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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8452
Gene name	Cullin 3
Gene symbol	CUL3
Synonyms (NCBI Gene)	CUL-3NEDAUSPHA2E
Chromosome	2
Chromosome location	2q36.2
Summary	This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase com

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SNP ID	Visualize variation	Clinical significance	Consequence
rs199469649	A>C	Pathogenic	Intron variant
rs199469650	T>C	Pathogenic	Intron variant
rs199469651	A>C	Pathogenic	Intron variant
rs199469652	A>T	Pathogenic	Intron variant
rs199469653	G>A	Pathogenic	Intron variant
rs199469654	C>T	Pathogenic	Splice acceptor variant
rs199469655	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs199469656	T>C	Pathogenic	Coding sequence variant, missense variant
rs199469657	CCTTTA>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs199469658	T>C	Pathogenic	Coding sequence variant, missense variant
rs199469659	->C	Pathogenic	Coding sequence variant, splice donor variant
rs199469660	C>G	Pathogenic	Splice donor variant
rs199469661	T>C	Pathogenic	Intron variant
rs201496024	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886038765	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1553521389	AG>-	Pathogenic	Stop gained, coding sequence variant
rs1553535841	T>C	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1553602498	G>A	Pathogenic	Stop gained, coding sequence variant
rs1574631977	C>T	Likely-pathogenic	Coding sequence variant, missense variant

