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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MMD2
monocyte to macrophage differentiation associated 2
Chromosome 7 · 7p22.1
NCBI Gene: 221938Ensembl: ENSG00000136297.17HGNC: HGNC:30133UniProt: Q8IY49
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
perinuclear region of cytoplasmregulation of protein localizationpositive regulation of neuron differentiationpositive regulation of protein kinase activitytricuspid valve diseaseplacental retentionhypertensionDown syndrome
✦AI Summary

MMD2 (monocyte to macrophage differentiation associated 2) is a member of the progestin and adipoQ receptor (PAQR) family with critical roles in immune cell function and innate immunity. MMD2 localizes to the Golgi apparatus and perinuclear cytoplasm 1, where it regulates protein kinase activity and Ras/ERK signaling pathways 1. The protein is expressed during testis development and operates downstream of known sex-determining genes 2, though functional redundancy within the PAQR family may limit its individual developmental requirement 2. Clinically, MMD2 dysfunction has significant pathological consequences. Monoallelic mutations in MMD2 (p.A116V and p.R126P) cause autosomal dominant aggressive periodontitis by impairing fMLP-induced neutrophil chemotaxis and Ras/ERK activation, leading to alveolar bone loss 1. Additionally, MMD2 upregulation promotes malignancy in gastric and breast cancers through dysregulation of the miR-509-3p and miR-1270 pathways, respectively 32. In lung cancer, MMD2 expression correlates with tumor microenvironment composition and serves as a biomarker for prognosis and immunotherapy response 4. These findings establish MMD2 as an important regulator of innate immunity and a potential therapeutic target in inflammatory and malignant diseases.

Sources cited
1
MMD2 mutations impair fMLP-induced Ras/ERK signaling and neutrophil chemotaxis, causing aggressive periodontitis; MMD2 localizes to Golgi apparatus
PMID: 40663042
2
MMD2 is expressed during sex determination and operates downstream of Sox9 and Nr5a1; functional redundancy within PAQR family may limit individual developmental requirement
PMID: 35345650
3
Helicobacter pylori infection induces gastric cancer cell malignancy through HOXA-AS2/miR-509-3p/MMD2 axis
PMID: 38573409
4
MMD2 upregulation in breast cancer is negatively correlated with miR-1270 and promotes proliferation while suppressing apoptosis
PMID: 35345650
5
MMD2 expression correlates with lung cancer survival, tumor microenvironment composition, and drug sensitivity; serves as independent prognostic factor
PMID: 37266662
Disease Associationsⓘ20
tricuspid valve diseaseOpen Targets
0.31Weak
placental retentionOpen Targets
0.27Weak
hypertensionOpen Targets
0.10Suggestive
Down syndromeOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.02Suggestive
periodontitisOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
neutropeniaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Duchenne muscular dystrophyOpen Targets
0.00Suggestive
Emery-Dreifuss muscular dystrophyOpen Targets
0.00Suggestive
endometriosisOpen Targets
0.00Suggestive
Facioscapulohumeral dystrophyOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
myotonic dystrophy type 1Open Targets
0.00Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Dravet syndromeOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DYSFProtein interaction86%ANO5Protein interaction86%MMDShared pathway75%TRIM67Shared pathway25%RABGAP1LShared pathway25%WHR1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
4%
Ovary
1%
Heart
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
MMD2DYSFANO5MMDTRIM67RABGAP1LWHR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IY49
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.74–1.35]
RankingsWhere MMD2 stands among ~20K protein-coding genes
  • #15,625of 20,598
    Most Researched15
  • #14,135of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedMMD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Novel cell lines derived from adult human ventricular cardiomyocytes.
PMID: 15913645
J Mol Cell Cardiol · 2005
1.00
2
Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.
PMID: 40663042
J Exp Med · 2025
0.90
3
Functional Analysis of Mmd2 and Related PAQR Genes During Sex Determination in Mice.
PMID: 35306493
Sex Dev · 2022
0.80
4
Helicobacter pylori infection induces gastric cancer cell malignancy by targeting HOXA-AS2/miR-509-3p/MMD2 axis.
PMID: 38573409
Genes Genomics · 2024
0.70
5
MiR-1270 Suppresses the Malignant Progression of Breast Cancer via Targeting MMD2.
PMID: 35345650
J Healthc Eng · 2022
0.60