), 7514197 (3), 11015298 (3) (see all 18)



    Find genes that share compounds with EPX           About GenesLikeMe



    (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 EPX gene: 
    NM_000502.4  

    Unigene Cluster for EPX:

    Eosinophil peroxidase
    Hs.279259  [show with all ESTs]
    Unigene Representative Sequence: NM_000502
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000225371(uc002ivq.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EPX using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate EPX:
    hsa-miR-379 hsa-miR-520f hsa-miR-298 hsa-miR-1976
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EPX
    Predesigned siRNA for gene silencing in human, mouse, rat EPX
    Clone
    Products:
         
    OriGene clones in human, mouse for EPX (see all 6)
    OriGene ORF clones in mouse, rat for EPX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPX (NM_000502)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPX
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for EPX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPX
      QuantiTect SYBR Green Assays in human, mouse, rat EPX
      QuantiFast Probe-based Assays in human, mouse, rat EPX

    Additional mRNA sequence: X14346.1 

    2 DOTS entries:

    DT.106307  DT.100742357 

    16 AceView cDNA sequences:

    AW950277 BF901945 BX280635 BX644277 AL597635 BX953021 NM_000502 X14346 
    T28019 AJ705406 W92864 AJ706023 AJ706564 AW468162 W92863 AW027066 

    GeneLoc Exon Structure


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


    EPX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Eosinophils Peripheral Blood
             bone marrow   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             bone marrow   
     
     Thymus (Hematopoietic System)
    EPX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279259
        Pathway & Disease-focused RT2 Profiler PCR Arrays including EPX: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Allergy & Asthma in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EPX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPX
    QuantiTect SYBR Green Assays in human, mouse, rat EPX
    QuantiFast Probe-based Assays in human, mouse, rat EPX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPX

    (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.

    Orthologs for EPX gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epx1 , 5 eosinophil peroxidase1, 5 85.71(n)1
    89.5(a)1
      11 (52.25 cM)5
    138611  NM_007946.21  NP_031972.21 
     878640005 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    59(a)
    1 → many
    19(410358-421656)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    61(a)
    1 → many
    AAWZ02037755(870-14726)
    African clawed frog
    (Xenopus laevis)
    Amphibia PMR-12 polysomal ribonuclease 1 74.17(n)    U68724.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpx1 myeloid-specific peroxidase 53.6(n)
    51.09(a)
      337514  NM_212779.1  NP_997944.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102113 peroxidase 37(a)
    (best of 6)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F32A5.2a3 Peroxidase 38(a)
    (best of 7)
      II(7245851-7249911)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EPX gene
    LPO2  TPO2  PXDNL2  PXDN2  MPO2  
    5 SIMAP similar genes for EPX using alignment to 1 protein entry:     PERE_HUMAN:
    MPO    LPO    TPO    PXDN    PXDNL

    Find genes that share paralogs with EPX           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    PERE_HUMAN, P11678: Allelic variant in EPX is associated with Japanese cedar pollinosis which is a type I allergic
    disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These
    symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing,
    excessive nasal secretion, nasal congestion, and conjunctival itching


    Selected SNPs for EPX (see all 478)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345661,2,,4
    CEosinophil peroxidase deficiency (EPXD)4 pathogenic157289856(+) CTTCCG/ACTCGG 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs353520021,2
    C,F--56273060(+) CACAC-/ACGTGCA 1 -- int15Minor allele frequency- AC:0.05NS 180
    rs339545891,2
    C,F--56273301(+) CCTTC-/CTTC  
            
    TTCCT
    1 -- int15Minor allele frequency- CTTC:0.33NS 146
    rs344152231,2
    C,F--56274781(+) CGTTG-/GAGTCC 1 -- int17Minor allele frequency- G:0.39NS CSA 180
    rs352097041,2
    C,F--56280870(+) AAGGCC/GCATAT 1 -- int16Minor allele frequency- G:0.05NS WA 288
    rs80774261,2
    C,F,A,H--56280957(+) CATGGG/ACAGAA 1 -- int123Minor allele frequency- A:0.22NS EA NA WA CSA 2510
    rs1123573711,2
    C,F--56280975(+) AATCTG/AGTTTC 1 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs1127091721,2
    C--56281177(+) AGTCCC/TGGCTA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs80787071,2
    C,F--56281249(+) GATCCT/CGCCAC 1 -- int14Minor allele frequency- C:0.25NA WA 8
    rs2005159541,2
    C--56281332(-) CAGGTC/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for EPX (56270089 - 56282535 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EPX:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv457858CNV Loss19166990
    nsv517229CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): EPX
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPX
    DNA2.0 Custom Variant and Variant Library Synthesis for EPX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 131399   
    OMIM disorders: 261500  
    UniProtKB/Swiss-Prot: PERE_HUMAN, P11678
  • Eosinophil peroxidase deficiency (EPXD) [MIM:261500]: A rare abnormality without clinical symptoms
    characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in
    eosinophils. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for EPX:    
    About MalaCards
    urinary schistosomiasis    eosinophil peroxidase deficiency    proctitis    endocarditis
    inflammatory bowel disease 4    chronic rhinitis    onchocerciasis    pulmonary eosinophilia
    collagenous colitis    food allergy    eosinophilia    hypereosinophilic syndrome
    allergic rhinitis    schistosomiasis    rhinitis    atopy
    asthma