467

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004141	hsa-miR-192-5p	Microarray	16822819
MIRT032239	hsa-let-7b-5p	Proteomics	18668040
MIRT048703	hsa-miR-99a-5p	CLASH	23622248
MIRT047577	hsa-miR-10a-5p	CLASH	23622248
MIRT040752	hsa-miR-18a-3p	CLASH	23622248
MIRT659260	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT659259	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT659258	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT659257	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT659256	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT659255	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT659253	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT659254	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT659252	hsa-miR-646	HITS-CLIP	23824327
MIRT659250	hsa-miR-4705	HITS-CLIP	23824327
MIRT659251	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT659249	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659248	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT659247	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT659246	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT538276	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT538275	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT538274	hsa-miR-3666	PAR-CLIP	21572407
MIRT538273	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT538272	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT538271	hsa-miR-4295	PAR-CLIP	21572407
MIRT538270	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT538269	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT538268	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT538267	hsa-miR-302e	PAR-CLIP	21572407
MIRT538266	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT538265	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT538264	hsa-miR-520b	PAR-CLIP	21572407
MIRT538263	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT538262	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT538261	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT538260	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT538259	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT538258	hsa-miR-520e	PAR-CLIP	21572407
MIRT538257	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT538256	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT538255	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT538254	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT538253	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT538252	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT538251	hsa-miR-3529-5p	PAR-CLIP	21572407
MIRT538250	hsa-miR-379-5p	PAR-CLIP	21572407
MIRT538249	hsa-miR-4451	PAR-CLIP	21572407
MIRT538248	hsa-miR-4536-5p	PAR-CLIP	21572407
MIRT538276	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT538275	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT538274	hsa-miR-3666	PAR-CLIP	22012620
MIRT538273	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT538272	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT538271	hsa-miR-4295	PAR-CLIP	22012620
MIRT538270	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT538269	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538268	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538267	hsa-miR-302e	PAR-CLIP	22012620
MIRT538266	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538265	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538264	hsa-miR-520b	PAR-CLIP	22012620
MIRT538263	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538262	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538260	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538259	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538258	hsa-miR-520e	PAR-CLIP	22012620
MIRT538257	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT538256	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT538255	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT538254	hsa-miR-3120-3p	PAR-CLIP	22012620
MIRT538253	hsa-miR-5197-3p	PAR-CLIP	22012620
MIRT538252	hsa-miR-4650-3p	PAR-CLIP	22012620
MIRT538251	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT538250	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT538249	hsa-miR-4451	PAR-CLIP	22012620
MIRT538248	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT447627	hsa-miR-1265	PAR-CLIP	22100165
MIRT447626	hsa-miR-511-3p	PAR-CLIP	22100165
MIRT447625	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT447624	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT447622	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447623	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT447621	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT447620	hsa-miR-591	PAR-CLIP	22100165
MIRT447619	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT447618	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT447617	hsa-miR-1266-3p	PAR-CLIP	22100165
MIRT447616	hsa-miR-4635	PAR-CLIP	22100165
MIRT447615	hsa-miR-4477a	PAR-CLIP	22100165
