Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8288
Gene name Gene Name - the full gene name approved by the HGNC.
Eosinophil peroxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPX
Synonyms (NCBI Gene) Gene synonyms aliases
EPO, EPP, EPX-PEN, EPXD
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q22
Summary Summary of gene provided in NCBI Entrez 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 enzym
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
131399 3423 ENSG00000121053
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
eosinophil peroxidase deficiency Eosinophil peroxidase deficiency N/A N/A ClinVar
Associations from Text Mining Disease 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