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EPX Gene(Protein Coding)

Eosinophil Peroxidase

GCID:
GC17P058192
GIFtS:
48
Genes Participants
UDN Logo

Aliases for EPX Gene

Aliases for EPX Gene

  • Eosinophil Peroxidase 2 3 3 5
  • EPO 3 4
  • EPP 3 4
  • EC 1.11.1.7 4
  • EPX-PEN 3
  • EPXD 3
  • EPER 4

External Ids for EPX Gene

Previous GeneCards Identifiers for EPX Gene

  • GC17P056014
  • GC17P058751
  • GC17P056612
  • GC17P056744
  • GC17P053625
  • GC17P056270
  • GC17P051630

Summaries for EPX Gene

Entrez Gene Summary for EPX Gene

  • This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically 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 gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]

GeneCards Summary for EPX Gene

EPX (Eosinophil Peroxidase) is a Protein Coding gene. Diseases associated with EPX include Eosinophil Peroxidase Deficiency and Proctitis. Among its related pathways are Allograft rejection and Innate Immune System. Gene Ontology (GO) annotations related to this gene include heme binding and peroxidase activity. An important paralog of this gene is MPO.

UniProtKB/Swiss-Prot for EPX Gene

  • 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 Gene

Additional gene information for EPX Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPX Gene

Genomics for EPX Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPX Gene

Promoters and enhancers for EPX Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J057888 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -300.4 -300377 7.9 PKNOX1 FOXA2 SIN3A YBX1 FEZF1 DMAP1 ZNF2 IRF4 YY1 SLC30A9 SRSF1 CUEDC1 ENSG00000262298 MKS1 EPX SUPT4H1 VEZF1 ENSG00000264914 GC17P057856
GH17J057897 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -290.8 -290830 8.2 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 SRSF1 ENSG00000262298 MKS1 CUEDC1 TRIM25 EPX VEZF1 ENSG00000263004 OR4D2 ENSG00000264914
GH17J057934 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -256.1 -256107 4 HDGF FOXA2 MLX ARID4B NEUROD1 SIN3A ZBTB7B ZNF48 ETS1 ZNF121 MRPS23 EPX MKS1 CUEDC1 ENSG00000264914 GC17M057928
GH17J058249 Promoter/Enhancer 1.4 Ensembl ENCODE 10.4 +57.1 57095 1 CLOCK MLX ARID4B SIN3A DMAP1 ZBTB7B ZNF48 ZNF143 RUNX3 NFKBIZ MKS1 EPX LOC105371841 LPO MPO
GH17J057939 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -251.1 -251082 5.1 PKNOX1 IRF4 TCF12 ZNF121 EGR1 SCRT2 ZNF143 ATF7 FOS ETV6 EPX CUEDC1 ENSG00000264914 GC17M057928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPX gene promoter:
  • NRSF form 2
  • NRSF form 1
  • Nkx2-5
  • HNF-4alpha2
  • E2F
  • E2F-1
  • HNF-4alpha1
  • NF-1/L

Genomic Locations for EPX Gene

Genomic Locations for EPX Gene
chr17:58,192,728-58,205,174
(GRCh38/hg38)
Size:
12,447 bases
Orientation:
Plus strand
chr17:56,270,089-56,282,535
(GRCh37/hg19)
Size:
12,447 bases
Orientation:
Plus strand

Genomic View for EPX Gene

Genes around EPX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPX Gene

Proteins for EPX Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EPX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11678-PERE_HUMAN
    Recommended name:
    Eosinophil peroxidase
    Protein Accession:
    P11678
    Secondary Accessions:
    • Q4TVP3

    Protein attributes for EPX Gene

    Size:
    715 amino acids
    Molecular mass:
    81040 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=heme b; Xref=ChEBI:CHEBI:60344;
    Quaternary structure:
    • Tetramer of two light chains and two heavy chains.

neXtProt entry for EPX Gene

Protein Expression for EPX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EPX Gene

  • Glycosylation at Asn708, isoforms=700, isoforms=363, isoforms=327, Asn113, and isoforms=52
  • Modification sites at PhosphoSitePlus