MIRT447614	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447627	hsa-miR-1265	PAR-CLIP	22100165
MIRT447626	hsa-miR-511-3p	PAR-CLIP	22100165
MIRT447625	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT447624	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT447622	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447623	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT447621	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT447620	hsa-miR-591	PAR-CLIP	22100165
MIRT447619	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT447618	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT447617	hsa-miR-1266-3p	PAR-CLIP	22100165
MIRT447616	hsa-miR-4635	PAR-CLIP	22100165
MIRT447615	hsa-miR-4477a	PAR-CLIP	22100165
MIRT447614	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT440856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT659260	hsa-miR-15a-5p	Luciferase reporter assayMicroarrayqRT-PCR	31658856
MIRT659258	hsa-miR-16-5p	Microarray	33530159
MIRT659260	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT659259	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT659258	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT659257	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT659256	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT659255	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT659253	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT659254	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT659252	hsa-miR-646	HITS-CLIP	23824327
MIRT659250	hsa-miR-4705	HITS-CLIP	23824327
MIRT659251	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT659249	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659248	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT659247	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT659246	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT538276	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT538275	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT538274	hsa-miR-3666	PAR-CLIP	21572407
MIRT538273	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT538272	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT538271	hsa-miR-4295	PAR-CLIP	21572407
MIRT538270	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT538269	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT538268	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT538267	hsa-miR-302e	PAR-CLIP	21572407
MIRT538266	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT538265	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT538264	hsa-miR-520b	PAR-CLIP	21572407
MIRT538263	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT538262	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT538261	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT538260	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT538259	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT538258	hsa-miR-520e	PAR-CLIP	21572407
MIRT538257	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT538256	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT538255	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT538254	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT538253	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT538252	hsa-miR-4650-3p	PAR-CLIP	21572407
MIRT538251	hsa-miR-3529-5p	PAR-CLIP	21572407
MIRT538250	hsa-miR-379-5p	PAR-CLIP	21572407
MIRT538249	hsa-miR-4451	PAR-CLIP	21572407
MIRT538248	hsa-miR-4536-5p	PAR-CLIP	21572407
MIRT538276	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT538275	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT538274	hsa-miR-3666	PAR-CLIP	22012620
MIRT538273	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT538272	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT538271	hsa-miR-4295	PAR-CLIP	22012620
MIRT538270	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT538269	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538268	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538267	hsa-miR-302e	PAR-CLIP	22012620
MIRT538266	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538265	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538264	hsa-miR-520b	PAR-CLIP	22012620
MIRT538263	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538262	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538260	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538259	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538258	hsa-miR-520e	PAR-CLIP	22012620
MIRT538257	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT538256	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT538255	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT538254	hsa-miR-3120-3p	PAR-CLIP	22012620
MIRT538253	hsa-miR-5197-3p	PAR-CLIP	22012620
MIRT538252	hsa-miR-4650-3p	PAR-CLIP	22012620
MIRT538251	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT538250	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT538249	hsa-miR-4451	PAR-CLIP	22012620
MIRT538248	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT447627	hsa-miR-1265	PAR-CLIP	22100165
