CCDC50 (coiled-coil domain containing 50)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 152137
• Gene name: Coiled-coil domain containing 50
• Gene symbol: CCDC50
• Synonyms (NCBI Gene): C3orf6, DFNA44, YMER
• Chromosome: 3
• Chromosome location: 3q28
• Summary: This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expresse

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138153104	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs143628723	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant

miRNA Show/Hide all (470)

miRTarBase ID	miRNA	Experiments	Reference
MIRT499020	hsa-miR-4802-3p	PAR-CLIP	24398324
MIRT499019	hsa-miR-942-3p	PAR-CLIP	24398324
MIRT499018	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499016	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499017	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499015	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499014	hsa-miR-4524a-3p	PAR-CLIP	24398324
MIRT499013	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499012	hsa-miR-4510	PAR-CLIP	24398324
MIRT499011	hsa-miR-6127	PAR-CLIP	24398324
MIRT499009	hsa-miR-6129	PAR-CLIP	24398324
MIRT499010	hsa-miR-6130	PAR-CLIP	24398324
MIRT499008	hsa-miR-6133	PAR-CLIP	24398324
MIRT499007	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT499006	hsa-miR-3175	PAR-CLIP	24398324
MIRT499005	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT499003	hsa-miR-5698	PAR-CLIP	24398324
MIRT499004	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT499002	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT499001	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT499000	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT498999	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT498998	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT498996	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT499020	hsa-miR-4802-3p	PAR-CLIP	24398324
MIRT499019	hsa-miR-942-3p	PAR-CLIP	24398324
MIRT499018	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499016	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499017	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499015	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499014	hsa-miR-4524a-3p	PAR-CLIP	24398324
MIRT499013	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499012	hsa-miR-4510	PAR-CLIP	24398324
MIRT499011	hsa-miR-6127	PAR-CLIP	24398324
MIRT499009	hsa-miR-6129	PAR-CLIP	24398324
MIRT499010	hsa-miR-6130	PAR-CLIP	24398324
MIRT499008	hsa-miR-6133	PAR-CLIP	24398324
MIRT499007	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT499006	hsa-miR-3175	PAR-CLIP	24398324
MIRT499005	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT499003	hsa-miR-5698	PAR-CLIP	24398324
MIRT499004	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT499002	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT499001	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT499000	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT498999	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT498998	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT498996	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869144	hsa-miR-136	CLIP-seq
MIRT869145	hsa-miR-146a	CLIP-seq
MIRT869146	hsa-miR-146b-5p	CLIP-seq
MIRT869147	hsa-miR-15a	CLIP-seq
MIRT869148	hsa-miR-15b	CLIP-seq
MIRT869149	hsa-miR-16	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869152	hsa-miR-195	CLIP-seq
MIRT869153	hsa-miR-214	CLIP-seq
MIRT869154	hsa-miR-217	CLIP-seq
MIRT869155	hsa-miR-25	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869159	hsa-miR-3138	CLIP-seq
MIRT869160	hsa-miR-3163	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869162	hsa-miR-3177-5p	CLIP-seq
MIRT869163	hsa-miR-3179	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869165	hsa-miR-32	CLIP-seq
MIRT869166	hsa-miR-323b-5p	CLIP-seq
MIRT869167	hsa-miR-324-5p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869169	hsa-miR-3619-5p	CLIP-seq
MIRT869170	hsa-miR-363	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869172	hsa-miR-367	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869176	hsa-miR-3919	CLIP-seq
MIRT869177	hsa-miR-3925-5p	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869180	hsa-miR-3973	CLIP-seq
MIRT869181	hsa-miR-424	CLIP-seq
MIRT869182	hsa-miR-4252	CLIP-seq
MIRT869183	hsa-miR-4257	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869185	hsa-miR-4468	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT869189	hsa-miR-4520a-3p	CLIP-seq
MIRT869190	hsa-miR-4520a-5p	CLIP-seq
MIRT869191	hsa-miR-4520b-5p	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869194	hsa-miR-4649-5p	CLIP-seq
