LAMTOR2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | LAMTOR2 |
| Official Name | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [Source:HGNC Symbol;Acc:HGNC:29796] |
| Ensembl ID | ENSG00000116586 |
| Bio databases IDs | |
| Aliases | late endosomal/lysosomal adaptor, MAPK and MTOR activator 2, mitogen activated protein binding protein interacting protein, MAPKSP1 adaptor protein, endosomal adaptor protein |
| Synonyms | 2010111E04Rik, ENDAP, HSPC003, late endosomal/lysosomal adaptor, MAPK and MTOR activator 2, MAPBPIP, MAPKSP1AP, P14, Rab25, Ragulator2, RGD1562501, ROBLD3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LAMTOR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- guanyl-nucleotide exchange factor
- protein binding
- Roadblock/LC7 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- growth failure
- immunodeficiency due to defect in MAPBP-interacting protein
- Alzheimer disease
role in cell
- proliferation
- growth
- apoptosis
- expression in
- activation in
- phosphorylation in
- phagocytosis by
- killing
- recruitment
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Plasma Membrane
- tertiary granule membrane
- specific granule membrane
- lysosome membrane
- endosomal membrane
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LAMTOR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to amino acid stimulus
- regulation of cell growth
- protein localization
- positive regulation of MAPK cascade
- fibroblast migration
- positive regulation of TOR signaling cascade
Cellular Component
Where in the cell the gene product is active
- late endosome membrane
- late endosome
- Ragulator complex
- endosome membrane
- plasma membrane
- tertiary granule membrane
- lysosomal membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- binding, bridging