LAMTOR2 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 Gene
Also Known as p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2
Species: Homo sapiens
About LAMTOR2
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 |
LAMTOR2 Protein Structure
Robl_LC7: Roadblock/LC7 domain (8 - 95)
- 0
- 100
- 125 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ragulator complex protein LAMTOR2 |
|
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 | 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 |
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 |
|
|
| T Cell Deficiency |
|
|
| Severe Congenital Neutropenia 5 |
|
|
| Griscelli Syndrome, Type 2 |
|
|
| Cohen Syndrome |
|
|
| Autosomal Dominant Severe Congenital Neutropenia |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Severe Congenital Neutropenia |
|
|
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 |