LongevityMap Gene
Gene details
- HGNC symbol
- LAMTOR2
- Aliases
- p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2
- Common name
- late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
- Description
- 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]
- Cytogenetic Location
- 1q22
- UCSC Genome Browser
- View 1q22 on the UCSC genome browser
- OMIM
- 610389
- Ensembl
- ENSG00000116586
- UniProt/Swiss-Prot
- LTOR2_HUMAN
- Entrez Gene
- 28956
- UniGene
- 632483
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- lmtr-2
- Danio rerio
- lamtor2
- Drosophila melanogaster
- CG5189
- Mus musculus
- Lamtor2
- Rattus norvegicus
- Lamtor2
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- 1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
- Conclusions
- As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
- Indentifier
- LAMTOR2
- Reference