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

Gene

• Entrez ID: 28956
• Gene name: Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
• Gene symbol: LAMTOR2
• Synonyms: ENDAP, HSPC003, MAPBPIP, MAPKSP1AP, ROBLD3, Ragulator2, p14
• 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

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000186	Process	Activation of MAPKK activity	IEA
GO:0001558	Process	Regulation of cell growth	IMP	20381137
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	22980980
GO:0005515	Function	Protein binding	IPI	20381137, 21516116, 21988832, 22980980, 25416956, 25561175, 25567906, 28514442, 29123114, 32296183
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005770	Component	Late endosome	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007050	Process	Cell cycle arrest	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0010761	Process	Fibroblast migration	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS
GO:0032008	Process	Positive regulation of TOR signaling	IBA	21873635
GO:0032008	Process	Positive regulation of TOR signaling	IMP	20381137
GO:0034613	Process	Cellular protein localization	IMP	20381137
GO:0035579	Component	Specific granule membrane	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0060090	Function	Molecular adaptor activity	IDA	22980980
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071230	Process	Cellular response to amino acid stimulus	IBA	21873635
GO:0071230	Process	Cellular response to amino acid stimulus	IMP	20381137
GO:0071986	Component	Ragulator complex	IBA	21873635
GO:0071986	Component	Ragulator complex	IDA	20381137
GO:0150116	Process	Regulation of cell-substrate junction organization	IMP	24841562
GO:1902414	Process	Protein localization to cell junction	IEA

Other IDs

• MIM: 610389
• HGNC: 29796
• e!Ensembl: 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

Pathways

KEGG:

mTOR signaling pathway

Reactome:

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

Causal
Disease name	Disease term	dbSNP ID	References
Congenital neutropenia	Congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475, rs606231473, rs775224457, rs769441127, rs148559256, rs797044567, rs796065343, rs797045009, rs878855315, rs1555710005, rs879253750, rs879253882, rs1555354200, rs1555354198, rs1555354750, rs890101650, rs759302795, rs57246956, rs138156467, rs1194477276, rs1570588220, rs757401069, rs745582203, rs1191239079, rs1597905369, rs1599294750, rs1594996301, rs1595004126, rs1595004676, rs756667927, rs34019455	28593997
Immunodeficiency	Immunodeficiency due to Defect in MAPBP-Interacting Protein, Primary immunodeficiency syndrome due to p14 deficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	28593997
Neutropenia	Neutropenia	rs879253882
Piebaldism	Piebaldism	rs121913679, rs794726672, rs794726673, rs121913680, rs794726674, rs794726675, rs121913684, rs121913687, rs28933371, rs387907217, rs1560419312, rs1560418178

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Hypopigmentation disorder	Hypopigmentation disorder
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes