Gene Gene information from NCBI Gene database.
Entrez ID 4353
Gene name Myeloperoxidase
Gene symbol MPO
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q22
Summary Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heav
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs35897051 T>G Pathogenic Splice acceptor variant
rs78950939 T>C Pathogenic Missense variant, coding sequence variant
rs119468010 G>A Pathogenic Coding sequence variant, missense variant
rs119469012 A>C,G Pathogenic Coding sequence variant, missense variant
rs119469013 C>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
57
miRTarBase ID miRNA Experiments Reference
MIRT532437 hsa-miR-8485 PAR-CLIP 20371350
MIRT532436 hsa-miR-1324 PAR-CLIP 20371350
MIRT532435 hsa-miR-4716-5p PAR-CLIP 20371350
MIRT532437 hsa-miR-8485 PAR-CLIP 22012620
MIRT532436 hsa-miR-1324 PAR-CLIP 22012620
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
RUNX1 Unknown 11023523
SP1 Activation 17521322;8662930
SP1 Unknown 12057865
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0001878 Process Response to yeast IEA
GO:0002149 Process Hypochlorous acid biosynthetic process IEA
GO:0002679 Process Respiratory burst involved in defense response IEA
GO:0003682 Function Chromatin binding TAS 2829220
GO:0004601 Function Peroxidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606989 7218 ENSG00000005381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05164
Protein name Myeloperoxidase (MPO) (EC 1.11.2.2) [Cleaved into: Myeloperoxidase; 89 kDa myeloperoxidase; 84 kDa myeloperoxidase; Myeloperoxidase light chain; Myeloperoxidase heavy chain]
Protein function Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid
PDB 1CXP , 1D2V , 1D5L , 1D7W , 1DNU , 1DNW , 1MHL , 1MYP , 3F9P , 3ZS0 , 3ZS1 , 4C1M , 4DL1 , 4EJX , 5FIW , 5MFA , 5UZU , 6AZP , 6BMT , 7OIH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03098 An_peroxidase 173 718 Animal haem peroxidase Domain
Sequence
Sequence length 745
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
52
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic rs762526880 RCV005922469
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer disease type 1 Likely pathogenic; Pathogenic rs119468010, rs762526880 RCV002490304
RCV002503272
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MPO-related disorder Likely pathogenic; Pathogenic rs754632893, rs119468010, rs536522394, rs119469014 RCV003416446
RCV003415644
RCV003952340
RCV003894789
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myeloperoxidase deficiency Likely pathogenic; Pathogenic rs754632893, rs181494077, rs119468010, rs536522394, rs119469012, rs119469013, rs119469014, rs773478778, rs1970491995, rs762933005, rs762526880 RCV001784671
RCV001784672
RCV000003810
RCV000003813
RCV000003815
View all (6 more)
★★★★★
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 Evidence Score
Alzheimer disease Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE, FAMILIAL, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 27666673, 30926484
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 15023809
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 12952835
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19877306, 25164947, 28491088, 29572498, 29594375, 29618370, 30456985, 30889221, 31053235, 31341419
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 20623750
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10363160, 16298822, 17479404, 2173803, 22261446, 2553160, 27392123, 28625325, 29441563, 7493141, 7866270, 8118606, 8269279, 8396697, 8501986
View all (3 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10025890, 11167741, 11774269, 12041882, 1707229, 19593802, 2166608, 2170780, 2458150, 28340210, 29244249, 3031662, 8152261, 8394481, 8955614
View all (3 more)
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 2164321, 2541607, 2545574
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10446492, 11835327, 16457884, 17763467, 21674360, 29200171
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 10391105, 11337024, 17763467, 8980370
★☆☆☆☆
Found in Text Mining only