MPEG1

Chr 11AD

macrophage expressed 1

Also known as: IMD77, MPG1, MPS-1, MPS1, Mpg-1, P-2, P2

NCBI Gene: 219972 ENSG00000197629 UniProt: Q2M385 OMIM: 610390

Enables wide pore channel activity. Involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Located in cytoplasmic vesicle. Is active in phagolysosome membrane. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 77MIM #619223

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Immunodeficiency 77; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.63

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.63LOEUF

pLI 0.000

Z-score -0.61

OE 1.15 (0.82–1.63)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.05Z-score

OE missense 1.01 (0.93–1.10)

390 obs / 387.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.15 (0.82–1.63)

0≤0.351.4

Missense OE?1.01 (0.93–1.10)

0≤0.61.4

Synonymous OE?1.22

0≤1.21.6

LoF obs/exp: 22 / 19.1Missense obs/exp: 390 / 387.1Syn Z: -2.21

Background carrier burden — how many people carry a rare variant somewhere in MPEG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 47

943 rare PASS variants

Rare truncating (LoF)

1 in 660

113 rare PASS variants

Rare synonymous (reference)

1 in 81

390 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MPEG1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 63	1 in 840
South Asian	~43k	1 in 48	1 in 480
Remaining (unassigned)	~30k	1 in 49	1 in 600
European (Finnish)	~27k	1 in 130	≈ 1 in 13,000
Admixed American	~22k	1 in 49	1 in 620
African / African American	~21k	1 in 42	1 in 1,400
East Asian	~20k	1 in 69	1 in 790
Ashkenazi Jewish	~13k	1 in 180	1 in 1,900
Middle Eastern	~2,884	1 in 56	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