Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23327
Gene name	NEDD4 like E3 ubiquitin protein ligase
Gene symbol	NEDD4L
Synonyms (NCBI Gene)	NEDD4-2NEDD4.2PVNH7RSP5hNEDD4-2
Chromosome	18
Chromosome location	18q21.31
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4149601	G>A	Drug-response	Coding sequence variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, intron variant

585

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030590	hsa-miR-24-3p	Microarray	19748357
MIRT038151	hsa-miR-423-5p	CLASH	23622248
MIRT036071	hsa-miR-1296-5p	CLASH	23622248
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT461512	hsa-miR-4257	PAR-CLIP	23592263
MIRT461511	hsa-miR-4459	PAR-CLIP	23592263
MIRT461510	hsa-miR-665	PAR-CLIP	23592263
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	23592263
MIRT461508	hsa-miR-5186	PAR-CLIP	23592263
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT461506	hsa-miR-558	PAR-CLIP	23592263
MIRT461505	hsa-miR-4487	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	23592263
MIRT461503	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461502	hsa-miR-6086	PAR-CLIP	23592263
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT461500	hsa-miR-3612	PAR-CLIP	23592263
MIRT461499	hsa-miR-650	PAR-CLIP	23592263
MIRT461498	hsa-miR-4792	PAR-CLIP	23592263
MIRT461497	hsa-miR-4710	PAR-CLIP	23592263
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	23592263
MIRT461495	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	26701625
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT461500	hsa-miR-3612	PAR-CLIP	26701625
MIRT461503	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT461512	hsa-miR-4257	PAR-CLIP	26701625
MIRT461511	hsa-miR-4459	PAR-CLIP	26701625
MIRT461505	hsa-miR-4487	PAR-CLIP	26701625
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT461497	hsa-miR-4710	PAR-CLIP	26701625
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	26701625
MIRT461498	hsa-miR-4792	PAR-CLIP	26701625
MIRT461506	hsa-miR-558	PAR-CLIP	26701625
MIRT461502	hsa-miR-6086	PAR-CLIP	26701625
MIRT461499	hsa-miR-650	PAR-CLIP	26701625
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT461510	hsa-miR-665	PAR-CLIP	26701625
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	26701625
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT733722	hsa-miR-3679-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	33748098
MIRT734164	hsa-miR-513a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blotting	31805126
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT545531	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545530	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT545529	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT545528	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545527	hsa-miR-3924	PAR-CLIP	21572407
MIRT461515	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT461514	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT461513	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT461512	hsa-miR-4257	PAR-CLIP	23592263
MIRT461511	hsa-miR-4459	PAR-CLIP	23592263
MIRT461510	hsa-miR-665	PAR-CLIP	23592263
MIRT461509	hsa-miR-4786-3p	PAR-CLIP	23592263
MIRT461508	hsa-miR-5186	PAR-CLIP	23592263
MIRT461507	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT461506	hsa-miR-558	PAR-CLIP	23592263
MIRT461505	hsa-miR-4487	PAR-CLIP	23592263
MIRT461504	hsa-miR-1827	PAR-CLIP	23592263
MIRT461503	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT461502	hsa-miR-6086	PAR-CLIP	23592263
MIRT461501	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT461500	hsa-miR-3612	PAR-CLIP	23592263
MIRT461499	hsa-miR-650	PAR-CLIP	23592263
MIRT461498	hsa-miR-4792	PAR-CLIP	23592263
MIRT461497	hsa-miR-4710	PAR-CLIP	23592263
MIRT461496	hsa-miR-7843-3p	PAR-CLIP	23592263
MIRT461495	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT461494	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT1179808	hsa-miR-10a	CLIP-seq
