Home > Gene Browser > NEDD4L

NEDD4L

Synonyms
NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,128
Likely benign
4,561
Benign
256

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NEDD4L gene.

Phenotype class
Patients in 3billion (%)

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