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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LAMTOR2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Chromosome 1 · 1q22
NCBI Gene: 28956Ensembl: ENSG00000116586.13HGNC: HGNC:29796UniProt: Q9Y2Q5
64PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell-substrate junction organizationguanyl-nucleotide exchange factor activitymolecular adaptor activityprotein bindingprimary immunodeficiency syndrome due to p14 deficiencysevere congenital neutropenianeurodegenerative diseaseneoplasm
✦AI Summary

LAMTOR2 (p14) is a core component of the Ragulator complex that functions as a critical regulator of mTORC1 signaling and cellular nutrient sensing. As part of the pentameric Ragulator complex, LAMTOR2 acts as a guanine nucleotide exchange factor (GEF) and adapter protein that activates Rag GTPases and recruits them to the lysosomal membrane 1. This positioning enables mTORC1 assembly and activation in response to amino acid availability, facilitating cell growth regulation 2. LAMTOR2 plays dual roles in immune defense: it mediates TAX1BP1-dependent xenophagy against bacterial pathogens like Group A Streptococcus and Salmonella by enabling autolysosome formation 3, and it enhances macrophage antimicrobial responses through SCFA-GPR43 signaling, promoting phagosome-lysosome fusion and ERK phosphorylation 4. Beyond immunity, LAMTOR2 participates in disease pathogenesis: it interacts with BCLAF1 to regulate osteoarthritic cartilage degradation 5, serves as a scaffold enabling VSIG2-mediated mTOR hyperactivation in pancreatic cancer 6, and is elevated in ankylosing spondylitis where it promotes pathogenic TH17 cell differentiation 7. Genetic deficiency of LAMTOR2 causes primary immunodeficiency with hypopigmentation 8, underscoring its essential role in immune homeostasis and melanocyte biology.

Sources cited
1
LAMTOR2 involvement in amino acid sensing and mTORC1 activation for cell growth regulation
PMID: 20381137
2
LAMTOR2 acts as GEF for Rag GTPases and recruits them to lysosomal membrane for mTORC1 activation
PMID: 29107538
3
LAMTOR2 required for TAX1BP1-mediated xenophagy and autolysosome formation during bacterial infection
PMID: 30428163
4
LAMTOR2 mediates SCFA-GPR43 enhanced macrophage antimicrobial responses via phagosome-lysosome fusion and ERK phosphorylation
PMID: 33144310
5
LAMTOR2 interacts with BCLAF1 to regulate osteoarthritic cartilage degradation
PMID: 39990659
6
LAMTOR2 serves as scaffold for VSIG2-mediated mTOR hyperactivation in pancreatic cancer
PMID: 37626304
7
LAMTOR2 elevated in ankylosing spondylitis and promotes TH17 cell differentiation
PMID: 40296690
8
LAMTOR2 deficiency causes primary immunodeficiency associated with hypopigmentation
PMID: 33641308
Disease Associationsⓘ21
primary immunodeficiency syndrome due to p14 deficiencyOpen Targets
0.70Moderate
severe congenital neutropeniaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.29Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Parkinson diseaseOpen Targets
0.04Suggestive
deep vein thrombosisOpen Targets
0.04Suggestive
allergic rhinitisOpen Targets
0.04Suggestive
neuroblastomaOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
melanomaOpen Targets
0.02Suggestive
carcinomaOpen Targets
0.02Suggestive
mesotheliomaOpen Targets
0.02Suggestive
chronic myelogenous leukemiaOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
malignant pleural mesotheliomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
Immunodeficiency due to defect in MAPBP-interacting proteinUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DOCK1Protein interaction100%TFEBProtein interaction100%RGP1Protein interaction100%ELMO1Protein interaction100%WDR59Protein interaction100%MIOSProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Heart
40%
Brain
31%
Bone Marrow
29%
Ovary
19%
Gene Interaction Network
Click a node to explore
LAMTOR2DOCK1TFEBRGP1ELMO1WDR59MIOS
PROTEIN STRUCTURE
Preparing viewer…
PDB6B9X · 1.42 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.24 [0.12–0.55]
RankingsWhere LAMTOR2 stands among ~20K protein-coding genes
  • #7,284of 20,598
    Most Researched64
  • #3,489of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedLAMTOR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk.
PMID: 23341997
PLoS One · 2013
1.00
2
LAMTOR2/LAMTOR1 complex is required for TAX1BP1-mediated xenophagy.
PMID: 30428163
Cell Microbiol · 2019
0.90
3
BCLAF1 Regulates Osteoarthritic Cartilage Degradation Through Interaction with LAMTOR2.
PMID: 39990659
Int J Biol Sci · 2025
0.80
4
VSIG2 promotes malignant progression of pancreatic ductal adenocarcinoma by enhancing LAMTOR2-mediated mTOR activation.
PMID: 37626304
Cell Commun Signal · 2023
0.70
5
Oxidative Phosphorylation Pathway in Ankylosing Spondylitis: Multi-Omics Analysis and Machine Learning.
PMID: 40296690
Int J Rheum Dis · 2025
0.60