MIRT1179809	hsa-miR-10b	CLIP-seq
MIRT1179810	hsa-miR-193a-3p	CLIP-seq
MIRT1179811	hsa-miR-193b	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179814	hsa-miR-3937	CLIP-seq
MIRT1179815	hsa-miR-4476	CLIP-seq
MIRT1179816	hsa-miR-4682	CLIP-seq
MIRT1179817	hsa-miR-4690-5p	CLIP-seq
MIRT1179818	hsa-miR-622	CLIP-seq
MIRT1179819	hsa-miR-873	CLIP-seq
MIRT1179820	hsa-miR-892b	CLIP-seq
MIRT1179821	hsa-miR-935	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT1179835	hsa-miR-548v	CLIP-seq
MIRT1179836	hsa-miR-610	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179839	hsa-miR-129-5p	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179840	hsa-miR-2355-3p	CLIP-seq
MIRT1179841	hsa-miR-3136-3p	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179843	hsa-miR-3670	CLIP-seq
MIRT1179844	hsa-miR-3677-5p	CLIP-seq
MIRT1179845	hsa-miR-3682-5p	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT1179850	hsa-miR-4646-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT1179852	hsa-miR-606	CLIP-seq
MIRT1179853	hsa-miR-663b	CLIP-seq
MIRT1179854	hsa-miR-676	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179855	hsa-miR-1284	CLIP-seq
MIRT1179856	hsa-miR-2682	CLIP-seq
MIRT1179857	hsa-miR-300	CLIP-seq
MIRT1179858	hsa-miR-3152-5p	CLIP-seq
MIRT1179859	hsa-miR-3158-3p	CLIP-seq
MIRT1179860	hsa-miR-3158-5p	CLIP-seq
MIRT1179861	hsa-miR-3179	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT1179843	hsa-miR-3670	CLIP-seq
MIRT1179866	hsa-miR-3678-3p	CLIP-seq
MIRT1179867	hsa-miR-3690	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179868	hsa-miR-381	CLIP-seq
MIRT1179869	hsa-miR-4254	CLIP-seq
MIRT1179870	hsa-miR-4261	CLIP-seq
MIRT1179871	hsa-miR-4269	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT1179874	hsa-miR-449c	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179877	hsa-miR-4666-3p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT1179880	hsa-miR-4742-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179882	hsa-miR-4763-5p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT1179884	hsa-miR-4774-3p	CLIP-seq
MIRT1179885	hsa-miR-510	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT1179888	hsa-miR-548aa	CLIP-seq
MIRT1179889	hsa-miR-548ac	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT1179891	hsa-miR-548d-3p	CLIP-seq
MIRT1179892	hsa-miR-548z	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT1179895	hsa-miR-602	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT1179897	hsa-miR-875-3p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT2052000	hsa-miR-1183	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2052002	hsa-miR-1226	CLIP-seq
MIRT2052003	hsa-miR-127-5p	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT2052004	hsa-miR-3137	CLIP-seq
MIRT1179861	hsa-miR-3179	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT2052005	hsa-miR-34a	CLIP-seq
MIRT2052006	hsa-miR-34c-5p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT1179867	hsa-miR-3690	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT1179869	hsa-miR-4254	CLIP-seq
MIRT1179870	hsa-miR-4261	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2052007	hsa-miR-449a	CLIP-seq
MIRT2052008	hsa-miR-449b	CLIP-seq
MIRT2052009	hsa-miR-4635	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT2052011	hsa-miR-4789-5p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2052012	hsa-miR-616	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2052013	hsa-miR-664	CLIP-seq
MIRT1179897	hsa-miR-875-3p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281201	hsa-let-7a	CLIP-seq
MIRT2281202	hsa-let-7b	CLIP-seq
MIRT2281203	hsa-let-7c	CLIP-seq
MIRT2281204	hsa-let-7d	CLIP-seq
MIRT2281205	hsa-let-7e	CLIP-seq
MIRT2281206	hsa-let-7f	CLIP-seq
MIRT2281207	hsa-let-7g	CLIP-seq
MIRT2281208	hsa-let-7i	CLIP-seq
MIRT2281209	hsa-miR-105	CLIP-seq
MIRT1179808	hsa-miR-10a	CLIP-seq
MIRT1179809	hsa-miR-10b	CLIP-seq
