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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 28956

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Robl_LC7: Roadblock/LC7 domain (8 - 95)

  • 0
  • 100
  • 125 a.a.
Protein Preferred Names Protein Names

ragulator complex protein LAMTOR2

  • MAPBP-interacting protein

LAMTOR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LAMTOR2 Q9Y2Q5 BORCS6 Homo sapiens Q96GS4 32296183
Intra
LAMTOR2 Q9Y2Q5 BORCS6 Homo sapiens Q96GS4 32296183
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 25416956
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 32296183
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 22980980
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 25416956
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 37398436
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 33961781
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 37398436
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4
Y2H
21988832
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 20381137
Intra
LAMTOR2 Q9Y2Q5 LAMTOR3 Homo sapiens Q9UHA4 35271311
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 35271311
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 22980980
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 29123114
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 37398436
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 33961781
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 22980980
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 20381137
Intra
LAMTOR2 Q9Y2Q5 LAMTOR1 Homo sapiens Q6IAA8 25567906
Intra
LAMTOR2 Q9Y2Q5 BABAM1 Homo sapiens Q9NWV8 37398436
Intra
LAMTOR2 Q9Y2Q5 SLC38A9 Homo sapiens Q8NBW4 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%, as determined by reducing SDS-PAGE.

LAMTOR2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89904 MAPBPIP Antibody (YA9248) WB, ICC/IF, IF-Tissue, IP, ELISA human

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

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