HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MPEG1
macrophage expressed 1
Chromosome 11 · 11q12.1
NCBI Gene: 219972Ensembl: ENSG00000197629.7HGNC: HGNC:29619UniProt: Q2M385
22PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
defense response to Gram-positive bacteriumcytoplasmic vesiclewide pore channel activitydefense response to bacteriumimmunodeficiency 77primary ciliary dyskinesiapremature birthcomplex regional pain syndrome
✦AI Summary

MPEG1 (macrophage expressed 1), also known as Perforin-2, is an ancient pore-forming protein belonging to the MACPF/CDC superfamily that serves as a critical intracellular immune effector 1. In dendritic cells, MPEG1 mediates antigen cross-presentation by forming pores in antigen-containing compartments, promoting antigen release into the cytosol for MHC class I presentation and CD8+ T-cell priming 2. Within phagocytes, MPEG1 functions as a pivotal bactericidal molecule that destroys phagocytosed gram-positive and gram-negative bacteria; MPEG1-deficient mice demonstrate increased susceptibility to infectious doses that wild-type mice survive 3. MPEG1 expression is upregulated by proinflammatory signals including TNFα and LPS, and requires low pH environments such as phagosomes for pore formation 1. Clinically, germline MPEG1 mutations cause Immunodeficiency 77 and are associated with recurrent pulmonary mycobacterial infections in humans 3. MPEG1 mutations have also been identified in diffuse large B-cell lymphoma subtyping algorithms, where the MCD-like genetic subtype containing MPEG1 mutations associates with poor prognosis and NF-κB activation 4. Additionally, MPEG1 shows promise as a diagnostic biomarker in dendritic cell-mediated immune responses relevant to IgA nephropathy 2. Evolutionarily, MPEG1 represents one of the oldest MACPF proteins, predating perforin from which it likely originated ~500 million years ago 5.

Sources cited
1
MPEG1 is an ancient MACPF/CDC pore-forming protein; loss of MPEG1 increases susceptibility to microbial infection; expression upregulated by TNFα and LPS; germline mutations linked to recurrent pulmonary mycobacterial infections
PMID: 33178209
2
MPEG1/Perforin-2 is pivotal for phagocyte bactericidal function; MPEG1 knockout mice succumb to infectious doses wild-type mice survive; requires low pH for pore formation; mutations cause immunodeficiency
PMID: 33692780
3
MPEG1 identified as hub gene associated with dendritic cell immunity; relevant to diagnostic biomarkers for DC-related immune responses
PMID: 40336063
4
MPEG1 mutations identified in MCD-like DLBCL genetic subtype, associated with poor prognosis and NF-κB activation
PMID: 37032379
5
MPEG1 is an ancient gene; perforin evolved from MPEG1 duplication approximately 500 million years ago
PMID: 22551122
Disease Associationsⓘ21
immunodeficiency 77Open Targets
0.70Strong
primary ciliary dyskinesiaOpen Targets
0.33Weak
premature birthOpen Targets
0.30Weak
complex regional pain syndromeOpen Targets
0.22Weak
diabetic ketoacidosisOpen Targets
0.22Weak
Castleman-Kojima diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
neuroblastomaOpen Targets
0.07Suggestive
medulloblastomaOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.05Suggestive
osteosarcomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.05Suggestive
glioblastomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Immunodeficiency 77UniProt
Pathogenic Variants2
NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter)Pathogenic
Immunodeficiency 77
☆☆☆☆2021→ Residue 398
NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)Pathogenic
Primary ciliary dyskinesia 3
☆☆☆☆→ Residue 325
View on ClinVar ↗
Related Genes
PRF1Protein interaction83%DEFB136Shared pathway67%LALBAShared pathway43%DEFB103AShared pathway40%DEFB119Shared pathway40%LYZShared pathway38%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
80%
Heart
42%
Liver
17%
Brain
11%
Ovary
6%
Gene Interaction Network
Click a node to explore
MPEG1PRF1DEFB136LALBADEFB103ADEFB119LYZ
PROTEIN STRUCTURE
Preparing viewer…
PDB6U2J · 2.37 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.78 [0.62–1.94]
RankingsWhere MPEG1 stands among ~20K protein-coding genes
  • #13,700of 20,598
    Most Researched22
  • #4,547of 5,498
    Most Pathogenic Variants2
  • #17,596of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedMPEG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
PMID: 37032379
Signal Transduct Target Ther · 2023
1.00
2
IKZF1 as a potential therapeutic target for dendritic cell-mediated immunotherapy in IgA nephropathy.
PMID: 40336063
Cell Commun Signal · 2025
0.90
3
Ancient but Not Forgotten: New Insights Into MPEG1, a Macrophage Perforin-Like Immune Effector.
PMID: 33178209
Front Immunol · 2020
0.80
4
Perforin-2/Mpeg1 and other pore-forming proteins throughout evolution.
PMID: 26307549
J Leukoc Biol · 2015
0.70
5
Breaching the Bacterial Envelope: The Pivotal Role of Perforin-2 (MPEG1) Within Phagocytes.
PMID: 33692780
Front Immunol · 2021
0.60