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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54902
Gene name	Tetratricopeptide repeat domain 19
Gene symbol	TTC19
Synonyms (NCBI Gene)	2010204O13RikMC3DN2
Chromosome	17
Chromosome location	17p12
Summary	This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions includ

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SNP ID	Visualize variation	Clinical significance	Consequence
rs147111211	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs387907094	C>T	Pathogenic	Stop gained, coding sequence variant
rs747166010	T>G	Pathogenic	Coding sequence variant, stop gained
rs794726691	GGCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs794726692	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1187416161	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555530551	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

420

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047845	hsa-miR-30c-5p	CLASH	23622248
MIRT573201	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT573200	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT573200	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT573201	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT573200	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT1460958	hsa-miR-1208	CLIP-seq
MIRT1460959	hsa-miR-1224-3p	CLIP-seq
MIRT1460960	hsa-miR-1224-5p	CLIP-seq
MIRT1460961	hsa-miR-1255a	CLIP-seq
MIRT1460962	hsa-miR-1255b	CLIP-seq
MIRT1460963	hsa-miR-1260	CLIP-seq
MIRT1460964	hsa-miR-1260b	CLIP-seq
MIRT1460965	hsa-miR-1280	CLIP-seq
MIRT1460966	hsa-miR-1287	CLIP-seq
MIRT1460967	hsa-miR-138	CLIP-seq
MIRT1460968	hsa-miR-1910	CLIP-seq
MIRT1460969	hsa-miR-214	CLIP-seq
MIRT1460970	hsa-miR-224	CLIP-seq
MIRT1460971	hsa-miR-29a	CLIP-seq
MIRT1460972	hsa-miR-29b	CLIP-seq
MIRT1460973	hsa-miR-29c	CLIP-seq
MIRT1460974	hsa-miR-3065-3p	CLIP-seq
MIRT1460975	hsa-miR-3135b	CLIP-seq
MIRT1460976	hsa-miR-3140-5p	CLIP-seq
MIRT1460977	hsa-miR-3144-3p	CLIP-seq
MIRT1460978	hsa-miR-3156-3p	CLIP-seq
MIRT1460979	hsa-miR-3160-3p	CLIP-seq
MIRT1460980	hsa-miR-3177-5p	CLIP-seq
MIRT1460981	hsa-miR-345	CLIP-seq
MIRT1460982	hsa-miR-34a	CLIP-seq
MIRT1460983	hsa-miR-34c-5p	CLIP-seq
MIRT1460984	hsa-miR-3529	CLIP-seq
MIRT1460985	hsa-miR-3613-3p	CLIP-seq
MIRT1460986	hsa-miR-361-5p	CLIP-seq
MIRT1460987	hsa-miR-3619-5p	CLIP-seq
MIRT1460988	hsa-miR-3659	CLIP-seq
MIRT1460989	hsa-miR-3684	CLIP-seq
MIRT1460990	hsa-miR-3691-3p	CLIP-seq
MIRT1460991	hsa-miR-3691-5p	CLIP-seq
MIRT1460992	hsa-miR-379	CLIP-seq
MIRT1460993	hsa-miR-3915	CLIP-seq
MIRT1460994	hsa-miR-3928	CLIP-seq
MIRT1460995	hsa-miR-3929	CLIP-seq
MIRT1460996	hsa-miR-3942-3p	CLIP-seq
MIRT1460997	hsa-miR-4255	CLIP-seq
MIRT1460998	hsa-miR-4256	CLIP-seq
MIRT1460999	hsa-miR-4301	CLIP-seq
MIRT1461000	hsa-miR-4302	CLIP-seq
MIRT1461001	hsa-miR-4318	CLIP-seq
MIRT1461002	hsa-miR-4328	CLIP-seq
