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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Asthma Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Eosinophil peroxidase deficiency Affects; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (577)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 7736428
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 20832699, 31189189
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 17429338
★★★★★
★☆☆☆☆
Found in Text Mining only
Acquired Polyneuropathy Polyneuropathy CTD_human_DG 17010629
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10369674, 11843291, 12667989, 1314735, 16598306, 18059484, 19584401, 19665053, 20445019, 2175917, 27465156, 30030607, 3032937, 3498522, 7994027
View all (4 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 21847101, 24561306
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19010836, 21078205
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 16598306, 1728307
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 3801669
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15709164, 30854109
★★★★★
★☆☆☆☆
Found in Text Mining only