MIRT2281210	hsa-miR-1179	CLIP-seq
MIRT2281211	hsa-miR-1197	CLIP-seq
MIRT2281212	hsa-miR-1202	CLIP-seq
MIRT2281213	hsa-miR-1207-5p	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2281214	hsa-miR-1224-3p	CLIP-seq
MIRT2281215	hsa-miR-1224-5p	CLIP-seq
MIRT2052002	hsa-miR-1226	CLIP-seq
MIRT2281216	hsa-miR-1229	CLIP-seq
MIRT2281217	hsa-miR-1245	CLIP-seq
MIRT2281218	hsa-miR-1260	CLIP-seq
MIRT2281219	hsa-miR-1260b	CLIP-seq
MIRT2281220	hsa-miR-1265	CLIP-seq
MIRT2281221	hsa-miR-1267	CLIP-seq
MIRT2281222	hsa-miR-1270	CLIP-seq
MIRT2281223	hsa-miR-1273e	CLIP-seq
MIRT2052003	hsa-miR-127-5p	CLIP-seq
MIRT2281224	hsa-miR-1280	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT2281225	hsa-miR-1298	CLIP-seq
MIRT2281226	hsa-miR-1323	CLIP-seq
MIRT2281227	hsa-miR-1324	CLIP-seq
MIRT2281228	hsa-miR-135a	CLIP-seq
MIRT2281229	hsa-miR-135b	CLIP-seq
MIRT2281230	hsa-miR-142-5p	CLIP-seq
MIRT2281231	hsa-miR-145	CLIP-seq
MIRT2281232	hsa-miR-1909	CLIP-seq
MIRT2281233	hsa-miR-191	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT2281235	hsa-miR-1911	CLIP-seq
MIRT2281236	hsa-miR-196a	CLIP-seq
MIRT2281237	hsa-miR-196b	CLIP-seq
MIRT2281238	hsa-miR-200b	CLIP-seq
MIRT2281239	hsa-miR-200c	CLIP-seq
MIRT2281240	hsa-miR-203	CLIP-seq
MIRT2281241	hsa-miR-205	CLIP-seq
MIRT2281242	hsa-miR-2052	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT2281243	hsa-miR-23a	CLIP-seq
MIRT2281244	hsa-miR-23b	CLIP-seq
MIRT2281245	hsa-miR-23c	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT2281246	hsa-miR-25	CLIP-seq
MIRT2281247	hsa-miR-27a	CLIP-seq
MIRT2281248	hsa-miR-27b	CLIP-seq
MIRT2281249	hsa-miR-3065-3p	CLIP-seq
MIRT2281250	hsa-miR-3065-5p	CLIP-seq
MIRT2281251	hsa-miR-30a	CLIP-seq
MIRT2281252	hsa-miR-30b	CLIP-seq
MIRT2281253	hsa-miR-30c	CLIP-seq
MIRT2281254	hsa-miR-30d	CLIP-seq
MIRT2281255	hsa-miR-30e	CLIP-seq
MIRT2281256	hsa-miR-3120-3p	CLIP-seq
MIRT2281257	hsa-miR-3120-5p	CLIP-seq
MIRT2052004	hsa-miR-3137	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2281259	hsa-miR-3144-3p	CLIP-seq
MIRT2281260	hsa-miR-3150b-3p	CLIP-seq
MIRT2281261	hsa-miR-3161	CLIP-seq
MIRT2281262	hsa-miR-3173-3p	CLIP-seq
MIRT2281263	hsa-miR-3177-5p	CLIP-seq
MIRT2281264	hsa-miR-3185	CLIP-seq
MIRT2281265	hsa-miR-3194-5p	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT2281266	hsa-miR-32	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT2281267	hsa-miR-342-3p	CLIP-seq
MIRT2281268	hsa-miR-342-5p	CLIP-seq
MIRT2281269	hsa-miR-3591-5p	CLIP-seq
MIRT2281270	hsa-miR-3609	CLIP-seq
MIRT2281271	hsa-miR-3613-3p	CLIP-seq
MIRT2281272	hsa-miR-361-5p	CLIP-seq
MIRT1179864	hsa-miR-3622a-3p	CLIP-seq
MIRT1179865	hsa-miR-3622b-3p	CLIP-seq
MIRT2281273	hsa-miR-363	CLIP-seq
MIRT2281274	hsa-miR-3660	CLIP-seq
MIRT2281275	hsa-miR-3664-5p	CLIP-seq
MIRT2281276	hsa-miR-367	CLIP-seq
MIRT2281277	hsa-miR-3688-3p	CLIP-seq
MIRT2281278	hsa-miR-3692	CLIP-seq
MIRT2281279	hsa-miR-380	CLIP-seq
MIRT2281280	hsa-miR-3908	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT2281282	hsa-miR-3918	CLIP-seq
MIRT2281283	hsa-miR-3921	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT1179814	hsa-miR-3937	CLIP-seq
MIRT2281284	hsa-miR-3972	CLIP-seq
MIRT2281285	hsa-miR-409-3p	CLIP-seq
MIRT1179825	hsa-miR-4252	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT2281287	hsa-miR-4267	CLIP-seq
MIRT2281288	hsa-miR-4280	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT2281289	hsa-miR-4287	CLIP-seq
MIRT2281290	hsa-miR-429	CLIP-seq
MIRT1179827	hsa-miR-4293	CLIP-seq
MIRT2281291	hsa-miR-4303	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT2281292	hsa-miR-432	CLIP-seq
MIRT2281293	hsa-miR-4328	CLIP-seq
MIRT2281294	hsa-miR-4330	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT2281295	hsa-miR-4428	CLIP-seq
MIRT2281296	hsa-miR-4432	CLIP-seq
MIRT1179872	hsa-miR-4433	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT2281297	hsa-miR-4436a	CLIP-seq
MIRT2281298	hsa-miR-4436b-3p	CLIP-seq
MIRT2281299	hsa-miR-4453	CLIP-seq