MIRT447626	hsa-miR-511-3p	PAR-CLIP	22100165
MIRT447625	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT447624	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT447622	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447623	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT447621	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT447620	hsa-miR-591	PAR-CLIP	22100165
MIRT447619	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT447618	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT447617	hsa-miR-1266-3p	PAR-CLIP	22100165
MIRT447616	hsa-miR-4635	PAR-CLIP	22100165
MIRT447615	hsa-miR-4477a	PAR-CLIP	22100165
MIRT447614	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT447627	hsa-miR-1265	PAR-CLIP	22100165
MIRT447626	hsa-miR-511-3p	PAR-CLIP	22100165
MIRT447625	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT447624	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT447622	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447623	hsa-miR-3177-5p	PAR-CLIP	22100165
MIRT447621	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT447620	hsa-miR-591	PAR-CLIP	22100165
MIRT447619	hsa-miR-3613-5p	PAR-CLIP	22100165
MIRT447618	hsa-miR-4668-3p	PAR-CLIP	22100165
MIRT447617	hsa-miR-1266-3p	PAR-CLIP	22100165
MIRT447616	hsa-miR-4635	PAR-CLIP	22100165
MIRT447615	hsa-miR-4477a	PAR-CLIP	22100165
MIRT447614	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT916453	hsa-let-7a	CLIP-seq
MIRT916454	hsa-let-7b	CLIP-seq
MIRT916455	hsa-let-7c	CLIP-seq
MIRT916456	hsa-let-7d	CLIP-seq
MIRT916457	hsa-let-7e	CLIP-seq
MIRT916458	hsa-let-7f	CLIP-seq
MIRT916459	hsa-let-7g	CLIP-seq
MIRT916460	hsa-let-7i	CLIP-seq
MIRT916461	hsa-miR-101	CLIP-seq
MIRT916462	hsa-miR-1246	CLIP-seq
MIRT916463	hsa-miR-1251	CLIP-seq
MIRT916464	hsa-miR-127-5p	CLIP-seq
MIRT916465	hsa-miR-1278	CLIP-seq
MIRT916466	hsa-miR-1279	CLIP-seq
MIRT916467	hsa-miR-1294	CLIP-seq
MIRT916468	hsa-miR-1299	CLIP-seq
MIRT916469	hsa-miR-137	CLIP-seq
MIRT916470	hsa-miR-139-5p	CLIP-seq
MIRT916471	hsa-miR-140-5p	CLIP-seq
MIRT916472	hsa-miR-141	CLIP-seq
MIRT916473	hsa-miR-144	CLIP-seq
MIRT916474	hsa-miR-15a	CLIP-seq
MIRT916475	hsa-miR-15b	CLIP-seq
MIRT916476	hsa-miR-16	CLIP-seq
MIRT916477	hsa-miR-181a	CLIP-seq
MIRT916478	hsa-miR-181b	CLIP-seq
MIRT916479	hsa-miR-181c	CLIP-seq
MIRT916480	hsa-miR-181d	CLIP-seq
MIRT916481	hsa-miR-186	CLIP-seq
MIRT916482	hsa-miR-1911	CLIP-seq
MIRT916483	hsa-miR-195	CLIP-seq
MIRT916484	hsa-miR-200a	CLIP-seq
MIRT916485	hsa-miR-202	CLIP-seq
MIRT916486	hsa-miR-2113	CLIP-seq
MIRT916487	hsa-miR-2467-5p	CLIP-seq
MIRT916488	hsa-miR-25	CLIP-seq
MIRT916489	hsa-miR-3123	CLIP-seq
MIRT916490	hsa-miR-3133	CLIP-seq
MIRT916491	hsa-miR-3143	CLIP-seq
MIRT916492	hsa-miR-3159	CLIP-seq
MIRT916493	hsa-miR-3161	CLIP-seq
MIRT916494	hsa-miR-3174	CLIP-seq
MIRT916495	hsa-miR-3180-5p	CLIP-seq
MIRT916496	hsa-miR-3188	CLIP-seq
MIRT916497	hsa-miR-3189-5p	CLIP-seq
MIRT916498	hsa-miR-32	CLIP-seq
MIRT916499	hsa-miR-33a	CLIP-seq
MIRT916500	hsa-miR-33b	CLIP-seq
MIRT916501	hsa-miR-340	CLIP-seq
MIRT916502	hsa-miR-3545-5p	CLIP-seq
MIRT916503	hsa-miR-3613-3p	CLIP-seq
MIRT916504	hsa-miR-363	CLIP-seq
MIRT916505	hsa-miR-3646	CLIP-seq
MIRT916506	hsa-miR-3647-3p	CLIP-seq
MIRT916507	hsa-miR-3664-5p	CLIP-seq
MIRT916508	hsa-miR-367	CLIP-seq
MIRT916509	hsa-miR-3675-3p	CLIP-seq
MIRT916510	hsa-miR-3690	CLIP-seq
MIRT916511	hsa-miR-3714	CLIP-seq
MIRT916512	hsa-miR-3919	CLIP-seq
MIRT916513	hsa-miR-3935	CLIP-seq
MIRT916514	hsa-miR-3973	CLIP-seq
MIRT916515	hsa-miR-3974	CLIP-seq
MIRT916516	hsa-miR-3975	CLIP-seq
MIRT916517	hsa-miR-424	CLIP-seq
MIRT916518	hsa-miR-4254	CLIP-seq
MIRT916519	hsa-miR-4262	CLIP-seq
MIRT916520	hsa-miR-4282	CLIP-seq
MIRT916521	hsa-miR-4293	CLIP-seq
MIRT916522	hsa-miR-4316	CLIP-seq
MIRT916523	hsa-miR-4452	CLIP-seq
MIRT916524	hsa-miR-4458	CLIP-seq
MIRT916525	hsa-miR-4460	CLIP-seq
MIRT916526	hsa-miR-4477b	CLIP-seq
MIRT916527	hsa-miR-4493	CLIP-seq
MIRT916528	hsa-miR-4500	CLIP-seq
MIRT916529	hsa-miR-451b	CLIP-seq
MIRT916530	hsa-miR-4524	CLIP-seq
MIRT916531	hsa-miR-4684-5p	CLIP-seq
MIRT916532	hsa-miR-4695-3p	CLIP-seq
MIRT916533	hsa-miR-4698	CLIP-seq
MIRT916534	hsa-miR-4699-5p	CLIP-seq
MIRT916535	hsa-miR-4709-3p	CLIP-seq
MIRT916536	hsa-miR-4714-5p	CLIP-seq
MIRT916537	hsa-miR-4758-3p	CLIP-seq
MIRT916538	hsa-miR-4760-5p	CLIP-seq
MIRT916539	hsa-miR-4761-5p	CLIP-seq
MIRT916540	hsa-miR-4781-3p	CLIP-seq
MIRT916541	hsa-miR-485-3p	CLIP-seq
MIRT916542	hsa-miR-485-5p	CLIP-seq
MIRT916543	hsa-miR-494	CLIP-seq
MIRT916544	hsa-miR-497	CLIP-seq
MIRT916545	hsa-miR-503	CLIP-seq
MIRT916546	hsa-miR-515-5p	CLIP-seq
MIRT916547	hsa-miR-520a-5p	CLIP-seq
MIRT916548	hsa-miR-525-5p	CLIP-seq
MIRT916549	hsa-miR-543	CLIP-seq
MIRT916550	hsa-miR-545	CLIP-seq
MIRT916551	hsa-miR-548ag	CLIP-seq
MIRT916552	hsa-miR-548ai	CLIP-seq
MIRT916553	hsa-miR-548c-3p	CLIP-seq
MIRT916554	hsa-miR-548l	CLIP-seq
MIRT916555	hsa-miR-548p	CLIP-seq
MIRT916556	hsa-miR-570	CLIP-seq
MIRT916557	hsa-miR-577	CLIP-seq
MIRT916558	hsa-miR-579	CLIP-seq
MIRT916559	hsa-miR-671-5p	CLIP-seq
MIRT916560	hsa-miR-758	CLIP-seq
