Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	28956
Gene name Gene Name - the full gene name approved by the HGNC.	Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LAMTOR2
Synonyms (NCBI Gene) Gene synonyms aliases	ENDAP, HSPC003, MAPBPIP, MAPKSP1AP, ROBLD3, Ragulator2, p14
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q22
Summary Summary of gene provided in NCBI Entrez 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.

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
MIRT1103753	hsa-miR-3616-5p	CLIP-seq
MIRT1103754	hsa-miR-3647-5p	CLIP-seq
MIRT1103755	hsa-miR-3978	CLIP-seq
MIRT1103756	hsa-miR-4266	CLIP-seq
MIRT1103757	hsa-miR-432	CLIP-seq
MIRT1103758	hsa-miR-4433	CLIP-seq
MIRT1103759	hsa-miR-4670-3p	CLIP-seq
MIRT1103760	hsa-miR-4695-5p	CLIP-seq
MIRT1103761	hsa-miR-4749-3p	CLIP-seq
MIRT1103762	hsa-miR-4779	CLIP-seq
MIRT1103763	hsa-miR-573	CLIP-seq
MIRT1103764	hsa-miR-3653	CLIP-seq
MIRT1103756	hsa-miR-4266	CLIP-seq
MIRT1103765	hsa-miR-4659a-3p	CLIP-seq
MIRT1103766	hsa-miR-4659b-3p	CLIP-seq
MIRT1103760	hsa-miR-4695-5p	CLIP-seq
MIRT1103761	hsa-miR-4749-3p	CLIP-seq
MIRT1103762	hsa-miR-4779	CLIP-seq
MIRT1103767	hsa-miR-522	CLIP-seq
MIRT1103751	hsa-miR-219-1-3p	CLIP-seq
MIRT1103752	hsa-miR-3148	CLIP-seq
MIRT1103753	hsa-miR-3616-5p	CLIP-seq
MIRT1103754	hsa-miR-3647-5p	CLIP-seq
MIRT1103764	hsa-miR-3653	CLIP-seq
MIRT1103755	hsa-miR-3978	CLIP-seq
MIRT1103757	hsa-miR-432	CLIP-seq
MIRT1103758	hsa-miR-4433	CLIP-seq
MIRT1103759	hsa-miR-4670-3p	CLIP-seq
MIRT1103763	hsa-miR-573	CLIP-seq

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
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	29158492
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	22980980
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0008104	Process	Intracellular protein localization	IMP	20381137
GO:0010008	Component	Endosome membrane	TAS
GO:0010761	Process	Fibroblast migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	NAS	20381137
GO:0032008	Process	Positive regulation of TOR signaling	IBA
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IMP	20381137
GO:0035579	Component	Specific granule membrane	TAS
GO:0038202	Process	TORC1 signaling	NAS	22980980
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	22980980
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071230	Process	Cellular response to amino acid stimulus	IBA
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	22980980
GO:0071230	Process	Cellular response to amino acid stimulus	IMP	20381137
GO:0071986	Component	Ragulator complex	IBA
GO:0071986	Component	Ragulator complex	IDA	20381137, 28935770, 29123114, 29158492, 31601708
GO:0071986	Component	Ragulator complex	IPI	28935770
GO:0150116	Process	Regulation of cell-substrate junction organization	IEA
GO:0150116	Process	Regulation of cell-substrate junction organization	IEA
GO:0150116	Process	Regulation of cell-substrate junction organization	IMP	24841562
GO:1902414	Process	Protein localization to cell junction	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	28935770, 29123114, 29158492
GO:1990877	Component	FNIP-folliculin RagC/D GAP	IDA	36103527

MIM	HGNC	e!Ensembl
610389	29796	ENSG00000116586

Protein

UniProt ID

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

MLRPKALTQVLSQANTGGVQSTLLLNNEGSLLAYSGYGDTDARVTAAIASNIWAAYDRNG
NQAFNEDNLKFILMDCMEGRVAITRVANLLLCMYAKETVGFGMLKAKAQALVQYLEEPLT
QVAAS

Sequence length

125

Interactions

View interactions

	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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Immunodeficiency	primary immunodeficiency syndrome due to p14 deficiency	N/A	N/A	GenCC

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia Hemolytic	Associate	36639418
Breast Neoplasms	Associate	23341997
COVID 19	Associate	35421970
Malnutrition	Associate	35458174
Uveal melanoma	Associate	38246894

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