MIRT2281300	hsa-miR-4458	CLIP-seq
MIRT2281301	hsa-miR-4462	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT2281302	hsa-miR-4469	CLIP-seq
MIRT2281303	hsa-miR-4474-5p	CLIP-seq
MIRT1179815	hsa-miR-4476	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2281304	hsa-miR-4500	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT2281305	hsa-miR-4519	CLIP-seq
MIRT2281306	hsa-miR-451b	CLIP-seq
MIRT2281307	hsa-miR-4522	CLIP-seq
MIRT2281308	hsa-miR-4526	CLIP-seq
MIRT2281309	hsa-miR-4530	CLIP-seq
MIRT2281310	hsa-miR-4531	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281311	hsa-miR-4535	CLIP-seq
MIRT2281312	hsa-miR-4538	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT2052009	hsa-miR-4635	CLIP-seq
MIRT2281314	hsa-miR-4640-5p	CLIP-seq
MIRT2281315	hsa-miR-4643	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT2281316	hsa-miR-4653-5p	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT2281317	hsa-miR-4664-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179816	hsa-miR-4682	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT2281319	hsa-miR-4685-3p	CLIP-seq
MIRT2281320	hsa-miR-4685-5p	CLIP-seq
MIRT1179817	hsa-miR-4690-5p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT2281321	hsa-miR-4696	CLIP-seq
MIRT2281322	hsa-miR-4700-3p	CLIP-seq
MIRT2281323	hsa-miR-4703-3p	CLIP-seq
MIRT2281324	hsa-miR-4709-3p	CLIP-seq
MIRT2281325	hsa-miR-4716-5p	CLIP-seq
MIRT2281326	hsa-miR-4717-3p	CLIP-seq
MIRT2281327	hsa-miR-4719	CLIP-seq
MIRT2281328	hsa-miR-4726-5p	CLIP-seq
MIRT2281329	hsa-miR-4727-5p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT2281330	hsa-miR-4751	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT2281331	hsa-miR-4762-3p	CLIP-seq
MIRT2281332	hsa-miR-4763-3p	CLIP-seq
MIRT1179883	hsa-miR-4768-3p	CLIP-seq
MIRT2281333	hsa-miR-4768-5p	CLIP-seq
MIRT2281334	hsa-miR-4769-3p	CLIP-seq
MIRT2281335	hsa-miR-4774-5p	CLIP-seq
MIRT2281336	hsa-miR-4776-5p	CLIP-seq
MIRT2281337	hsa-miR-4784	CLIP-seq
MIRT2281338	hsa-miR-4785	CLIP-seq
MIRT2281339	hsa-miR-4789-3p	CLIP-seq
MIRT2052011	hsa-miR-4789-5p	CLIP-seq
MIRT1179832	hsa-miR-4793-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT2281340	hsa-miR-489	CLIP-seq
MIRT2281341	hsa-miR-492	CLIP-seq
MIRT2281342	hsa-miR-496	CLIP-seq
MIRT1179834	hsa-miR-508-5p	CLIP-seq
MIRT2281343	hsa-miR-513b	CLIP-seq
MIRT2281344	hsa-miR-532-3p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179887	hsa-miR-544b	CLIP-seq
MIRT2281345	hsa-miR-548a-3p	CLIP-seq
MIRT2281346	hsa-miR-548a-5p	CLIP-seq
MIRT1179888	hsa-miR-548aa	CLIP-seq
MIRT2281347	hsa-miR-548ab	CLIP-seq
MIRT1179889	hsa-miR-548ac	CLIP-seq
MIRT2281348	hsa-miR-548ae	CLIP-seq
MIRT2281349	hsa-miR-548ah	CLIP-seq
MIRT2281350	hsa-miR-548aj	CLIP-seq
MIRT2281351	hsa-miR-548ak	CLIP-seq
MIRT2281352	hsa-miR-548al	CLIP-seq
MIRT2281353	hsa-miR-548am	CLIP-seq
MIRT2281354	hsa-miR-548b-5p	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2281355	hsa-miR-548c-5p	CLIP-seq
MIRT1179891	hsa-miR-548d-3p	CLIP-seq
MIRT2281356	hsa-miR-548d-5p	CLIP-seq
MIRT2281357	hsa-miR-548e	CLIP-seq
MIRT2281358	hsa-miR-548f	CLIP-seq
MIRT2281359	hsa-miR-548h	CLIP-seq
MIRT2281360	hsa-miR-548i	CLIP-seq
MIRT2281361	hsa-miR-548j	CLIP-seq
MIRT2281362	hsa-miR-548n	CLIP-seq
MIRT2281363	hsa-miR-548o	CLIP-seq
MIRT1179835	hsa-miR-548v	CLIP-seq
MIRT2281364	hsa-miR-548w	CLIP-seq
MIRT2281365	hsa-miR-548x	CLIP-seq
MIRT2281366	hsa-miR-548y	CLIP-seq
MIRT1179892	hsa-miR-548z	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT2281367	hsa-miR-555	CLIP-seq
MIRT2281368	hsa-miR-559	CLIP-seq
MIRT2281369	hsa-miR-570	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2281370	hsa-miR-582-3p	CLIP-seq
MIRT2281371	hsa-miR-593	CLIP-seq
MIRT2281372	hsa-miR-600	CLIP-seq
MIRT1179836	hsa-miR-610	CLIP-seq
MIRT2052012	hsa-miR-616	CLIP-seq
MIRT2281373	hsa-miR-620	CLIP-seq
MIRT2281374	hsa-miR-634	CLIP-seq