    4 diseases from the University of Copenhagen DISEASES database for EPX:
    Asthma     Eosinophilia     Allergic rhinitis     Hypersensitivity reaction type I disease

    Find genes that share disorders with EPX           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EPX gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asthma 69.2 67 10520077 (5), 9556008 (4), 10212854 (3), 11106196 (3) (see all 26)
    eosinophilia 66.7 7 7534262 (2), 2217619 (1), 1847158 (1), 11169280 (1)
    asthma childhood 57.1 5 8221257 (1), 10383593 (1), 10336595 (1), 10445617 (1) (see all 5)
    inflammation 56.7 35 10520078 (2), 10520077 (2), 15257469 (2), 11106196 (2) (see all 27)
    hypereosinophilic syndrome 53.8 1 9785914 (1)
    asthma allergic 51.8 6 8648010 (2), 10090740 (1), 11106196 (1), 9510666 (1) (see all 5)
    allergy food 48.7 3 10520078 (2), 9052525 (1)
    allergy 47.8 6 8492464 (1), 11340681 (1), 18516076 (1), 11551254 (1) (see all 6)
    pulmonary eosinophilia 46.1 1 8818342 (1)
    allergic rhinitis 45.5 4 19439985 (2), 19133919 (1), 11520718 (1)

    Genetic Association Database (GAD): EPX
    Human Genome Epidemiology (HuGE) Navigator: EPX (2 documents)

    Export disorders for EPX 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

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    PubMed articles for EPX gene, integrated from 10 sources (see all 287):
    (articles sorted by number of sources associating them with EPX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human eosinophil peroxidase. Evidence for the existence of a peroxidase multigene family. (PubMed id 2541222)1, 2, 3 Ten R.M.... Gleich G.J. (J. Exp. Med. 1989)
    2. Molecular cloning and characterization of a chromosomal gene for human eosinophil peroxidase. (PubMed id 2550461)1, 2, 3 Sakamaki K.... Nagata S. (J. Biol. Chem. 1989)
    3. Post-translational tyrosine nitration of eosinophil granule toxins mediated by eosinophil peroxidase. (PubMed id 18694936)1, 2, 9 Ulrich M....Doering G. (J. Biol. Chem. 2008)
    4. Human eosinophil peroxidase induces surface alteration, killing, and lysis of Mycobacterium tuberculosis. (PubMed id 12540536)1, 2, 9 Borelli V.... Zabucchi G. (Infect. Immun. 2003)
    5. High contribution contrast between the genes of eosinophil peroxidase and IL-4 receptor alpha-chain in Japanese cedar pollinosis. (PubMed id 14657871)1, 2, 9 Nakamura H.... Eboshida A. (J. Allergy Clin. Immunol. 2003)
    6. Biochemical evidence for heme linkage through esters with Asp-93 and Glu-241 in human eosinophil peroxidase. The ester with Asp-93 is only partially formed in vivo. (PubMed id 10358043)1, 2, 9 Oxvig C.... Sottrup-Jensen L. (J. Biol. Chem. 1999)
    7. Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. (PubMed id 7809065)1, 2, 9 Romano M.... Dri P. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    8. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    9. Analysis of the mechanism by which melatonin inhibits human eosinophil peroxidase. (PubMed id 18516076)7, 9 Lu T....Abu-Soud H.M. (Br. J. Pharmacol. 2008)
    10. Association of single nucleotide polymorphisms in the eosinophil peroxidase gene with allergic rhinitis in the Czech population. (PubMed id 19439985)1, 9 Hrdlickova B. and Izakovicova-Holla L. (Int. Arch. Allergy Immunol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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

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    Entrez Gene: 8288 HGNC: 3423 AceView: EPX Ensembl:ENSG00000121053 euGenes: HUgn8288
    ECgene: EPX Kegg: 8288 H-InvDB: EPX

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for EPX Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/epx/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for EPX gene:
    Search GeneIP for patents involving EPX

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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