Gene: NEDD4L

Alternate names for this Gene: NEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.31

Description of this Gene: NEDD4 like E3 ubiquitin protein ligase

Type of Gene: protein-coding

rs17064520 in NEDD4L gene and Asthma PMID 11022011 2000 A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.

rs7235890 in NEDD4L gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs10439056 in NEDD4L gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12454023 in NEDD4L gene and Migraine Disorders PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs12454023 in NEDD4L gene and Migraine with Aura PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs879255596 in NEDD4L gene and PERIVENTRICULAR NODULAR HETEROTOPIA 7 PMID 27694961 2016 Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

rs487990 in NEDD4L gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17808190 in NEDD4L gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.