LAMTOR2
Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 2
Gene Information Card
| Symbol | LAMTOR2 |
|---|---|
| Full Name | Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 28956 ncbi.nlm.nih.gov/gene/28956 |
| Ensembl ID | ENSG00000116574 |
| UniProt ID | Q9Y2Q5 |
| OMIM ID | 610389 |
| HGNC ID | 29796 |
| Aliases | p14, MAPBPIP, Ragulator2, ENDAP |
Description
LAMTOR2 encodes a protein component of the Ragulator complex, which anchors the mTORC1 complex to lysosomal membranes and regulates amino acid sensing. It also participates in MAPK signaling by scaffolding MEK and ERK on late endosomes. Loss-of-function mutations impair endosomal trafficking and immune cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary immunodeficiency due to LAMTOR2 deficiency | Loss-of-function mutations disrupt endosomal signaling, leading to neutropenia, recurrent infections, and growth retardation | PMID: 17952090; OMIM 610389 |
| Hermansky-Pudlak syndrome-like phenotype | Defective lysosome-related organelle biogenesis | PMID: 17952090 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.5 | Medium |
| Lung | 7.2 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 14.5 | Leukemia cell line |
| HeLa | 11.2 | Cervical carcinoma |
| HEK 293 | 9.8 | Embryonic kidney |
| A549 | 8.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, protein truncation |
| c.130C>T (p.Arg44*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Reported in primary immunodeficiency; impaired endosomal signaling and mTORC1 activation
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0032006 (GO:0032006) | • GO:0032010 (GO:0032010) |
| • GO:0005765 (GO:0005765) | • GO:0007264 (GO:0007264) |
| • GO:0005072 (GO:0005072) |
Pathways
• mTORC1 signaling (Reactome R-HSA-165159)
• MAPK signaling (Reactome R-HSA-5673001)
• Ragulator complex (Reactome R-HSA-5632684)
Protein Summary
LAMTOR2 (p14) is a 124-amino acid protein that forms part of the Ragulator complex. It localizes to late endosomes and lysosomes, where it recruits mTORC1 in response to amino acids. It also scaffolds MEK and ERK for MAPK signaling. Mutations cause a rare immunodeficiency syndrome.
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