MIRT2281375	hsa-miR-642a	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2281376	hsa-miR-668	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT2281377	hsa-miR-759	CLIP-seq
MIRT2281378	hsa-miR-764	CLIP-seq
MIRT2281379	hsa-miR-765	CLIP-seq
MIRT1179838	hsa-miR-766	CLIP-seq
MIRT1179819	hsa-miR-873	CLIP-seq
MIRT2281380	hsa-miR-875-5p	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281381	hsa-miR-92a	CLIP-seq
MIRT2281382	hsa-miR-92b	CLIP-seq
MIRT1179821	hsa-miR-935	CLIP-seq
MIRT2281383	hsa-miR-98	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2052001	hsa-miR-1208	CLIP-seq
MIRT2281220	hsa-miR-1265	CLIP-seq
MIRT1179822	hsa-miR-1294	CLIP-seq
MIRT2281240	hsa-miR-203	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179824	hsa-miR-24	CLIP-seq
MIRT1179856	hsa-miR-2682	CLIP-seq
MIRT2281258	hsa-miR-3140-5p	CLIP-seq
MIRT2281263	hsa-miR-3177-5p	CLIP-seq
MIRT2281269	hsa-miR-3591-5p	CLIP-seq
MIRT2281272	hsa-miR-361-5p	CLIP-seq
MIRT2281279	hsa-miR-380	CLIP-seq
MIRT1179871	hsa-miR-4269	CLIP-seq
MIRT2281288	hsa-miR-4280	CLIP-seq
MIRT1179826	hsa-miR-4284	CLIP-seq
MIRT1179828	hsa-miR-4316	CLIP-seq
MIRT1179829	hsa-miR-4466	CLIP-seq
MIRT1179874	hsa-miR-449c	CLIP-seq
MIRT1179875	hsa-miR-4514	CLIP-seq
MIRT2281315	hsa-miR-4643	CLIP-seq
MIRT2052010	hsa-miR-466	CLIP-seq
MIRT1179830	hsa-miR-4677-3p	CLIP-seq
MIRT1179879	hsa-miR-4692	CLIP-seq
MIRT1179880	hsa-miR-4742-5p	CLIP-seq
MIRT1179831	hsa-miR-4746-3p	CLIP-seq
MIRT2281339	hsa-miR-4789-3p	CLIP-seq
MIRT1179885	hsa-miR-510	CLIP-seq
MIRT1179895	hsa-miR-602	CLIP-seq
MIRT2281376	hsa-miR-668	CLIP-seq
MIRT1179837	hsa-miR-675	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT1179813	hsa-miR-376c	CLIP-seq
MIRT2579565	hsa-miR-1184	CLIP-seq
MIRT2579566	hsa-miR-1205	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT2281257	hsa-miR-3120-5p	CLIP-seq
MIRT1179860	hsa-miR-3158-5p	CLIP-seq
MIRT2579567	hsa-miR-3166	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT1179863	hsa-miR-338-3p	CLIP-seq
MIRT2281275	hsa-miR-3664-5p	CLIP-seq
MIRT2579568	hsa-miR-3665	CLIP-seq
MIRT2579569	hsa-miR-3675-3p	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT2579570	hsa-miR-3944-5p	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT2281294	hsa-miR-4330	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT2281296	hsa-miR-4432	CLIP-seq
MIRT1179873	hsa-miR-4435	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT2281306	hsa-miR-451b	CLIP-seq
MIRT2281307	hsa-miR-4522	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT2281321	hsa-miR-4696	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT2579571	hsa-miR-4771	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2579572	hsa-miR-548g	CLIP-seq
MIRT1179893	hsa-miR-550a	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT2579573	hsa-miR-584	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2579574	hsa-miR-657	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq
MIRT2281234	hsa-miR-1910	CLIP-seq
MIRT1179823	hsa-miR-2054	CLIP-seq
MIRT1179842	hsa-miR-3197	CLIP-seq
MIRT1179812	hsa-miR-3202	CLIP-seq
MIRT1179862	hsa-miR-323-5p	CLIP-seq
MIRT2579568	hsa-miR-3665	CLIP-seq
MIRT2579569	hsa-miR-3675-3p	CLIP-seq
MIRT2281281	hsa-miR-3909	CLIP-seq
MIRT1179846	hsa-miR-3929	CLIP-seq
MIRT2579570	hsa-miR-3944-5p	CLIP-seq
MIRT2281286	hsa-miR-4264	CLIP-seq
MIRT1179847	hsa-miR-4419b	CLIP-seq
MIRT1179848	hsa-miR-4478	CLIP-seq
MIRT1179849	hsa-miR-4533	CLIP-seq
MIRT2281313	hsa-miR-455-3p	CLIP-seq
MIRT1179851	hsa-miR-4649-3p	CLIP-seq
MIRT1179876	hsa-miR-4662a-5p	CLIP-seq
MIRT1179878	hsa-miR-4676-5p	CLIP-seq
MIRT2281318	hsa-miR-4684-5p	CLIP-seq
MIRT1179881	hsa-miR-4755-3p	CLIP-seq
MIRT1179833	hsa-miR-4797-5p	CLIP-seq
MIRT1179886	hsa-miR-541	CLIP-seq
MIRT1179890	hsa-miR-548c-3p	CLIP-seq
MIRT2579572	hsa-miR-548g	CLIP-seq
MIRT1179894	hsa-miR-575	CLIP-seq
MIRT1179896	hsa-miR-654-5p	CLIP-seq
MIRT2579574	hsa-miR-657	CLIP-seq
MIRT1179898	hsa-miR-876-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SUPT3H	Activation	8649367

