Gene: NEDD4

Alternate names for this Gene: NEDD4-1|RPF1

Gene Summary: This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.3

Description of this Gene: NEDD4 E3 ubiquitin protein ligase

Type of Gene: protein-coding

rs1863758 in NEDD4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1509406 in NEDD4 gene and Dupuytren Contracture PMID 28886342 2017 A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

rs8032158 in NEDD4 gene and Keloid PMID 20711176 2010 A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.

rs1912403 in NEDD4 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.