MPO

myeloperoxidase

Basic information

Region (hg38): 17:58269855-58280935

Links

ENSG00000005381 ∙ NCBI:4353 ∙ OMIM:606989 ∙ HGNC:7218 ∙ Uniprot:P05164 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

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 ClinVar and linked to the MPO gene.

• Myeloperoxidase deficiency (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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				9	2	11
missense		3	46	4	2	55
nonsense	1	3				4
start loss						0
frameshift		2				2
inframe indel			1			1
splice donor/acceptor (+/-2bp)		3				3
splice region				1	2	3
non coding				1		1
Total	1	11	47	14	4

Highest pathogenic variant AF is 0.0000131

Variants in MPO

This is a list of pathogenic ClinVar variants found in the MPO region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-58270707-G-A		Myeloperoxidase deficiency;Alzheimer disease type 1 • MPO-related disorder	Benign/Likely benign (Dec 23, 2021)
17-58270712-C-A		not specified	Uncertain significance (Dec 13, 2022)
17-58270720-C-T		not specified	Uncertain significance (Aug 04, 2024)
17-58270760-C-T		not specified	Uncertain significance (May 30, 2024)
17-58270761-G-A			Benign (Jun 06, 2018)
17-58270769-T-A		not specified	Uncertain significance (Dec 13, 2022)
17-58270781-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-58270822-C-T		Alzheimer disease type 1	Uncertain significance (May 20, 2023)
17-58270847-C-G			Uncertain significance (-)
17-58270865-T-G		Myeloperoxidase deficiency • MPO-related disorder • Myeloperoxidase deficiency;Alzheimer disease type 1 • not specified	Conflicting classifications of pathogenicity (Nov 16, 2024)
17-58270869-T-G		not specified • MPO-related disorder	Benign (Mar 28, 2016)
17-58271689-C-G		not specified	Uncertain significance (Nov 05, 2021)
17-58271701-C-T		not specified	Uncertain significance (Sep 15, 2021)
17-58271712-C-T		not specified	Uncertain significance (Apr 28, 2023)
17-58271716-C-A		not specified	Uncertain significance (Jun 01, 2022)
17-58271734-G-A		MPO-related disorder	Likely benign (Jan 08, 2024)
17-58271749-C-T		not specified	Uncertain significance (Apr 26, 2024)
17-58271750-G-A			Likely benign (Oct 01, 2022)
17-58271761-T-G		MPO-related disorder	Likely benign (Jan 31, 2024)
17-58271767-T-A		not specified	Uncertain significance (Jan 19, 2022)
17-58271767-T-C		not specified	Uncertain significance (Oct 18, 2021)
17-58271837-C-A		not specified	Uncertain significance (Oct 19, 2024)
17-58271870-G-T		not specified	Uncertain significance (Oct 16, 2023)
17-58271875-G-A			Likely benign (Feb 25, 2018)
17-58272757-C-T		Myeloperoxidase deficiency	Pathogenic (Apr 15, 2019)

GnomAD

Source: gnomAD

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: dbNSFP

• 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