MIRT869195	hsa-miR-4684-5p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869198	hsa-miR-4756-3p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869200	hsa-miR-4768-5p	CLIP-seq
MIRT869201	hsa-miR-4778-5p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869205	hsa-miR-497	CLIP-seq
MIRT869206	hsa-miR-503	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869208	hsa-miR-513a-3p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869210	hsa-miR-548a-5p	CLIP-seq
MIRT869211	hsa-miR-548ab	CLIP-seq
MIRT869212	hsa-miR-548ak	CLIP-seq
MIRT869213	hsa-miR-548b-5p	CLIP-seq
MIRT869214	hsa-miR-548c-5p	CLIP-seq
MIRT869215	hsa-miR-548d-5p	CLIP-seq
MIRT869216	hsa-miR-548h	CLIP-seq
MIRT869217	hsa-miR-548i	CLIP-seq
MIRT869218	hsa-miR-548j	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT869220	hsa-miR-548w	CLIP-seq
MIRT869221	hsa-miR-548y	CLIP-seq
MIRT869222	hsa-miR-559	CLIP-seq
MIRT869223	hsa-miR-584	CLIP-seq
MIRT869224	hsa-miR-646	CLIP-seq
MIRT869225	hsa-miR-761	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869227	hsa-miR-767-5p	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869230	hsa-miR-92a	CLIP-seq
MIRT869231	hsa-miR-92b	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869233	hsa-miR-1237	CLIP-seq
MIRT869234	hsa-miR-124	CLIP-seq
MIRT869235	hsa-miR-1248	CLIP-seq
MIRT869236	hsa-miR-1303	CLIP-seq
MIRT869237	hsa-miR-1305	CLIP-seq
MIRT869238	hsa-miR-133a	CLIP-seq
MIRT869239	hsa-miR-133b	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869240	hsa-miR-188-5p	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869154	hsa-miR-217	CLIP-seq
MIRT869155	hsa-miR-25	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869241	hsa-miR-3064-5p	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869242	hsa-miR-3120-3p	CLIP-seq
MIRT869243	hsa-miR-3157-5p	CLIP-seq
MIRT869244	hsa-miR-3160-3p	CLIP-seq
MIRT869160	hsa-miR-3163	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869165	hsa-miR-32	CLIP-seq
MIRT869245	hsa-miR-3200-3p	CLIP-seq
MIRT869246	hsa-miR-335	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869170	hsa-miR-363	CLIP-seq
MIRT869247	hsa-miR-3651	CLIP-seq
MIRT869248	hsa-miR-3652	CLIP-seq
MIRT869172	hsa-miR-367	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869249	hsa-miR-384	CLIP-seq
MIRT869250	hsa-miR-3910	CLIP-seq
MIRT869251	hsa-miR-3922-5p	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869252	hsa-miR-3941	CLIP-seq
MIRT869253	hsa-miR-412	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869255	hsa-miR-4274	CLIP-seq
MIRT869256	hsa-miR-4293	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869257	hsa-miR-4420	CLIP-seq
MIRT869258	hsa-miR-4427	CLIP-seq
MIRT869259	hsa-miR-4430	CLIP-seq
MIRT869260	hsa-miR-4452	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869262	hsa-miR-4502	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869263	hsa-miR-4505	CLIP-seq
MIRT869264	hsa-miR-4519	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT869265	hsa-miR-4638-3p	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869266	hsa-miR-466	CLIP-seq
MIRT869267	hsa-miR-4672	CLIP-seq
MIRT869268	hsa-miR-4680-3p	CLIP-seq
MIRT869269	hsa-miR-4691-3p	CLIP-seq
MIRT869270	hsa-miR-4697-3p	CLIP-seq
MIRT869271	hsa-miR-4698	CLIP-seq
MIRT869272	hsa-miR-4720-3p	CLIP-seq
MIRT869273	hsa-miR-4724-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869274	hsa-miR-4731-3p	CLIP-seq
MIRT869275	hsa-miR-4761-3p	CLIP-seq
MIRT869276	hsa-miR-4762-3p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869277	hsa-miR-4780	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869278	hsa-miR-4801	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869279	hsa-miR-498	CLIP-seq
MIRT869280	hsa-miR-499-3p	CLIP-seq
MIRT869281	hsa-miR-499a-3p	CLIP-seq
MIRT869282	hsa-miR-506	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869283	hsa-miR-548aa	CLIP-seq
MIRT869284	hsa-miR-548g	CLIP-seq
MIRT869285	hsa-miR-596	CLIP-seq
MIRT869286	hsa-miR-623	CLIP-seq
MIRT869287	hsa-miR-647	CLIP-seq
MIRT869288	hsa-miR-653	CLIP-seq
MIRT869289	hsa-miR-665	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869227	hsa-miR-767-5p	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869230	hsa-miR-92a	CLIP-seq
MIRT869231	hsa-miR-92b	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869290	hsa-miR-944	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869147	hsa-miR-15a	CLIP-seq
MIRT869148	hsa-miR-15b	CLIP-seq
MIRT869149	hsa-miR-16	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869152	hsa-miR-195	CLIP-seq