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003254	Process	Regulation of membrane depolarization	IDA	15217910
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	11244092
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	11244092, 15677482, 18577513, 19664597, 19706893, 20086093, 20936779, 22024150, 22921829, 23236378, 23529131, 23686771, 23873930, 25416956, 26854353, 27445338, 28514442, 31980649, 32296183, 33961781, 34927784, 35271311, 36931259, 38270169
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005771	Component	Multivesicular body	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	22879586
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	17502380, 21463633
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006513	Process	Protein monoubiquitination	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0016324	Component	Apical plasma membrane	IDA	18174164
GO:0016567	Process	Protein ubiquitination	IDA	15217910, 17289006, 18577513, 25631046
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	27445338
GO:0016740	Function	Transferase activity	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	11244092
GO:0019870	Function	Potassium channel inhibitor activity	IDA	17289006, 21463633
GO:0019871	Function	Sodium channel inhibitor activity	IBA
GO:0019871	Function	Sodium channel inhibitor activity	IDA	15217910
GO:0019871	Function	Sodium channel inhibitor activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031175	Process	Neuron projection development	IBA
GO:0031623	Process	Receptor internalization	IBA
GO:0031647	Process	Regulation of protein stability	IMP	27445338
GO:0032801	Process	Receptor catabolic process	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	21463633
GO:0044325	Function	Transmembrane transporter binding	IPI	15217910, 17289006, 21463633
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IBA
GO:0050807	Process	Regulation of synapse organization	IBA
GO:0060306	Process	Regulation of membrane repolarization	IDA	21463633
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	17502380
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	21463633
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS	22879586
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	17502380, 32729833
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IDA	21463633
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	11244092
GO:1902306	Process	Negative regulation of sodium ion transmembrane transport	IDA	15217910
GO:1903765	Process	Negative regulation of potassium ion export across plasma membrane	IDA	17289006
GO:1903783	Process	Negative regulation of sodium ion import across plasma membrane	IDA	18174164
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:2000009	Process	Negative regulation of protein localization to cell surface	IDA	21463633
GO:2001288	Process	Positive regulation of caveolin-mediated endocytosis	ISS	22879586

