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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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A2M
alpha-2-macroglobulin
Chromosome 12 · 12p13.31
NCBI Gene: 2Ensembl: ENSG00000175899.16HGNC: HGNC:7UniProt: P01023
323PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixprotease bindingendopeptidase inhibitor activityserine-type endopeptidase inhibitor activityrefractive errormyopiaAganglionic megacolonAbnormality of refraction
✦AI Summary

Alpha-2-macroglobulin (A2M) is a broad-spectrum serine protease inhibitor that functions through a unique 'trapping' mechanism, wherein proteinase cleavage of its bait region induces conformational changes that entrap the enzyme while allowing activity against small substrates 1. Beyond protease inhibition, A2M functions as a multi-functional regulator of inflammatory and oxidative stress pathways with emerging clinical significance. Mechanistically, A2M inhibits inflammatory mediators by neutralizing IL-1β and blocking downstream NF-κB signaling in chondrocytes, thereby reducing matrix metalloproteinase expression and protecting cartilage 1. In pathological contexts, A2M activates the Keap1/Nrf2 antioxidant pathway and promotes anti-inflammatory macrophage differentiation, mitigating glucocorticoid-induced osteonecrosis 2. A2M also regulates vascular smooth muscle cell phenotype switching via the RhoA-GTPase pathway, with A2M-LRP1 signaling implicated in preeclampsia pathogenesis 3. Clinically, A2M dysfunction associates with multiple diseases including neurodegeneration (Alzheimer's disease through zinc dyshomeostasis) 4, lung cancer (progressive A2M loss correlates with paclitaxel resistance development) 5, and infantile pulmonary inflammatory myofibroblastic tumors carrying A2M-ALK fusion genes 6. Intra-articular A2M injection shows modest, comparable efficacy to PRP and corticosteroids for knee osteoarthritis 7, though cost-effectiveness remains questionable for routine clinical application.

Sources cited
1
A2M neutralizes IL-1β and blocks NF-κB pathway to reduce inflammatory mediators and protect cartilage in osteoarthritis
PMID: 35451533
2
A2M activates Keap1/Nrf2 pathway and promotes anti-inflammatory macrophage differentiation to mitigate glucocorticoid-induced osteonecrosis
PMID: 39343183
3
A2M-LRP1 signaling regulates RhoA-GTPase and smooth muscle cell phenotype switching in preeclampsia pathogenesis
PMID: 39994728
4
A2M serves as a zinc-binding protein relevant to neurodegeneration and Alzheimer's disease through zinc homeostasis regulation
PMID: 17851198
5
A2M is progressively lost during paclitaxel resistance development in lung cancer and serves as therapeutic target for drug resistance
PMID: 40345481
6
Chimeric A2M-ALK gene is identified in infantile pulmonary inflammatory myofibroblastic tumors
PMID: 28705706
7
Intra-articular A2M injection shows comparable but non-superior short-term efficacy to PRP and corticosteroids for knee osteoarthritis
PMID: 39259950
Disease Associationsⓘ20
refractive errorOpen Targets
0.23Weak
myopiaOpen Targets
0.18Weak
Aganglionic megacolonOpen Targets
0.12Weak
Abnormality of refractionOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
nail-patella syndromeOpen Targets
0.07Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
musculoskeletal system diseaseOpen Targets
0.05Suggestive
pachyonychia congenitaOpen Targets
0.04Suggestive
diabetic nephropathyOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.04Suggestive
Down syndromeOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
acute myocardial infarctionOpen Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
TECHNETIUM TC 99M SUCCIMERApproved
Alpha-2-macroglobulin binding agent
Related Genes
APOA2Protein interaction100%APOEProtein interaction100%HPProtein interaction100%SERPING1Protein interaction100%TTRProtein interaction99%LRP1Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Liver
52%
Heart
39%
Brain
7%
Ovary
7%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
A2MAPOA2APOEHPSERPING1TTRLRP1
PROTEIN STRUCTURE
Preparing viewer…
PDB2P9R · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.77]
RankingsWhere A2M stands among ~20K protein-coding genes
  • #1,025of 20,598
    Most Researched323 · top 5%
  • #783of 1,025
    FDA-Approved Drug Targets1
  • #6,161of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedA2M
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Targeting A2M-LRP1 reverses uterine spiral artery remodeling disorder and alleviates the progression of preeclampsia.
PMID: 39994728
Cell Commun Signal · 2025
1.00
2
Zinc dyshomeostasis, ageing and neurodegeneration: implications of A2M and inflammatory gene polymorphisms.
PMID: 17851198
J Alzheimers Dis · 2007
0.90
3
Inflammatory myofibroblastic tumors of the lung carrying a chimeric A2M-ALK gene: report of 2 infantile cases and review of the differential diagnosis of infantile pulmonary lesions.
PMID: 28705706
Hum Pathol · 2017
0.80
4
Alpha-2-macroglobulin mitigates glucocorticoid-induced osteonecrosis via Keap1/Nrf2 pathway activation.
PMID: 39343183
Free Radic Biol Med · 2024
0.70
5
Single cell transcriptomics identifies focal segmental glomerulosclerosis remission endothelial biomarker.
PMID: 32107344
JCI Insight · 2020
0.64