late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
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Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalprimary immunodeficiency syndrome due to p14 deficiency
severe congenital neutropenia
neurodegenerative disease
Abnormality of the skeletal system
deep vein thrombosis
allergic rhinitis
Parkinson disease
breast cancer
breast carcinoma
neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Ragulator complex protein LAMTOR2
As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:20381137, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492). Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane (PubMed:22053050, PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492, PubMed:30181260). Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:22980980, PubMed:29107538, PubMed:29123114, PubMed:29158492). Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2 (By similarity)
LAMTOR2 · Q9Y2Q5
Mean pLDDT
91.4/ 100
Very high
125 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