Other Protein References for EPX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPX Gene

Domains & Families for EPX Gene

Gene Families for EPX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for EPX Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EPX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11678

UniProtKB/Swiss-Prot:

PERE_HUMAN :
  • Belongs to the peroxidase family. XPO subfamily.
Family:
  • Belongs to the peroxidase family. XPO subfamily.
genes like me logo Genes that share domains with EPX: view

Function for EPX Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EPX Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O.
GENATLAS Biochemistry:
eosinophil peroxidase

Enzyme Numbers (IUBMB) for EPX Gene

Phenotypes From GWAS Catalog for EPX Gene

Gene Ontology (GO) - Molecular Function for EPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 peroxidase activity IBA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EPX: view
genes like me logo Genes that share phenotypes with EPX: view

Animal Models for EPX Gene

MGI Knock Outs for EPX:
  • Epx Epx<tm1Nal>

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPX Gene

Localization for EPX Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPX Gene

Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPX gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 2
lysosome 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for EPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IBA --
GO:0034774 secretory granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with EPX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPX Gene

Pathways & Interactions for EPX Gene

genes like me logo Genes that share pathways with EPX: view

Pathways by source for EPX Gene

1 KEGG pathway for EPX Gene

Gene Ontology (GO) - Biological Process for EPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002215 defense response to nematode IEA --
GO:0006952 defense response IEA --
GO:0006979 response to oxidative stress IEA --
GO:0032693 negative regulation of interleukin-10 production IEA --
GO:0032714 negative regulation of interleukin-5 production IEA --
genes like me logo Genes that share ontologies with EPX: view

No data available for SIGNOR curated interactions for EPX Gene

Drugs & Compounds for EPX Gene

Products:

  1. Drug

(36) Drugs for EPX Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved, Vet_approved Nutra Antagonist, Full agonist, Agonist, Target, inhibitor Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 292
calcium Approved Nutra 0
Formaldehyde Approved, Vet_approved Pharma 102
Hydrogen peroxide Approved, Vet_approved Pharma 73
Water Approved Pharma 0

(38) Additional Compounds for EPX Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Phenylacetamide
  • alpha-Phenylacetamide
  • alpha-Toluamide
  • Benzeneacetamide
  • Phenyl-beta-acetylamine
  • Phenylacetamide
 103-81-1
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
 15438-31-0
methanol
  • Carbinol
  • CH3OH
  • MeOH
  • Methyl alcohol
  • Methylalkohol
 67-56-1
genes like me logo Genes that share compounds with EPX: view

Transcripts for EPX Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EPX Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPX Gene

Eosinophil peroxidase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPX Gene

No ASD Table

Relevant External Links for EPX Gene

GeneLoc Exon Structure for
EPX
ECgene alternative splicing isoforms for
EPX

Expression for EPX Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPX Gene

mRNA expression in normal human tissues for EPX Gene
mRNA expression by BioGPS for EPX GenemRNA expression by GTEx for EPX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPX Gene

This gene is overexpressed in Whole Blood (x28.7).

Protein differential expression in normal tissues from HIPED for EPX Gene

This gene is overexpressed in Neutrophil (54.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPX Gene



Protein tissue co-expression partners for EPX Gene

NURSA nuclear receptor signaling pathways regulating expression of EPX Gene:

EPX

SOURCE GeneReport for Unigene cluster for EPX Gene:

Hs.279259

Evidence on tissue expression from TISSUES for EPX Gene

  • Blood(4.6)
  • Lung(2.5)
  • Intestine(2.3)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with EPX: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPX Gene

Orthologs for EPX Gene

This gene was present in the common ancestor of animals.

