Gene Gene information from NCBI Gene database.
Entrez ID 8288
Gene name Eosinophil peroxidase
Gene symbol EPX
Synonyms (NCBI Gene)
EPOEPPEPX-PENEPXD
Chromosome 17
Chromosome location 17q22
Summary 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 enzym
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121434566 G>A Affects Coding sequence variant, missense variant
rs141055426 G>A Affects Coding sequence variant, missense variant
rs397518446 ->G Affects Splice acceptor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT612223 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT612222 hsa-miR-6756-3p HITS-CLIP 19536157
MIRT612221 hsa-miR-6780b-3p HITS-CLIP 19536157
MIRT612220 hsa-miR-6734-3p HITS-CLIP 19536157
MIRT612219 hsa-miR-6826-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0002215 Process Defense response to nematode IEA
GO:0004601 Function Peroxidase activity IBA
GO:0004601 Function Peroxidase activity IEA
GO:0004601 Function Peroxidase activity TAS 10386597
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131399 3423 ENSG00000121053
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11678
Protein name Eosinophil peroxidase (EPO) (EC 1.11.1.7) [Cleaved into: Eosinophil peroxidase light chain; Eosinophil peroxidase heavy chain]
Protein 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. {ECO:0000269|PubMed:12540536,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03098 An_peroxidase 145 689 Animal haem peroxidase Domain
Sequence
Sequence length 715
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Asthma   Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Eosinophil peroxidase deficiency Affects; Likely benign rs141055426, rs121434566, rs397518446, rs34599426 RCV000190420
RCV000018090
RCV000018091
RCV002488045
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 29692868, 30876376, 31300640, 38551536
Colitis Ulcerative Associate 39891110
Colorectal Neoplasms Associate 22531693
Deglutition Disorders Associate 26051952
Diabetic Nephropathies Associate 34545296
Eosinophilia Associate 2541222, 31300640
Eosinophilic Esophagitis Associate 39343172
Inflammatory Bowel Diseases Associate 23197886
Presentey Anomaly Associate 10848988
Rectal Neoplasms Associate 22531693