NEDD4L

NEDD4 like E3 ubiquitin protein ligase

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. [provided by RefSeq, Mar 2012]

Known Variants855 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75982813	18:55,711,008	A/G	regulatory region variant	—
rs191426746	18:55,711,296	C/A	—	benign
rs184321986	18:55,711,345	G/A	—	likely benign
rs9953520	18:55,711,354	G/C	—	benign
rs4496245	18:55,711,618	T/G	—	benign
rs527834236	18:55,711,666	C/T	—	benign
rs761440684	18:55,711,847	C/T	—	benign
rs113358301	18:55,711,867	C/T	—	benign
rs2511609121	18:55,711,894	T/C	—	uncertain significance
rs749703355	18:55,711,898	G/A	—	likely benign
rs774159867	18:55,711,903	G/T	—	uncertain significance
rs201307997	18:55,711,905	C/T	—	likely benign
rs2081489841	18:55,711,907	C/T	—	likely benign
rs551206250	18:55,711,913	G/T	—	likely benign
rs2144325752	18:55,711,914	C/T	—	uncertain significance
rs375577826	18:55,711,915	C/T	—	uncertain significance
rs1484513039	18:55,711,916	G/A	—	likely benign
rs2081490569	18:55,711,919	C/T	—	likely benign
rs760237657	18:55,711,921	A/G	—	uncertain significance
rs1392756435	18:55,711,930	C/G	—	likely benign
rs753674370	18:55,711,931	C/G	—	likely benign
rs2511609518	18:55,711,932	G/A	—	uncertain significance
rs1176129020	18:55,711,934	A/G	—	likely benign
rs2511609584	18:55,711,943	G/A	—	uncertain significance
rs2144326212	18:55,711,945	G/A	—	uncertain significance
rs1325638189	18:55,711,946	T/C	—	uncertain significance
rs370474979	18:55,711,947	G/A	—	likely benign
rs751788981	18:55,711,951	C/G	—	likely benign
rs372316024	18:55,711,954	C/T	—	likely benign
rs200562877	18:55,711,968	A/C	—	benign
rs371239651	18:55,711,971	C/T	—	benign
rs116395340	18:55,712,021	C/G	—	benign
rs74431300	18:55,712,191	G/C	—	benign
rs9957225	18:55,712,203	C/T	—	benign
rs7235890	18:55,732,115	G/C	—	—
rs529445	18:55,783,497	C/A	intron variant	—
rs512099	18:55,795,966	C/T	intron variant	—
rs549476	18:55,810,733	A/G	regulatory region variant	—
rs4149597	18:55,816,329	G/A	—	benign
rs4149598	18:55,816,437	A/G	—	benign
rs545901979	18:55,816,753	A/G	—	benign
rs4149601	18:55,816,791	G/A	intron variant	benign
rs186145709	18:55,816,835	C/T	—	benign
rs146971159	18:55,816,973	C/A	—	likely benign
rs1452103721	18:55,829,901	A/G	—	uncertain significance
rs565757	18:55,832,750	A/G	—	benign
rs78522792	18:55,832,817	C/G	—	likely benign
rs564442	18:55,832,896	C/T	—	benign
rs7239316	18:55,832,966	G/A	—	likely benign
rs2511819992	18:55,833,002	T/C	—	likely benign
rs1171824275	18:55,833,004	G/T	—	likely benign
rs199921263	18:55,833,009	C/T	—	likely benign
rs375043092	18:55,833,014	T/C	—	likely benign
rs2146617418	18:55,833,020	G/A	—	uncertain significance
rs373553230	18:55,833,029	C/T	—	likely benign
rs375068828	18:55,833,030	G/A	—	conflicting classifications of pathogenicity
rs2511820985	18:55,833,054	C/T	—	uncertain significance
rs369540935	18:55,833,067	C/T	—	likely benign
rs771098028	18:55,833,068	G/A	—	conflicting classifications of pathogenicity
rs2146618039	18:55,833,072	A/G	—	uncertain significance
rs2036786192	18:55,833,092	A/G	—	uncertain significance
rs1054693602	18:55,833,100	T/A	—	likely benign
rs115907798	18:55,833,102	G/C	—	likely benign
rs753257618	18:55,833,106	T/A	—	likely benign
rs2146618642	18:55,833,108	T/G	—	likely benign
rs764687544	18:55,833,110	T/A	—	benign
rs75013006	18:55,833,247	C/T	—	likely benign
rs75403298	18:55,833,385	G/T	—	likely benign
rs1008899	18:55,862,847	G/A	coding sequence variant	—
rs513563	18:55,874,441	C/G	—	—
rs1399115202	18:55,888,976	G/A	—	uncertain significance
rs292449	18:55,895,081	G/C	intron variant	—
rs158856	18:55,910,523	C/T	intron variant	—
rs78843982	18:55,912,422	G/C	—	benign
rs150385	18:55,912,423	T/C	—	benign
rs2513447805	18:55,912,643	A/T	—	likely benign
rs777946856	18:55,912,656	C/T	—	likely benign
rs2513448254	18:55,912,663	C/T	—	uncertain significance
rs1168022706	18:55,912,664	C/T	—	uncertain significance
rs564001263	18:55,912,665	G/T	—	likely benign
rs2513448404	18:55,912,670	T/C	—	uncertain significance
rs2047139560	18:55,912,673	A/G	—	benign
rs2047139718	18:55,912,681	T/C	—	likely benign
rs1600177605	18:55,912,687	G/A	—	uncertain significance
rs2047140223	18:55,912,691	C/T	—	uncertain significance
rs780349353	18:55,912,692	G/A	—	likely benign
rs1053560286	18:55,912,693	G/A	—	benign
rs200025824	18:55,912,699	A/G	—	likely benign
rs2148411903	18:55,912,708	C/T	—	likely benign
rs1340214656	18:55,912,719	C/T	—	likely benign
rs2148412041	18:55,912,727	A/C	—	uncertain significance
rs910907201	18:55,912,730	C/A	—	benign
rs747682359	18:55,912,745	G/C	—	uncertain significance
rs771425025	18:55,912,749	C/T	—	likely benign
rs761901138	18:55,912,750	G/A	—	likely benign
rs375485966	18:55,912,752	T/A	—	likely benign
rs71355689	18:55,913,015	T/C	—	benign
rs2304020	18:55,915,969	C/G	—	benign
rs2513532156	18:55,916,111	C/G	—	likely benign
rs1267898925	18:55,916,127	C/G	—	likely benign

Showing 100 of 855 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.