LAMTOR2 (late endosomal/lysosomal adaptor, MAPK and MTOR activator 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 28956
Gene name Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Gene symbol LAMTOR2
Synonyms (NCBI Gene)
ENDAPHSPC003MAPBPIPMAPKSP1APROBLD3Ragulator2p14
Chromosome 1
Chromosome location 1q22
Summary 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.
miRNA miRNA information provided by mirtarbase database.
34
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
miRTarBase ID miRNA Experiments Reference
MIRT005438 hsa-miR-16-5p pSILAC 18668040
MIRT005438 hsa-miR-16-5p Proteomics 18668040
MIRT040283 hsa-miR-615-3p CLASH 23622248
MIRT1103751 hsa-miR-219-1-3p CLIP-seq
MIRT1103752 hsa-miR-3148 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (43)
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth IMP 20381137
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 22980980
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 20381137, 21516116, 21988832, 22980980, 25416956, 25561175, 25567906, 28514442, 29123114, 32296183, 33961781, 35271311, 37398436
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610389 29796 ENSG00000116586
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2Q5
Protein name Ragulator complex protein LAMTOR2 (Endosomal adaptor protein p14) (Late endosomal/lysosomal Mp1-interacting protein) (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2) (Mitogen-activated protein-binding protein-interacting protein) (MAPBP-in
Protein function 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:291
PDB 5X6U , 5X6V , 5Y39 , 5Y3A , 5YK3 , 6B9X , 6EHP , 6EHR , 6NZD , 6U62 , 6ULG , 6WJ2 , 6WJ3 , 7T3A , 7T3B , 7T3C , 7UX2 , 7UXC , 7UXH , 8DHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03259 Robl_LC7 5 → 95 Roadblock/LC7 domain Domain
Sequence
Sequence length 125
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  mTOR signaling pathway   Macroautophagy
mTOR signalling
mTORC1-mediated signalling
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
MAP2K and MAPK activation
Neutrophil degranulation
Regulation of PTEN gene transcription
Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LAMTOR2-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Primary immunodeficiency syndrome due to p14 deficiency Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (98)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 18587015
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20978327, 21538028
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15189501, 26986751
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 15213599
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma, Microcystic Adenoma BEFREE 14614047
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 12454511
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 17206475
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 15078490
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 36639418 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 16897188
★★★★★
★☆☆☆☆
Found in Text Mining only