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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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M6PR
mannose-6-phosphate receptor, cation dependent
Chromosome 12 · 12p13.31
NCBI Gene: 4074Ensembl: ENSG00000003056.8HGNC: HGNC:6752UniProt: F5GX30
92PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cargo receptor activityGolgi to lysosome transportretromer complex bindingendosomeneurodegenerative diseasetype 1 diabetes mellitusAbnormality of the skeletal systemrheumatoid arthritis
✦AI Summary

M6PR (mannose-6-phosphate receptor, cation-dependent) functions as a cargo receptor mediating transport of phosphorylated lysosomal enzymes from the Golgi complex and cell surface to lysosomes. 1 Lysosomal enzymes bearing phosphomannosyl residues bind specifically to M6PR in the Golgi apparatus; the resulting receptor-ligand complex is transported to acidic prelysosomal compartments where low pH mediates complex dissociation. M6PR operates through clathrin-coated endocytic vesicles and the retromer complex, with recent studies revealing that retromer-mediated recycling of M6PR to the plasma membrane represents a key regulatory mechanism. 2 M6PR dysfunction has significant disease relevance. CLN3 mutations in Batten disease cause M6PR mis-trafficking, leading to mis-sorting of lysosomal enzymes and defective autophagic-lysosomal reformation. 1 Additionally, M6P biosynthesis deficiency impairs M6PR ligand availability, reducing lysosomal enzyme targeting efficiency. 2 Clinically, M6PR has emerged as a therapeutic target. Lysosome-targeting chimeras (LYTACs) exploit M6PR to direct extracellular proteins for lysosomal degradation, representing a novel degradation platform complementary to traditional inhibitory approaches. 3 LYTACs successfully degrade therapeutically relevant proteins including VEGF, EGFR, and PD-L1 in various disease models. 4 This strategy offers advantages for targeting proteins with inaccessible activity profiles and extends therapeutic reach beyond cytosolic targets.

Sources cited
1
CLN3 interacts with CI-M6PR and CLN3 depletion causes M6PR mis-trafficking and defective lysosomal enzyme sorting in Batten disease
PMID: 37400440
2
Retromer genes modulate LYTAC-mediated degradation through M6PR recycling; M6P biosynthesis inhibition increases M6PR ligand availability for LYTAC internalization
PMID: 37856615
3
LYTACs use CI-M6PR-binding glycopeptide ligands as agonists to target extracellular proteins for lysosomal degradation; CI-M6PR mediates cargo internalization via the exocyst complex
PMID: 32728216
4
Aptamer-based LYTACs targeting M6PR successfully facilitate VEGF degradation through the autophagy-lysosome system for therapeutic treatment of neovascular ocular diseases
PMID: 39267779
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
type 1 diabetes mellitusOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.17Weak
rheumatoid arthritisOpen Targets
0.11Weak
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
nasopharyngeal carcinomaOpen Targets
0.04Suggestive
essential fructosuriaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
adenine phosphoribosyltransferase deficiencyOpen Targets
0.03Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.03Suggestive
Rotor syndromeOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
upper respiratory tract disorderOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
hypertension, pregnancy-inducedOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.01Suggestive
Lentivirus InfectionsOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GGA3Protein interaction99%GGA1Protein interaction96%GGA2Protein interaction91%PLIN3Protein interaction87%TGOLN2Protein interaction75%VTI1AProtein interaction75%
Tissue Expression6 tissues
Heart
100%
Lung
92%
Brain
80%
Bone Marrow
68%
Ovary
54%
Liver
40%
Gene Interaction Network
Click a node to explore
M6PRGGA3GGA1GGA2PLIN3TGOLN2VTI1A
PROTEIN STRUCTURE
Preparing viewer…
PDB1JUQ · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.40–0.84]
RankingsWhere M6PR stands among ~20K protein-coding genes
  • #5,198of 20,598
    Most Researched92
  • #7,240of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedM6PR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lysosome-targeting chimaeras for degradation of extracellular proteins.
PMID: 32728216
Nature · 2020
1.00
2
LYTACs that engage the asialoglycoprotein receptor for targeted protein degradation.
PMID: 33767387
Nat Chem Biol · 2021
0.90
3
Elucidating the cellular determinants of targeted membrane protein degradation by lysosome-targeting chimeras.
PMID: 37856615
Science · 2023
0.80
4
Recombinant pro-CTSD (cathepsin D) enhances SNCA/α-Synuclein degradation in α-Synucleinopathy models.
PMID: 35287553
Autophagy · 2022
0.70
5
Targeted degradation of VEGF with bispecific aptamer-based LYTACs ameliorates pathological retinal angiogenesis.
PMID: 39267779
Theranostics · 2024
0.60