MIRT869153	hsa-miR-214	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT1957886	hsa-miR-3174	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT1957887	hsa-miR-342-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869169	hsa-miR-3619-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT1957888	hsa-miR-377	CLIP-seq
MIRT1957889	hsa-miR-380	CLIP-seq
MIRT1957890	hsa-miR-3908	CLIP-seq
MIRT1957891	hsa-miR-3909	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT1957892	hsa-miR-3942-5p	CLIP-seq
MIRT869181	hsa-miR-424	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT1957893	hsa-miR-4422	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957894	hsa-miR-4495	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT1957896	hsa-miR-4666-5p	CLIP-seq
MIRT1957897	hsa-miR-4703-5p	CLIP-seq
MIRT1957898	hsa-miR-4714-5p	CLIP-seq
MIRT869272	hsa-miR-4720-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT1957900	hsa-miR-4728-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT1957901	hsa-miR-4742-5p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT1957902	hsa-miR-4766-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869205	hsa-miR-497	CLIP-seq
MIRT869206	hsa-miR-503	CLIP-seq
MIRT1957903	hsa-miR-554	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869224	hsa-miR-646	CLIP-seq
MIRT1957905	hsa-miR-664	CLIP-seq
MIRT869225	hsa-miR-761	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT2194898	hsa-miR-1297	CLIP-seq
MIRT2194899	hsa-miR-26a	CLIP-seq
MIRT2194900	hsa-miR-26b	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT2194901	hsa-miR-4465	CLIP-seq
MIRT869271	hsa-miR-4698	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT1957893	hsa-miR-4422	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957894	hsa-miR-4495	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT2194902	hsa-miR-4666-3p	CLIP-seq
MIRT1957896	hsa-miR-4666-5p	CLIP-seq
MIRT2194903	hsa-miR-4690-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869280	hsa-miR-499-3p	CLIP-seq
MIRT869281	hsa-miR-499a-3p	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT1957903	hsa-miR-554	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT2194904	hsa-miR-888	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT2194905	hsa-miR-935	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT2385647	hsa-miR-28-5p	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869241	hsa-miR-3064-5p	CLIP-seq
MIRT2385648	hsa-miR-3139	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869248	hsa-miR-3652	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT1957888	hsa-miR-377	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869259	hsa-miR-4430	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869263	hsa-miR-4505	CLIP-seq
MIRT869265	hsa-miR-4638-3p	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869194	hsa-miR-4649-5p	CLIP-seq
MIRT2194903	hsa-miR-4690-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2385649	hsa-miR-4730	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869287	hsa-miR-647	CLIP-seq
MIRT2385650	hsa-miR-708	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT2465051	hsa-miR-4709-5p	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869234	hsa-miR-124	CLIP-seq
MIRT2498229	hsa-miR-129-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT2498230	hsa-miR-2054	CLIP-seq
MIRT2498231	hsa-miR-2682	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT2498232	hsa-miR-3129-3p	CLIP-seq
MIRT2498233	hsa-miR-3140-3p	CLIP-seq
MIRT2498234	hsa-miR-3145-5p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT2498235	hsa-miR-3613-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869247	hsa-miR-3651	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT2498236	hsa-miR-371b-5p	CLIP-seq
MIRT869250	hsa-miR-3910	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT2498237	hsa-miR-4263	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869255	hsa-miR-4274	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT2498238	hsa-miR-449c	CLIP-seq
MIRT869264	hsa-miR-4519	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2498239	hsa-miR-4735-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869282	hsa-miR-506	CLIP-seq
MIRT2498240	hsa-miR-544	CLIP-seq
MIRT2498241	hsa-miR-576-5p	CLIP-seq
MIRT2498242	hsa-miR-628-5p	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT2194904	hsa-miR-888	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869290	hsa-miR-944	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT2498232	hsa-miR-3129-3p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT2498236	hsa-miR-371b-5p	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT2677503	hsa-miR-4719	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2498239	hsa-miR-4735-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq

