HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LAMP2
lysosome associated membrane protein 2
Chromosome X Β· Xq24
NCBI Gene: 3920Ensembl: ENSG00000005893.18HGNC: HGNC:6501UniProt: P13473
284PubMed Papers
21Diseases
0Drugs
144Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
late endosomemembraneion channel inhibitor activityenzyme bindingGlycogen Storage Disease Type 2bhypertrophic cardiomyopathyAbnormality of the cardiovascular systemdilated cardiomyopathy
✦AI Summary

LAMP2 (lysosomal associated membrane protein 2) is a major lysosomal membrane component with three functionally distinct isoforms 1. LAMP2A serves as a receptor and channel for chaperone-mediated autophagy (CMA), facilitating transport of cytosolic proteins into lysosomes 1. LAMP2B is required for autophagosome-lysosome fusion in cardiomyocytes and participates in exosome biogenesis 1, while LAMP2C mediates nucleic acid autophagy 1. Beyond autophagy, LAMP2 directly inhibits the TMEM175 lysosomal cation channel to maintain acidic pH optimal for hydrolase activity 2. LAMP2 also participates in leucine-sensing pathways by binding calnexin to regulate MTORC1 signaling 3. During ferroptosis execution, elevated LAMP2A promotes CMA-mediated GPX4 degradation 4. Clinically, LAMP2 mutations cause Danon disease, an X-linked cardiomyopathy characterized by progressive cardiac hypertrophy, skeletal myopathy, and intellectual disability, typically fatal by age 25 in males 5. Gene therapy using AAV9-delivered LAMP2B demonstrated safety and efficacy in early clinical trials, with treated patients showing cardiac LAMP2 expression, stabilized left ventricular mass, and preserved cardiac function over 24-54 months 6. LAMP2 dysregulation also associates with type 2 diabetes and various neurodegenerative conditions, establishing its importance across multiple pathophysiological processes 7.

Sources cited
1
LAMP2 exists as three isoforms with distinct functions: LAMP2A in chaperone-mediated autophagy, LAMP2B in autophagosome-lysosome fusion and exosomes, LAMP2C in nucleic acid autophagy
PMID: 37469132
2
LAMP2 directly inhibits TMEM175 channel to maintain acidic lysosomal pH essential for hydrolase activity
PMID: 37390818
3
LAMP2 binds calnexin and interacts with Ragulator to regulate leucine-stimulated MTORC1 pathway
PMID: 35266843
4
LAMP2A elevation promotes chaperone-mediated autophagy leading to GPX4 degradation during ferroptosis execution
PMID: 30718432
5
LAMP2 gene mutations cause Danon disease, an X-linked cardiomyopathy with cardiomyopathy, skeletal myopathy, and intellectual disability, typically lethal by mid-twenties in males
PMID: 37628591
6
AAV9-LAMP2B gene therapy in Danon disease patients showed cardiac LAMP2 expression, stabilized left ventricular mass, preserved ejection fraction, and improved cardiac biomarkers over 24-54 months
PMID: 39556016
7
LAMP2 is a hub autophagy-related gene associated with type 2 diabetes mellitus
PMID: 37223013
Disease Associationsβ“˜21
Glycogen Storage Disease Type 2bOpen Targets
0.83Strong
hypertrophic cardiomyopathyOpen Targets
0.54Moderate
Abnormality of the cardiovascular systemOpen Targets
0.54Moderate
dilated cardiomyopathyOpen Targets
0.50Moderate
cardiomyopathyOpen Targets
0.49Moderate
Pigmentary retinopathyOpen Targets
0.37Weak
isolated noncompaction of the ventricular myocardiumOpen Targets
0.34Weak
familial hypertrophic cardiomyopathyOpen Targets
0.31Weak
Intellectual disabilityOpen Targets
0.17Weak
neoplasmOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
primary biliary cirrhosisOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
left ventricular noncompactionOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
pancreatitisOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
dilated cardiomyopathy 1AAOpen Targets
0.06Suggestive
Danon diseaseUniProt
Pathogenic Variants144
NM_002294.3(LAMP2):c.1093+1G>APathogenic