MIRT916561	hsa-miR-802	CLIP-seq
MIRT916562	hsa-miR-875-3p	CLIP-seq
MIRT916563	hsa-miR-885-5p	CLIP-seq
MIRT916564	hsa-miR-92a	CLIP-seq
MIRT916565	hsa-miR-92b	CLIP-seq
MIRT916566	hsa-miR-98	CLIP-seq
MIRT916461	hsa-miR-101	CLIP-seq
MIRT1971835	hsa-miR-124	CLIP-seq
MIRT916470	hsa-miR-139-5p	CLIP-seq
MIRT916473	hsa-miR-144	CLIP-seq
MIRT916474	hsa-miR-15a	CLIP-seq
MIRT916475	hsa-miR-15b	CLIP-seq
MIRT916476	hsa-miR-16	CLIP-seq
MIRT916477	hsa-miR-181a	CLIP-seq
MIRT916478	hsa-miR-181b	CLIP-seq
MIRT916479	hsa-miR-181c	CLIP-seq
MIRT916480	hsa-miR-181d	CLIP-seq
MIRT916483	hsa-miR-195	CLIP-seq
MIRT1971836	hsa-miR-2054	CLIP-seq
MIRT1971837	hsa-miR-23a	CLIP-seq
MIRT1971838	hsa-miR-23b	CLIP-seq
MIRT1971839	hsa-miR-23c	CLIP-seq
MIRT916488	hsa-miR-25	CLIP-seq
MIRT1971840	hsa-miR-3074-5p	CLIP-seq
MIRT1971841	hsa-miR-3140-3p	CLIP-seq
MIRT916491	hsa-miR-3143	CLIP-seq
MIRT916495	hsa-miR-3180-5p	CLIP-seq
MIRT1971842	hsa-miR-3184	CLIP-seq
MIRT916498	hsa-miR-32	CLIP-seq
MIRT1971843	hsa-miR-3607-3p	CLIP-seq
MIRT916504	hsa-miR-363	CLIP-seq
MIRT916508	hsa-miR-367	CLIP-seq
MIRT916509	hsa-miR-3675-3p	CLIP-seq
MIRT1971844	hsa-miR-371-5p	CLIP-seq
MIRT1971845	hsa-miR-371b-5p	CLIP-seq
MIRT1971846	hsa-miR-3928	CLIP-seq
MIRT1971847	hsa-miR-3942-3p	CLIP-seq
MIRT1971848	hsa-miR-410	CLIP-seq
MIRT1971849	hsa-miR-423-5p	CLIP-seq
MIRT916517	hsa-miR-424	CLIP-seq
MIRT1971850	hsa-miR-4257	CLIP-seq
MIRT916519	hsa-miR-4262	CLIP-seq
MIRT1971851	hsa-miR-4270	CLIP-seq
MIRT1971852	hsa-miR-4441	CLIP-seq
MIRT1971853	hsa-miR-4443	CLIP-seq
MIRT1971854	hsa-miR-4446-5p	CLIP-seq
MIRT1971855	hsa-miR-4496	CLIP-seq
MIRT1971856	hsa-miR-4522	CLIP-seq
MIRT916530	hsa-miR-4524	CLIP-seq
MIRT1971857	hsa-miR-4656	CLIP-seq
MIRT1971858	hsa-miR-4680-3p	CLIP-seq
MIRT916531	hsa-miR-4684-5p	CLIP-seq
MIRT916532	hsa-miR-4695-3p	CLIP-seq
MIRT1971859	hsa-miR-4740-3p	CLIP-seq
MIRT916541	hsa-miR-485-3p	CLIP-seq
MIRT916544	hsa-miR-497	CLIP-seq
MIRT916545	hsa-miR-503	CLIP-seq
MIRT1971860	hsa-miR-506	CLIP-seq
MIRT1971861	hsa-miR-513a-3p	CLIP-seq
MIRT1971862	hsa-miR-514	CLIP-seq
MIRT1971863	hsa-miR-514b-3p	CLIP-seq
MIRT916547	hsa-miR-520a-5p	CLIP-seq
MIRT916548	hsa-miR-525-5p	CLIP-seq
MIRT916549	hsa-miR-543	CLIP-seq
MIRT1971864	hsa-miR-548an	CLIP-seq
MIRT916556	hsa-miR-570	CLIP-seq
MIRT1971865	hsa-miR-576-5p	CLIP-seq
MIRT916558	hsa-miR-579	CLIP-seq
MIRT1971866	hsa-miR-765	CLIP-seq
MIRT1971867	hsa-miR-9	CLIP-seq
MIRT916564	hsa-miR-92a	CLIP-seq
MIRT916565	hsa-miR-92b	CLIP-seq
MIRT916461	hsa-miR-101	CLIP-seq
MIRT2207496	hsa-miR-1200	CLIP-seq
MIRT2207497	hsa-miR-1284	CLIP-seq
MIRT2207498	hsa-miR-1343	CLIP-seq
MIRT916470	hsa-miR-139-5p	CLIP-seq
MIRT916473	hsa-miR-144	CLIP-seq
MIRT916474	hsa-miR-15a	CLIP-seq
MIRT916475	hsa-miR-15b	CLIP-seq
MIRT916476	hsa-miR-16	CLIP-seq
MIRT916482	hsa-miR-1911	CLIP-seq
MIRT916483	hsa-miR-195	CLIP-seq
MIRT1971837	hsa-miR-23a	CLIP-seq
MIRT1971838	hsa-miR-23b	CLIP-seq
MIRT1971839	hsa-miR-23c	CLIP-seq
MIRT2207499	hsa-miR-300	CLIP-seq
MIRT916490	hsa-miR-3133	CLIP-seq
MIRT916491	hsa-miR-3143	CLIP-seq
MIRT2207500	hsa-miR-3160-3p	CLIP-seq
MIRT916494	hsa-miR-3174	CLIP-seq
MIRT916495	hsa-miR-3180-5p	CLIP-seq
MIRT2207501	hsa-miR-3618	CLIP-seq
MIRT2207502	hsa-miR-381	CLIP-seq
MIRT916517	hsa-miR-424	CLIP-seq
MIRT2207503	hsa-miR-4251	CLIP-seq
MIRT2207504	hsa-miR-4274	CLIP-seq
MIRT2207505	hsa-miR-4324	CLIP-seq
MIRT2207506	hsa-miR-4487	CLIP-seq
MIRT2207507	hsa-miR-4511	CLIP-seq
MIRT2207508	hsa-miR-4519	CLIP-seq
MIRT916530	hsa-miR-4524	CLIP-seq
MIRT2207509	hsa-miR-455-3p	CLIP-seq
MIRT2207510	hsa-miR-4666-3p	CLIP-seq
MIRT916532	hsa-miR-4695-3p	CLIP-seq
MIRT916544	hsa-miR-497	CLIP-seq
MIRT916545	hsa-miR-503	CLIP-seq
MIRT1971861	hsa-miR-513a-3p	CLIP-seq
MIRT916547	hsa-miR-520a-5p	CLIP-seq
MIRT916548	hsa-miR-525-5p	CLIP-seq
MIRT916549	hsa-miR-543	CLIP-seq
MIRT916550	hsa-miR-545	CLIP-seq
MIRT916555	hsa-miR-548p	CLIP-seq
MIRT2207511	hsa-miR-558	CLIP-seq
MIRT1971865	hsa-miR-576-5p	CLIP-seq
MIRT2207512	hsa-miR-590-3p	CLIP-seq
MIRT2207513	hsa-miR-664	CLIP-seq
MIRT2207514	hsa-miR-934	CLIP-seq
MIRT2510722	hsa-miR-106a	CLIP-seq
MIRT2510723	hsa-miR-106b	CLIP-seq
MIRT2510724	hsa-miR-1283	CLIP-seq
MIRT2510725	hsa-miR-17	CLIP-seq
MIRT916481	hsa-miR-186	CLIP-seq
MIRT2510726	hsa-miR-20a	CLIP-seq
MIRT2510727	hsa-miR-20b	CLIP-seq
MIRT2510728	hsa-miR-302a	CLIP-seq
MIRT2510729	hsa-miR-302b	CLIP-seq
MIRT2510730	hsa-miR-302c	CLIP-seq
MIRT2510731	hsa-miR-302d	CLIP-seq
MIRT916490	hsa-miR-3133	CLIP-seq
MIRT2510732	hsa-miR-372	CLIP-seq
MIRT2510733	hsa-miR-373	CLIP-seq
MIRT2510734	hsa-miR-3941	CLIP-seq
MIRT2510735	hsa-miR-4639-5p	CLIP-seq
MIRT2510736	hsa-miR-466	CLIP-seq
MIRT2510737	hsa-miR-4661-5p	CLIP-seq
MIRT2510738	hsa-miR-4672	CLIP-seq
MIRT2510739	hsa-miR-4731-3p	CLIP-seq
MIRT2510740	hsa-miR-4744	CLIP-seq
MIRT2510741	hsa-miR-4801	CLIP-seq
MIRT2510742	hsa-miR-519d	CLIP-seq
MIRT2510743	hsa-miR-520g	CLIP-seq
MIRT2510744	hsa-miR-520h	CLIP-seq
MIRT2510745	hsa-miR-93	CLIP-seq
MIRT916481	hsa-miR-186	CLIP-seq
MIRT916490	hsa-miR-3133	CLIP-seq
MIRT2510737	hsa-miR-4661-5p	CLIP-seq
MIRT2510740	hsa-miR-4744	CLIP-seq