Gene ontology (GO) Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18029035, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007605	Process	Sensory perception of sound	IMP	17503326
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23418353
GO:0036064	Component	Ciliary basal body	IDA

Other IDs

• MIM: 611051
• HGNC: 18111
• e!Ensembl: ENSG00000152492

Protein

• UniProt ID: Q8IVM0
• Protein name: Coiled-coil domain-containing protein 50 (Protein Ymer)
• Protein function: Involved in EGFR signaling.
• PDB: 6LAN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15295	CCDC50_N	4 → 128	Coiled-coil domain-containing protein 50 N-terminus	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269|PubMed:14527723}.
• Sequence:

  MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAK
  QLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKE
  LQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIAR
  KLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREKSSLDKRKQDPEWKPK
  TAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHK
  GFHYKH

• Sequence length: 306

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing loss 44	Pathogenic	rs2108677025	RCV002259400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (21)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Orphanet	20301607, 24148127	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC50-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 44	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	28604730	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Benign	ClinVar ClinGen	ClinGen report	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	37965313	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37552104	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	36071244	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 44	Deafness	GENOMICS_ENGLAND_DG	17503326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 44	Deafness	BEFREE	27142990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 44	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31811114	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31811114		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	17503326		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30028541		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	17503326, 27068579, 27911912		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	19324102		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38111587	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KCNQ4 5 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hereditary hearing loss, nonsyndromic genetic hearing loss 9 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), ClinVar (Nonsyndromic hearing loss), GenCC (Nonsyndromic hearing loss), CTD (Deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hereditary hearing loss), ClinGen (nonsyndromic genetic hearing loss) Related via 5 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. MYO3A 5 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hereditary hearing loss, nonsyndromic genetic hearing loss 9 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), ClinVar (Nonsyndromic hearing loss), GenCC (Nonsyndromic hearing loss), CTD (Deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hereditary hearing loss), ClinGen (nonsyndromic genetic hearing loss) Related via 5 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. ESRRB 5 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hereditary hearing loss, nonsyndromic genetic hearing loss 8 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), ClinVar (Nonsyndromic hearing loss), CTD (Deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hereditary hearing loss), ClinGen (nonsyndromic genetic hearing loss) Related via 5 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. OTOA 5 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hereditary hearing loss, nonsyndromic genetic hearing loss 9 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), ClinVar (Nonsyndromic hearing loss), GenCC (Nonsyndromic hearing loss), CTD (Deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hereditary hearing loss), ClinGen (nonsyndromic genetic hearing loss) Related via 5 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet. PJVK 5 shared diseasesIsolated sensorineural deafness, Nonsyndromic hearing loss, Deafness, Hereditary hearing loss, nonsyndromic genetic hearing loss 9 shared evidence sourcesDisgenet (Isolated sensorineural deafness), Disgenet (Nonsyndromic hearing loss), Orphanet (Nonsyndromic hearing loss), ClinVar (Nonsyndromic hearing loss), CTD (Deafness), Disgenet (Deafness), HPO (Deafness), ClinVar (Hereditary hearing loss), ClinGen (nonsyndromic genetic hearing loss) Related via 5 shared diseases including Isolated sensorineural deafness, Nonsyndromic hearing loss — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNQ4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	0	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
MYO3A	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	0	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ESRRB	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	0	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
OTOA	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	0	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
PJVK	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	0	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Orphanet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

Diseases Linked via Similar Genes

Hearing loss Linked via 5 of 5 related genesKCNQ4, MYO3A, ESRRB, OTOA, PJVK Colorectal cancer Linked via 1 of 5 related genesKCNQ4 Inflammatory bowel disease Linked via 1 of 5 related genesKCNQ4 Obesity Linked via 1 of 5 related genesMYO3A Diabetes mellitus type 2 Linked via 1 of 5 related genesMYO3A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hearing loss	5	["KCNQ4","MYO3A","ESRRB","OTOA","PJVK"]
Colorectal cancer	1	["KCNQ4"]
Inflammatory bowel disease	1	["KCNQ4"]
Obesity	1	["MYO3A"]
Diabetes mellitus type 2	1	["MYO3A"]