MIM	HGNC	e!Ensembl
606384	7728	ENSG00000049759

Q96PU5

Protein name

E3 ubiquitin-protein ligase NEDD4-like (EC 2.3.2.26) (EC 2.3.2.36) (HECT-type E3 ubiquitin transferase NED4L) (NEDD4.2) (Nedd4-2)

Protein function

E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair (Pub

PDB

2LAJ , 2LB2 , 2LTY , 2MPT , 2NSQ , 2ONI , 3JVZ , 3JW0 , 5HPK , 6ZBT , 6ZC9 , 7LP1 , 7LP2 , 7LP3 , 7LP4 , 7LP5 , 7NMZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	20 → 127	C2 domain	Domain
PF00397	WW	195 → 224	WW domain	Domain
PF00397	WW	387 → 416	WW domain	Domain
PF00397	WW	499 → 528	WW domain	Domain
PF00397	WW	550 → 579	WW domain	Domain
PF00632	HECT	669 → 974	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in prostate, pancreas, and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:14615060, ECO:0000269|PubMed:15496141, E

Sequence

MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELAL
VQTKTIKKTLNPKWNEEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDP
TMERPYTFKDFLLRPRSHKSRVKGFLRLKMAYMPKNGGQDEENSDQRDDMEHGWEVVDSN
DSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPSLMDVSSESDNNIRQI
NQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGS
RTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPA
GRARSSTVTGGEEPTPSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQL
AEDGASGSATNSNNHLIEPQIRRPRSLSSPTVTLSAPLEGAKDSPVRRAVKDTLSNPQSP
QPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTWEDPRLKFPVHMRSKT
SLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQK
YDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDY
GGVAREWFFLLSKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLA
VFHGKLLDGFFIRPFYKMMLGKQITLNDMESVDSEYYNSLKWILENDPTELDLMFCIDEE
NFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMNAFLEGFTELLPIDLI
KIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQ
FVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREK
LLMAVENAQGFEGVD

Sequence length

975

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Endocytosis Tight junction Aldosterone-regulated sodium reabsorption		Budding and maturation of HIV virion Downregulation of SMAD2/3:SMAD4 transcriptional activity Stimuli-sensing channels Antigen processing: Ubiquitination & Proteasome degradation

186

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chromosome 5Q14.3 deletion syndrome, distal	Likely pathogenic; Pathogenic	rs879255597	RCV003493512
Intellectual disability	Likely pathogenic; Pathogenic	rs2059194330	RCV001257766
Periventricular nodular heterotopia 7	Likely pathogenic; Pathogenic	rs2059723813, rs879255599, rs879255598, rs879255597, rs2516772394, rs2046707868, rs2059194330	RCV002245299 RCV000258910 RCV000258902 RCV000258896 RCV003990250 RCV001031004 RCV001072145
Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay	Pathogenic; Likely pathogenic	rs879255599, rs879255598, rs879255597	RCV000239744 RCV000239730 RCV000239759

