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