NEDD4

Chr 15

NEDD4 E3 ubiquitin protein ligase

Also known as: NEDD4-1, RPF1

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. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…
0
Active trials
216
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.63
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.000
Z-score 4.08
OE 0.47 (0.35–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.23Z-score
OE missense 0.98 (0.91–1.04)
631 obs / 647.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.35–0.63)
0≤0.351.4
Missense OE?0.98 (0.91–1.04)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 32 / 68.4Missense obs/exp: 631 / 647.1Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NEDD4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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