LAMTOR2
Ragulator complex protein LAMTOR2
Also known as: ENDAP, LTOR2_HUMAN, MAPBPIP, MAPKSP1AP, p14, Ragulator2, ROBLD3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2Q5
- Gene
- LAMTOR2
- Ensembl
- ENSG00000116586
- Chromosome
- 1
- Canonical length
- 125 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Canonical amino-acid sequenceUniProt
125 residues, UniProt reviewed canonical sequence.
>Q9Y2Q5|LAMTOR2
1 MLRPKALTQV LSQANTGGVQ STLLLNNEGS LLAYSGYGDT DARVTAAIAS NIWAAYDRNG
61 NQAFNEDNLK FILMDCMEGR VAITRVANLL LCMYAKETVG FGMLKAKAQA LVQYLEEPLT
121 QVAASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LAMTOR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 169 nTPM
Expression across tissuesHPA
Tissue
- liver: 169 nTPM
- choroid plexus: 109 nTPM
- kidney: 103 nTPM
- heart muscle: 98 nTPM
- skeletal muscle: 92 nTPM
- pancreas: 91 nTPM
Single-cell type
- hofbauer cells: 577 nCPM
- esophageal apical cells: 402 nCPM
- esophageal suprabasal cells: 365 nCPM
- hepatocytes: 361 nCPM
- gastric progenitor cells: 292 nCPM
- parietal cells: 285 nCPM
Immune cell
- myeloid DC: 538 nTPM
- classical monocyte: 467 nTPM
- intermediate monocyte: 448 nTPM
- total PBMC: 390 nTPM
- eosinophil: 378 nTPM
- non-classical monocyte: 365 nTPM
Brain region
- thalamus: 40 nTPM
- white matter: 39 nTPM
- hypothalamus: 38 nTPM
- cerebellum: 35 nTPM
- choroid plexus: 33 nTPM
- midbrain: 33 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LAMTOR2.
Disease | AllUniProt
Conditions LAMTOR2 is implicated in, by any mechanism.
- Immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP) MIM:610798
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.93
- gnomAD pLI
- 0.2
- gnomAD missense Z
- 1.26
- DepMap mean gene effect
- -0.59
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to amino acid stimulus
- fibroblast migration
- intracellular protein localization
- positive regulation of MAPK cascade
- positive regulation of TOR signaling
- positive regulation of TORC1 signaling
- protein localization to cell junction
- regulation of cell growth
- TORC1 signaling
- regulation of cell-substrate junction organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Roadblock/LAMTOR2 domain
- Roadblock/LC7 domain
- Ragulator complex protein LAMTOR2-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LAMTOR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LAMTOR2 as an antibody target. Whether an autoantibody or antibody against LAMTOR2 could matter depends on whether native LAMTOR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LAMTOR2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LAMTOR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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