LongevityMap Gene

Gene details

HGNC symbol
NEDD4L 
Aliases
RSP5; PVNH7; NEDD4-2; NEDD4.2; hNEDD4-2 
Common name
neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 
Description
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Cytogenetic Location
18q21.31
UCSC Genome Browser
View 18q21.31 on the UCSC genome browser
OMIM
606384
Ensembl
ENSG00000049759
UniProt/Swiss-Prot
A0A024R281_HUMAN
Entrez Gene
23327
UniGene
185677
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
nedd4l
Mus musculus
Nedd4l
Rattus norvegicus
Nedd4l

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
German
Study Design
Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
Conclusions
Fifteen SNPs had indicative association with longevity, even if not statistically significant after correcting for multiple hypothesis testing. None of these SNPs were validated in the follow-up analysis. Since rs12741354 (in ASTN1) was nearly significant, it was further investigated in French centenarians but it failed to be associated with longevity.
Indentifier
rs158869
Reference