128

Show/Hide all (128)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS	8681378
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000209	Process	Protein polyubiquitination	IDA	14528312, 19261606
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000922	Component	Spindle pole	IDA	23213400
GO:0000922	Component	Spindle pole	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001831	Process	Trophectodermal cellular morphogenesis	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15983046, 19261606, 19782033, 20389280
GO:0005112	Function	Notch binding	IPI	25401743
GO:0005515	Function	Protein binding	IPI	12609982, 14528312, 15107402, 17543862, 18397884, 18573101, 18775313, 18826954, 18850735, 19261606, 19427028, 19615732, 19617556, 20389280, 20554658, 20562859, 21145461, 21577200, 21778237, 21828050, 21988832, 22466964, 22542517, 22632832, 22748208, 22939624, 23213400, 23563313, 236
GO:0005634	Component	Nucleus	IDA	23213400
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	27708159
GO:0005737	Component	Cytoplasm	IDA	28395323
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	23213400
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005827	Component	Polar microtubule	IDA	19995937
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	19617556
GO:0005929	Component	Cilium	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006368	Process	Transcription elongation by RNA polymerase II	IDA	9852112
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	17636018, 25401743, 36394357
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	27561354
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006513	Process	Protein monoubiquitination	IDA	22358839
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	35989311
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	22358839
GO:0006915	Process	Apoptotic process	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	36075446
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	17543862, 19995937
GO:0007165	Process	Signal transduction	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	ISS
GO:0007369	Process	Gastrulation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	9733711
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016477	Process	Cell migration	IMP	19782033
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	17543862, 19782033, 19995937, 20389280, 23213400
GO:0016567	Process	Protein ubiquitination	IEA
GO:0017145	Process	Stem cell division	IEA
GO:0017145	Process	Stem cell division	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030332	Function	Cyclin binding	IEA
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	IDA	10500095
GO:0031208	Function	POZ domain binding	IDA	14528312, 19261606
GO:0031398	Process	Positive regulation of protein ubiquitination	IGI	24844779
GO:0031461	Component	Cullin-RING ubiquitin ligase complex	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	14528312, 15983046, 17543862, 19158078, 19261606, 19782033, 19995937, 20389280, 22358839, 22578813, 23453970, 23455478, 23576762, 24768539, 25684205, 26399832, 35687106, 35862218, 38225631, 39504960, 39667934
GO:0031514	Component	Motile cilium	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	14528312
GO:0031648	Process	Protein destabilization	IGI	24844779
GO:0031669	Process	Cellular response to nutrient levels	IDA	31601708
GO:0032467	Process	Positive regulation of cytokinesis	IMP	19261606
GO:0032480	Process	Negative regulation of type I interferon production	IDA	36394357
GO:0032480	Process	Negative regulation of type I interferon production	IDA	36394357
GO:0032481	Process	Positive regulation of type I interferon production	IDA	17404045
GO:0032869	Process	Cellular response to insulin stimulus	IDA	27708159
GO:0034198	Process	Cellular response to amino acid starvation	IDA	35338845
GO:0034599	Process	Cellular response to oxidative stress	IDA	15601839, 36075446
GO:0034599	Process	Cellular response to oxidative stress	IDA	15601839
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	19782033
GO:0036126	Component	Sperm flagellum	IDA	28395323
GO:0040016	Process	Embryonic cleavage	IEA
GO:0040016	Process	Embryonic cleavage	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043149	Process	Stress fiber assembly	IMP	19782033
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15601839, 23453970, 29769719, 33184234, 35093948
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15601839, 19261606, 19782033, 20389280, 23453970, 29769719, 35687106, 38225631, 39504960, 39667934
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	25684205
GO:0044346	Process	Fibroblast apoptotic process	IEA
GO:0045842	Process	Positive regulation of mitotic metaphase/anaphase transition	IMP	17543862
GO:0048208	Process	COPII vesicle coating	IMP	22358839
GO:0051301	Process	Cell division	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	14528312
GO:0060337	Process	Type I interferon-mediated signaling pathway	IMP	23391734
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	14528312
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070294	Process	Renal sodium ion absorption	IDA	35093948
GO:0070294	Process	Renal sodium ion absorption	ISS	14608358, 17975670
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	27708159
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	25684205, 27708159
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	29769719
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	29769719
GO:0071630	Process	Nuclear protein quality control by the ubiquitin-proteasome system	IDA	27561354
GO:0072576	Process	Liver morphogenesis	IEA
GO:0072686	Component	Mitotic spindle	IDA	23213400
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	TAS	8681378
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140252	Process	Regulation protein catabolic process at postsynapse	IEA
GO:0160072	Function	Ubiquitin ligase complex scaffold activity	IDA	15601839, 23453970, 27708159, 29769719, 36394357
GO:0160240	Process	RNA polymerase II transcription initiation surveillance	IDA	39504960, 39667934
GO:1900076	Process	Regulation of cellular response to insulin stimulus	IC	27708159
GO:1900076	Process	Regulation of cellular response to insulin stimulus	IDA	27708159
GO:1900076	Process	Regulation of cellular response to insulin stimulus	IDA	27708159
GO:1901992	Process	Positive regulation of mitotic cell cycle phase transition	IMP	23213400
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	35338845
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29769719, 31601708
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29769719

