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
Y97E10AR.7
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