LAMTOR2 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Gene

Homo sapiens

Also known as p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2

Gene ID: 28956 | Gene type: protein coding

About LAMTOR2

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,054,782-156,058,506 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 22.1), liver (RPKM 22.0) and 25 other tissues.

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. 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]

LAMTOR2 Products(2)

mRNA	Protein	Name
NM_001145264.2	NP_001138736.1	ragulator complex protein LAMTOR2 isoform 2
NM_014017.4	NP_054736.1	ragulator complex protein LAMTOR2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	22980980	GOA
contributes to molecular adaptor activity	IDA IDA: Inferred from direct assay	22980980	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20381137	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to amino acid stimulus	IDA IDA: Inferred from direct assay	22980980	GOA
involved in cellular response to amino acid stimulus	IMP IMP: Inferred from mutant phenotype	20381137	GOA
involved in positive regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	20381137	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	28935770	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	20381137	GOA
involved in regulation of cell growth	IMP IMP: Inferred from mutant phenotype	20381137	GOA
acts upstream of or within regulation of cell-substrate junction organization	IMP IMP: Inferred from mutant phenotype	24841562	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of FNIP-folliculin RagC/D GAP	IDA IDA: Inferred from direct assay	36103527	GOA
part of Ragulator complex	IDA IDA: Inferred from direct assay	20381137	GOA
part of Ragulator complex	IPI IPI: Inferred from physical interaction	28935770	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	29158492	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMTOR2 Protein Structure

Robl_LC7

0
100
125 a.a.

Protein Preferred Names

Protein Names

ragulator complex protein LAMTOR2

MAPBP-interacting protein

LAMTOR2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	LAMTOR2	Q9Y2Q5	BORCS6	Homo sapiens	Q96GS4	Y2H Prey Pooling	32296183
Intra	LAMTOR2	Q9Y2Q5	BORCS6	Homo sapiens	Q96GS4	Y2H Array	32296183
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Validated Y2H	25416956
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Y2H Array	32296183
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Anti Tag CoIP	22980980
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Y2H Array	25416956
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	BRET	37398436
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Anti Tag CoIP	33961781
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Lumier	37398436
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Y2H	21988832
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Anti Tag CoIP	20381137
Intra	LAMTOR2	Q9Y2Q5	LAMTOR3	Homo sapiens	Q9UHA4	Anti Tag CoIP	35271311
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	35271311
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	22980980
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	29123114
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	BRET	37398436
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	33961781
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Affinity Chrom	22980980
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	20381137
Intra	LAMTOR2	Q9Y2Q5	LAMTOR1	Homo sapiens	Q6IAA8	Anti Tag CoIP	25567906
Intra	LAMTOR2	Q9Y2Q5	BABAM1	Homo sapiens	Q9NWV8	BiLC	37398436
Intra	LAMTOR2	Q9Y2Q5	SLC38A9	Homo sapiens	Q8NBW4	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant LAMTOR2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77053	LAMTOR2 Protein, Human (His)	Q9Y2Q5-1 (M1-S125)	≥95%

Related Diseases

Diseases

Alias

Immunodeficiency Due To Defect In Mapbp-Interacting Protein

Primary Immunodeficiency Syndrome Due To P14 Deficiency	Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Primary Immunodeficiency Syndrome With Short Stature	ID-MAPBPIP

T Cell Deficiency

T Cell Immunodeficiency	T Lymphocyte Deficiency
T Lymphocyte Immunodeficiency	T-Lymphocyte Deficiency

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency	Scn5

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2	GS2
Griscelli Syndrome With Hemophagocytic Syndrome	Partial Albinism And Immunodeficiency Syndrome
Paid Syndrome	Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome
Griscelli-Prunieras Syndrome Type 2	Griscelli-Pruniéras Syndrome Type 2
Griscelli Syndrome 2

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07514	LAMTOR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LAMTOR2	RGD	RGD:1562501
Mus musculus	LAMTOR2	MGD	MGI:1932697
Macaca mulatta	LAMTOR2	VGNC	VGNC:74163
Bos taurus	LAMTOR2	VGNC	VGNC:30780
Felis catus	LAMTOR2	VGNC	VGNC:63189
Others	LAMTOR2	NCBI

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