MIM	HGNC	e!Ensembl
603136	2553	ENSG00000036257

Q13618

Protein name

Cullin-3 (CUL-3)

Protein function

Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to m

PDB

2MYL , 2MYM , 4AP2 , 4APF , 4EOZ , 4HXI , 5NLB , 6I2M , 8GQ6 , 8H33 , 8H34 , 8H35 , 8H36 , 8H37 , 8H38 , 8H3A , 8H3F , 8H3Q , 8H3R , 8I79 , 8K8T , 8K9I , 8KHP , 8U80 , 8U81 , 8U82 , 8U83 , 8U84

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00888	Cullin	34 → 665	Cullin family	Family
PF10557	Cullin_Nedd8	698 → 760	Cullin protein neddylation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, spermatozoa, and testis (at protein level). Widely expressed. {ECO:0000269|PubMed:28395323}.

Sequence

MSNLSKGTGSRKDTKMRIRAFPMTMDEKYVNSIWDLLKNAIQEIQRKNNSGLSFEELYRN
AYTMVLHKHGEKLYTGLREVVTEHLINKVREDVLNSLNNNFLQTLNQAWNDHQTAMVMIR
DILMYMDRVYVQQNNVENVYNLGLIIFRDQVVRYGCIRDHLRQTLLDMIARERKGEVVDR
GAIRNACQMLMILGLEGRSVYEEDFEAPFLEMSAEFFQMESQKFLAENSASVYIKKVEAR
INEEIERVMHCLDKSTEEPIVKVVERELISKHMKTIVEMENSGLVHMLKNGKTEDLGCMY
KLFSRVPNGLKTMCECMSSYLREQGKALVSEEGEGKNPVDYIQGLLDLKSRFDRFLLESF
NNDRLFKQTIAGDFEYFLNLNSRSPEYLSLFIDDKLKKGVKGLTEQEVETILDKAMVLFR
FMQEKDVFERYYKQHLARRLLTNKSVSDDSEKNMISKLKTECGCQFTSKLEGMFRDMSIS
NTTMDEFRQHLQATGVSLGGVDLTVRVLTTGYWPTQSATPKCNIPPAPRHAFEIFRRFYL
AKHSGRQLTLQHHMGSADLNATFYGPVKKEDGSEVGVGGAQVTGSNTRKHILQVSTFQMT
ILMLFNNREKYTFEEIQQETDIPERELVRALQSLACGKPTQRVLTKEPKSKEIENGHIFT
VNDQFTSKLHRVKIQTVAAKQGESDPERKETRQKVDDDRKHEIEAAIVRIMKSRKKMQHN
VLVAEVTQQLKARFLPSPVVIKKRIEGLIEREYLARTPEDRKVYTYVA

Sequence length

768

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Hedgehog signaling pathway		Degradation of DVL Hedgehog 'on' state Regulation of RAS by GAPs Neddylation Antigen processing: Ubiquitination & Proteasome degradation

356

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Likely pathogenic; Pathogenic	rs1692335353	RCV002463785
Autosomal dominant pseudohypoaldosteronism type 1	Likely pathogenic; Pathogenic	rs1553535841	RCV000987041
Complex neurodevelopmental disorder	Pathogenic	rs2106220962	RCV002272969
CUL3-related disorder	Pathogenic; Likely pathogenic	rs2106223668, rs199469660, rs2470001056, rs1692588792, rs2106196630, rs2106196612	RCV005225430 RCV004529127 RCV003402414 RCV003391442 RCV003420947 RCV003982796
Intellectual disability	Likely pathogenic	rs1692824104	RCV001252214
Neurodevelopmental abnormality	Likely pathogenic	rs1692821396	RCV001264679
Neurodevelopmental disorder	Likely pathogenic	rs2106221030	RCV001780015
NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES	Pathogenic	rs1692153577	RCV001352927
NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES	Pathogenic	rs981700726	RCV001352923
Neurodevelopmental disorder with or without autism or seizures	Pathogenic; Likely pathogenic	rs2469982052, rs2469984770, rs2106304000, rs2106220457, rs2106223664, rs2106223782, rs2469957330, rs2469971419, rs2470001180, rs2469981132, rs2469974019, rs2106264503, rs2469981918, rs1417750087, rs1553523940 View all (3 more)	RCV002288285 RCV002289085 RCV002468694 RCV002470226 RCV006255219 RCV004784125 RCV003147920 RCV003154829 RCV003222585 RCV003225623 RCV003314516 RCV003990776 RCV004549023 RCV004595398 RCV003147517 RCV004796257 RCV004597556 RCV006249512
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES	Pathogenic; Likely pathogenic	rs1692487571, rs1553535841	RCV001352926 RCV001352922
Neurodevelopmental disorder without autism with seizures	Pathogenic	rs1343840421, rs1694759979	RCV001352924 RCV001352925
NK-cell enteropathy	Likely pathogenic	rs1574631977	RCV000791308
Pseudohypoaldosteronism type 2A	Pathogenic; Likely pathogenic	rs199469651, rs199469654, rs199469650, rs199469649, rs199469653, rs199469652, rs199469655, rs199469658, rs199469657, rs199469659, rs199469660, rs886038765, rs199469656	RCV000128486 RCV000128487 RCV000128488 RCV000128489 RCV000128490 RCV000128491 RCV000128492 RCV000128494 RCV000128495 RCV000128496 RCV000128497 RCV000256456 RCV000128493
Pseudohypoaldosteronism type 2E	Pathogenic; Likely pathogenic	rs199469651, rs199469654, rs199469650, rs199469649, rs199469653, rs199469652, rs2469957330, rs2469974393, rs199469656, rs1553523940, rs201496024, rs1692920727	RCV000023254 RCV000023257 RCV000023252 RCV000023253 RCV000023256 RCV000023255 RCV003147919 RCV004594728 RCV000023258 RCV003147516 RCV004796257 RCV001253061