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs12968965	RCV005924806
Autism spectrum disorder	Likely benign	rs2518229775	RCV003128044
Cervical cancer	Benign	rs12968965	RCV005924807
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs748936457, rs1185926634	RCV005868554 RCV005902041
Developmental disorder	Likely benign	rs2145557222	RCV001843794
NEDD4L-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs2059009305, rs778823131, rs549070916, rs199527463, rs2149493416, rs370254467, rs12964776, rs2059007980, rs1601399749, rs2045856957, rs1188324271, rs1010706982, rs772380860, rs368435758, rs765522431 View all (18 more)	RCV003953661 RCV003908579 RCV003965960 RCV003921279 RCV003407868 RCV004753571 RCV003919972 RCV003416831 RCV003410697 RCV003405758 RCV003402149 RCV003392907 RCV004753715 RCV003897025 RCV003897108 RCV003901966 RCV003925392 RCV003932769 RCV003942574 RCV003892722 RCV004753056 RCV003948086 RCV003955570 RCV003918341 RCV003938230 RCV003965669 RCV003965691 RCV003948096 RCV003918391 RCV003920385 RCV003957950 RCV003918662 RCV003928686
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs199959002	RCV005899612
Primary dilated cardiomyopathy	Uncertain significance	rs1131690797	RCV000492069
See cases	Uncertain significance	rs748435237	RCV002287713
Seizure	Likely benign	rs1199827684	RCV002275465
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1002690517	RCV005931764
Uterine corpus endometrial carcinoma	Likely benign	rs373456688	RCV005907034

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33628780, 35090513, 37240137
Alzheimer Disease	Associate	22361880
Appendicitis	Associate	34319380
Arrhythmias Cardiac	Associate	33414395
Arsenic Poisoning	Associate	36436256
Asthma	Associate	25116239
Attention Deficit Disorder with Hyperactivity	Associate	19156173
Breast Neoplasms	Associate	29662198, 37005481
Carcinogenesis	Associate	29998764, 39596003
Carcinoma Non Small Cell Lung	Associate	31618441
Carcinoma Renal Cell	Associate	37580757
Carcinoma Renal Cell	Inhibit	39596003
Cardiomyopathy Dilated	Associate	28701297
Cleft Palate	Associate	30393983
Clubfoot	Associate	34087865
Colorectal Neoplasms	Inhibit	24312311
Contracture	Associate	30393983
Developmental Disabilities	Associate	34087865
Diabetes Mellitus	Associate	31506348
Diabetes Mellitus Type 2	Associate	23552671
Diabetic Nephropathies	Associate	19690890
Diastrophic dysplasia	Associate	20003179
Drug Related Side Effects and Adverse Reactions	Associate	31805126
Dyslexia	Associate	21060895, 24373531
Endometrial Neoplasms	Inhibit	29998764
Esophageal Squamous Cell Carcinoma	Inhibit	35593463
Essential Hypertension	Associate	18293164, 20003179, 24047422
Fetal Diseases	Associate	30393983
Fetal Growth Retardation	Associate	26374858
Fibrosis	Associate	36257596
Gallbladder Neoplasms	Stimulate	21039987
Glioma	Inhibit	31805126
Hematologic Diseases	Associate	16788695
Hypersensitivity Delayed	Associate	30393983
Hypertension	Associate	17487281, 17652939, 18293164, 20003179, 23549273, 24047422, 36039789
Hypokinesia	Associate	30393983
Idiopathic Pulmonary Fibrosis	Inhibit	36257596
Inflammation	Associate	25116239
Inflammation	Inhibit	36257596
Kidney Diseases	Associate	22688316
Liddle Syndrome	Associate	17502380
Lung Diseases	Inhibit	36257596
Lung Neoplasms	Associate	26581907
Lymphoma Large B Cell Diffuse	Associate	31775867
Lymphoma Non Hodgkin	Associate	19103148
Metabolic Syndrome	Associate	24446284
Multiple Myeloma	Associate	35236820
Neoplasm Metastasis	Associate	37240137
Neoplasms	Inhibit	24312311, 31673244
Neoplasms	Associate	35593463, 36052751, 38574817
Obesity	Associate	23549273
Odontodysplasia	Associate	38574817
Odontogenic Cyst Calcifying	Associate	38574817
Ovarian Diseases	Associate	31618441
Ovarian Neoplasms	Associate	26130719
Overweight	Associate	23549273
Periventricular Nodular Heterotopia	Associate	30393983, 34087865
Polycystic Ovary Syndrome	Associate	33622336
Pulmonary Disease Chronic Obstructive	Associate	25171373
Pulmonary Fibrosis	Inhibit	36257596
Stomach Neoplasms	Inhibit	31673244
Syndactyly	Associate	30393983

NEDD4L (NEDD4 like E3 ubiquitin protein ligase)