NEDD4 NEDD4 E3 ubiquitin protein ligase
Gene ID: 4734, updated on 10-Oct-2024Gene type: protein coding
Also known as: RPF1; NEDD4-1
- See all available tests in GTR for this gene
- Go to complete Gene record for NEDD4
- Go to Variation Viewer for NEDD4 variants
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. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. GeneReviews: Not available | |
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. GeneReviews: Not available | |
| Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. GeneReviews: Not available |
Genomic context
- Location:
- 15q21.3
- Sequence:
- Chromosome: 15; NC_000015.10 (55826917..55993612, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NEDD4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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