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs767240461, rs2469994698	RCV003127994 RCV003127302
Cholangiocarcinoma	Benign	rs75369440	RCV005924883
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs200164153	RCV005906320
Familial cancer of breast	Likely benign	rs777243450	RCV005932097
Gastric cancer	Benign; Likely benign	rs201374931	RCV005913851
Hepatocellular carcinoma	Benign	rs1027340	RCV005923738
Malignant lymphoma, large B-cell, diffuse	Benign	rs1027340	RCV005923739
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs1553602498	RCV002274077
Ovarian serous cystadenocarcinoma	Benign	rs17479770	RCV005896111

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	31828882
Adenocarcinoma of Lung	Associate	34617407
Alzheimer Disease	Associate	33754896
Anorexia Nervosa	Associate	24514567
Anxiety	Associate	32027827
Asthenozoospermia	Associate	36471356
Autism Spectrum Disorder	Associate	27824329, 37026922
Autistic Disorder	Associate	27716508, 27824329, 37026922
Breast Neoplasms	Associate	23559371, 23875900, 35589867
Breast Neoplasms	Stimulate	26544623
Carcinogenesis	Associate	29306329, 30237511
Carcinoma Hepatocellular	Associate	31280863, 32555680
Carcinoma Non Small Cell Lung	Associate	31455821
Carcinoma Renal Cell	Associate	25564569, 25790038
Carcinoma Squamous Cell	Associate	32434476
Cholangiocarcinoma	Associate	39239747
Colorectal Neoplasms	Associate	27213918
Congenital Abnormalities	Associate	34878901
Cryptorchidism	Associate	18687424
Developmental Disabilities	Associate	37026922
Diabetic Nephropathies	Associate	37526061
Drug Related Side Effects and Adverse Reactions	Associate	23939375
Epilepsy	Associate	24959624, 37026922
Esophageal Neoplasms	Associate	29127303, 30961474
Essential Hypertension	Associate	28804198
Genetic Diseases Inborn	Associate	24641320
Granulosa Cell Tumor	Associate	36063543
Growth Disorders	Associate	34878901, 37026922
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33977871
Hirschsprung Disease	Associate	24334875
Hypertension	Associate	23387299, 23573258, 24266877, 26100637, 27716508, 28804198, 35563538
Inflammation	Associate	40723924
Lung Neoplasms	Associate	21795997
Lymphatic Metastasis	Associate	23308193
Melanoma	Associate	27708104
Mental Disorders	Associate	25695269, 32027827
Mitochondrial Diseases	Associate	37526061
Multiple Myeloma	Associate	33530159
Nasopharyngeal Carcinoma	Associate	28429677
Neoplasm Metastasis	Associate	23308193, 26544623
Neoplasm Metastasis	Stimulate	28429677
Neoplasms	Associate	18757741, 23875900, 24451148, 25056374, 26544623, 27213918, 29306329, 32268084, 33735170, 33977871, 35194034
Ovarian Neoplasms	Associate	25114896
Polycystic Ovary Syndrome	Associate	36063543
Prostatic Neoplasms	Associate	29610475, 32364525, 35194188
Pseudohypoaldosteronism	Associate	23902721, 35093948, 35563538
Rectal Neoplasms	Associate	35409691
Schizophrenia	Associate	27716508
Seizures	Associate	37026922
Squamous Cell Carcinoma of Head and Neck	Associate	29306329
Stomach Neoplasms	Associate	38246227
Stroke	Associate	26679092, 32626985
Thyroid Cancer Papillary	Associate	24138990
Thyroid Neoplasms	Associate	24138990
Triple Negative Breast Neoplasms	Associate	25056374
Urinary Bladder Neoplasms	Associate	23308193
Uterine Cervical Neoplasms	Associate	35194034
Vitiligo	Associate	35777015
Vitiligo	Inhibit	40723924

CUL3 (cullin 3)