Danon disease|not provided|Primary dilated cardiomyopathy
β˜…β˜…β˜†β˜†2026
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter)Pathogenic
Danon disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 174
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)Pathogenic
Danon disease|not provided|Danon disease;Hypertrophic cardiomyopathy|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 293
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter)Pathogenic
Danon disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_002294.3(LAMP2):c.1A>T (p.Met1Leu)Pathogenic
not provided|Danon disease
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_002294.3(LAMP2):c.864+3_864+6delPathogenic
Danon disease|not provided|Hypertrophic cardiomyopathy|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025
NM_002294.3(LAMP2):c.1A>C (p.Met1Leu)Pathogenic
Danon disease|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)Pathogenic
Danon disease|not provided|Danon disease;Hypertrophic cardiomyopathy|Cardiovascular phenotype|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 310
NM_002294.3(LAMP2):c.851_852del (p.Phe284fs)Pathogenic
Danon disease|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 284
NM_002294.3(LAMP2):c.65-1G>CPathogenic
not provided|Danon disease
β˜…β˜…β˜†β˜†2025
NM_002294.3(LAMP2):c.183+1G>APathogenic
Danon disease|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2024
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter)Pathogenic
not provided|Cardiovascular phenotype|Danon disease
β˜…β˜…β˜†β˜†2024β†’ Residue 359
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)Pathogenic
Danon disease|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 232
NM_002294.3(LAMP2):c.929-2A>GPathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_002294.3(LAMP2):c.974del (p.Leu325fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2023β†’ Residue 325
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter)Likely pathogenic
Danon disease
β˜…β˜…β˜†β˜†2023β†’ Residue 304
NM_002294.3(LAMP2):c.741+1G>APathogenic
Danon disease|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2022
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)Pathogenic
not provided|Danon disease
β˜…β˜…β˜†β˜†2021β†’ Residue 240
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter)Pathogenic
Danon disease|not provided|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2021β†’ Residue 98
NM_002294.3(LAMP2):c.659dup (p.Gly221fs)Pathogenic
not provided|Danon disease
β˜…β˜…β˜†β˜†2020β†’ Residue 221
View on ClinVar β†—
Related Genes
PIKFYVEProtein interaction100%VAC14Protein interaction100%EEA1Protein interaction100%BECN1Protein interaction99%HIF1AProtein interaction94%MTORProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Liver
24%
Lung
20%
Bone Marrow
20%
Heart
19%
Ovary
15%
Gene Interaction Network
Click a node to explore
LAMP2PIKFYVEVAC14EEA1BECN1HIF1AMTOR
PROTEIN STRUCTURE
Preparing viewer…
PDB2MOF Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.08–0.36]
RankingsWhere LAMP2 stands among ~20K protein-coding genes
  • #1,271of 20,598
    Most Researched284 Β· top 10%
  • #526of 5,498
    Most Pathogenic Variants144 Β· top 10%
  • #1,600of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedLAMP2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
LAMP2A, LAMP2B and LAMP2C: similar structures, divergent roles.
PMID: 37469132
Autophagy Β· 2023
1.00
2
Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.
PMID: 37390818
Mol Cell Β· 2023
0.90
3
KAT7-mediated CANX (calnexin) crotonylation regulates leucine-stimulated MTORC1 activity.
PMID: 35266843
Autophagy Β· 2022
0.80
4
Identification and analysis of type 2 diabetes-mellitus-associated autophagy-related genes.
PMID: 37223013
Front Endocrinol (Lausanne) Β· 2023
0.70
5
History and Perspective of LAMP-2 Deficiency (Danon Disease).
PMID: 39456205
Biomolecules Β· 2024
0.64