MPO
myeloperoxidase
Basic information
Region (hg38): 17:58269855-58280935
Links
Phenotypes
GenCC
Source:
- psoriasis 14, pustular (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Myeloperoxidase deficiency | AR | Allergy/Immunology/Infectious | Many individuals (including with complete myeloperoxidase deficiency) do not show obvious clinical sequelae, but increased candiasis and incidence of severe infections has been reported in some individuals, and awareness may allow prompt recognition and treatment, which may reduce morbidity and mortality | Allergy/Immunology/Infectious | 5796360; 4983030; 4109818; 6260268; 6267975; 6280744; 6321554; 2462938; 7904599; 15507752; 15108282; 17017121; 18453132; 17614858; 17650507; 23228855 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (84 variants)
- not_provided (29 variants)
- Myeloperoxidase_deficiency (24 variants)
- MPO-related_disorder (16 variants)
- Alzheimer_disease_type_1 (10 variants)
- Alzheimer_disease (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPO gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000250.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 12 | |||||
| missense | 86 | 11 | 104 | |||
| nonsense | 5 | |||||
| start loss | 0 | |||||
| frameshift | 6 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| Total | 5 | 14 | 87 | 20 | 4 |
Highest pathogenic variant AF is 0.00554476
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MPO | protein_coding | protein_coding | ENST00000225275 | 12 | 11080 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 7.11e-15 | 0.114 | 124319 | 3 | 1426 | 125748 | 0.00570 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.323 | 449 | 469 | 0.958 | 0.0000331 | 4800 |
| Missense in Polyphen | 163 | 186.89 | 0.87216 | 1932 | ||
| Synonymous | -0.0335 | 200 | 199 | 1.00 | 0.0000141 | 1545 |
| Loss of Function | 0.921 | 25 | 30.5 | 0.820 | 0.00000162 | 318 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00510 | 0.00505 |
| Ashkenazi Jewish | 0.0132 | 0.0133 |
| East Asian | 0.00180 | 0.00180 |
| Finnish | 0.00277 | 0.00222 |
| European (Non-Finnish) | 0.00921 | 0.00913 |
| Middle Eastern | 0.00180 | 0.00180 |
| South Asian | 0.000629 | 0.000588 |
| Other | 0.00327 | 0.00310 |
dbNSFP
Source:
- Function
- 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 in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. {ECO:0000269|PubMed:9922160}.;
- Disease
- DISEASE: Myeloperoxidase deficiency (MPOD) [MIM:254600]: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. {ECO:0000269|PubMed:7904599, ECO:0000269|PubMed:8142659, ECO:0000269|PubMed:8621627, ECO:0000269|PubMed:9354683, ECO:0000269|PubMed:9637725}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Acute myeloid leukemia - Homo sapiens (human);Phagosome - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Carbamazepine Pathway, Pharmacokinetics;Platinum Pathway, Pharmacokinetics/Pharmacodynamics;Etoposide Pathway, Pharmacokinetics/Pharmacodynamics;Etoposide Action Pathway;Teniposide Action Pathway;Teniposide Metabolism Pathway;Etoposide Metabolism Pathway;Selenium Micronutrient Network;Vitamin B12 Metabolism;Folate Metabolism;Benzene metabolism;Neutrophil degranulation;eicosanoid metabolism;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Purine metabolism;Innate Immune System;Immune System;C-MYB transcription factor network;IL23-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.902
Intolerance Scores
- loftool
- 0.862
- rvis_EVS
- -0.15
- rvis_percentile_EVS
- 42.3
Haploinsufficiency Scores
- pHI
- 0.424
- hipred
- N
- hipred_score
- 0.312
- ghis
- 0.402
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.875
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mpo
- Phenotype
- immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype;
Gene ontology
- Biological process
- response to yeast;hypochlorous acid biosynthetic process;respiratory burst involved in defense response;defense response;response to oxidative stress;aging;response to mechanical stimulus;removal of superoxide radicals;response to food;response to lipopolysaccharide;low-density lipoprotein particle remodeling;defense response to bacterium;hydrogen peroxide catabolic process;negative regulation of apoptotic process;neutrophil degranulation;negative regulation of growth of symbiont in host;defense response to fungus;oxidation-reduction process;response to gold nanoparticle
- Cellular component
- extracellular region;extracellular space;nucleus;cytoplasm;lysosome;secretory granule;azurophil granule lumen;azurophil granule;intracellular membrane-bounded organelle;extracellular exosome
- Molecular function
- chromatin binding;peroxidase activity;heparin binding;heme binding;metal ion binding