Orthologs for EPX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EPX 34 33
  • 99.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPX 33
  • 86.15 (n)
mouse
(Mus musculus)
 Mammalia Epx 16 34 33
  • 85.71 (n)
rat
(Rattus norvegicus)
 Mammalia Epx 33
  • 85.01 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPX 34
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EPX 34
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 34
  • 59 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 61 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.12335 33
African clawed frog
(Xenopus laevis)
 Amphibia PMR-1 33
zebrafish
(Danio rerio)
 Actinopterygii mpx 33
  • 53.6 (n)
CU184832.2 34
  • 41 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG10211 35
  • 37 (a)
CG6879 35
  • 35 (a)
CG6969 35
  • 34 (a)
CG5873 35
  • 34 (a)
pxt 35
  • 29 (a)
CG8913 35
  • 25 (a)
Pxt 34
  • 24 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea F32A5.2a 35
  • 38 (a)
F32A5.2b 35
  • 38 (a)
ZK430.8 35
  • 35 (a)
C46A5.4 35
  • 34 (a)
F09F3.5 35
  • 31 (a)
R08F11.7 35
  • 30 (a)
K10B4.1 34 35
  • 17 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 33 (a)
 ManyToMany
Species where no ortholog for EPX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPX Gene

ENSEMBL:
Gene Tree for EPX (if available)
TreeFam:
Gene Tree for EPX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPX: view image

Paralogs for EPX Gene

Paralogs for EPX Gene

(5) SIMAP similar genes for EPX Gene using alignment to 1 proteins:

  • PERE_HUMAN
genes like me logo Genes that share paralogs with EPX: view

Variants for EPX Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for EPX Gene

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.

Sequence variations from dbSNP and Humsavar for EPX Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs121434566 affects, Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency (EPXD) [MIM:261500] 58,196,994(+) G/A coding_sequence_variant, missense_variant
rs141055426 affects, Eosinophil peroxidase deficiency 58,203,314(+) G/A coding_sequence_variant, missense_variant
rs2302313 likely-benign, Bardet-Biedl syndrome, Meckel-Gruber syndrome 58,205,665(+) G/A downstream_transcript_variant
rs386465709 uncertain-significance, Bardet-Biedl syndrome, Meckel-Gruber syndrome 58,205,610(+) G/A downstream_transcript_variant
rs397518446 affects, Eosinophil peroxidase deficiency 58,200,224(+) GGGGG/GGGGGG coding_sequence_variant, splice_acceptor_variant

Structural Variations from Database of Genomic Variants (DGV) for EPX Gene

Variant ID Type Subtype PubMed ID
nsv575797 CNV loss 21841781
nsv517229 CNV gain+loss 19592680
nsv457858 CNV loss 19166990

Variation tolerance for EPX Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.42; 92.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPX Gene

Human Gene Mutation Database (HGMD)
EPX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPX

SNP Genotyping and Copy Number Assay Products

Disorders for EPX Gene

MalaCards: The human disease database

(31) MalaCards diseases for EPX Gene - From: HGMD, OMIM, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
eosinophil peroxidase deficiency
  • epxd
proctitis
allergic rhinitis
  • alrh
hypereosinophilic syndrome
  • hypereosinophilic syndrome, idiopathic
conjunctival nevus
  • nevus of conjunctiva
- elite association - COSMIC cancer census association via MalaCards
Search EPX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PERE_HUMAN
  • 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. {ECO:0000269 PubMed:7809065}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EPX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPX: view

No data available for Genatlas for EPX Gene

Publications for EPX Gene

  1. Post-translational tyrosine nitration of eosinophil granule toxins mediated by eosinophil peroxidase. (PMID: 18694936) Ulrich M … Döring G (The Journal of biological chemistry 2008) 3 4 22 58
  2. Human eosinophil peroxidase induces surface alteration, killing, and lysis of Mycobacterium tuberculosis. (PMID: 12540536) Borelli V … Zabucchi G (Infection and immunity 2003) 3 4 22 58
  3. High contribution contrast between the genes of eosinophil peroxidase and IL-4 receptor alpha-chain in Japanese cedar pollinosis. (PMID: 14657871) Nakamura H … Eboshida A (The Journal of allergy and clinical immunology 2003) 3 4 22 58
  4. 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. (PMID: 10358043) Oxvig C … Sottrup-Jensen L (The Journal of biological chemistry 1999) 3 4 22 58
  5. Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. (PMID: 7809065) Romano M … Dri P (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58

Products for EPX Gene

Sources for EPX Gene

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