MIRT1461003	hsa-miR-4419b	CLIP-seq
MIRT1461004	hsa-miR-4427	CLIP-seq
MIRT1461005	hsa-miR-4451	CLIP-seq
MIRT1461006	hsa-miR-4478	CLIP-seq
MIRT1461007	hsa-miR-4487	CLIP-seq
MIRT1461008	hsa-miR-4496	CLIP-seq
MIRT1461009	hsa-miR-449a	CLIP-seq
MIRT1461010	hsa-miR-449b	CLIP-seq
MIRT1461011	hsa-miR-4530	CLIP-seq
MIRT1461012	hsa-miR-455-3p	CLIP-seq
MIRT1461013	hsa-miR-4643	CLIP-seq
MIRT1461014	hsa-miR-4650-3p	CLIP-seq
MIRT1461015	hsa-miR-4659a-3p	CLIP-seq
MIRT1461016	hsa-miR-4659b-3p	CLIP-seq
MIRT1461017	hsa-miR-466	CLIP-seq
MIRT1461018	hsa-miR-4662a-3p	CLIP-seq
MIRT1461019	hsa-miR-4688	CLIP-seq
MIRT1461020	hsa-miR-4689	CLIP-seq
MIRT1461021	hsa-miR-4752	CLIP-seq
MIRT1461022	hsa-miR-4755-3p	CLIP-seq
MIRT1461023	hsa-miR-4778-5p	CLIP-seq
MIRT1461024	hsa-miR-4789-3p	CLIP-seq
MIRT1461025	hsa-miR-539	CLIP-seq
MIRT1461026	hsa-miR-548ad	CLIP-seq
MIRT1461027	hsa-miR-548p	CLIP-seq
MIRT1461028	hsa-miR-556-5p	CLIP-seq
MIRT1461029	hsa-miR-558	CLIP-seq
MIRT1461030	hsa-miR-561	CLIP-seq
MIRT1461031	hsa-miR-580	CLIP-seq
MIRT1461032	hsa-miR-584	CLIP-seq
MIRT1461033	hsa-miR-634	CLIP-seq
MIRT1461034	hsa-miR-761	CLIP-seq
MIRT1461035	hsa-miR-875-5p	CLIP-seq
MIRT2138422	hsa-miR-1202	CLIP-seq
MIRT2138423	hsa-miR-1244	CLIP-seq
MIRT2138424	hsa-miR-1253	CLIP-seq
MIRT1460966	hsa-miR-1287	CLIP-seq
MIRT2138425	hsa-miR-132	CLIP-seq
MIRT1460967	hsa-miR-138	CLIP-seq
MIRT2138426	hsa-miR-142-5p	CLIP-seq
MIRT2138427	hsa-miR-199a-3p	CLIP-seq
MIRT2138428	hsa-miR-199b-3p	CLIP-seq
MIRT2138429	hsa-miR-212	CLIP-seq
MIRT2138430	hsa-miR-3129-5p	CLIP-seq
MIRT1460975	hsa-miR-3135b	CLIP-seq
MIRT2138431	hsa-miR-3161	CLIP-seq
MIRT1460989	hsa-miR-3684	CLIP-seq
MIRT2138432	hsa-miR-3920	CLIP-seq
MIRT2138433	hsa-miR-3972	CLIP-seq
MIRT2138434	hsa-miR-410	CLIP-seq
MIRT2138435	hsa-miR-4259	CLIP-seq
MIRT2138436	hsa-miR-4286	CLIP-seq
MIRT2138437	hsa-miR-433	CLIP-seq
MIRT2138438	hsa-miR-4452	CLIP-seq
MIRT1461018	hsa-miR-4662a-3p	CLIP-seq
MIRT2138439	hsa-miR-4678	CLIP-seq
MIRT1461022	hsa-miR-4755-3p	CLIP-seq
MIRT2138440	hsa-miR-4776-3p	CLIP-seq
MIRT2138441	hsa-miR-548a-5p	CLIP-seq
MIRT2138442	hsa-miR-548ab	CLIP-seq
MIRT2138443	hsa-miR-548ak	CLIP-seq
MIRT2138444	hsa-miR-548b-5p	CLIP-seq
MIRT2138445	hsa-miR-548c-5p	CLIP-seq
MIRT2138446	hsa-miR-548d-5p	CLIP-seq
MIRT2138447	hsa-miR-548h	CLIP-seq
MIRT2138448	hsa-miR-548i	CLIP-seq
MIRT2138449	hsa-miR-548j	CLIP-seq
MIRT2138450	hsa-miR-548k	CLIP-seq
MIRT2138451	hsa-miR-548l	CLIP-seq
MIRT1461027	hsa-miR-548p	CLIP-seq
MIRT2138452	hsa-miR-548w	CLIP-seq
MIRT2138453	hsa-miR-548y	CLIP-seq
MIRT2138454	hsa-miR-559	CLIP-seq
MIRT2138455	hsa-miR-622	CLIP-seq
MIRT1461033	hsa-miR-634	CLIP-seq
MIRT2138456	hsa-miR-936	CLIP-seq
MIRT1460959	hsa-miR-1224-3p	CLIP-seq
MIRT2359338	hsa-miR-1226	CLIP-seq
MIRT2138423	hsa-miR-1244	CLIP-seq
MIRT1460963	hsa-miR-1260	CLIP-seq
MIRT1460964	hsa-miR-1260b	CLIP-seq
MIRT2359339	hsa-miR-1263	CLIP-seq
MIRT1460965	hsa-miR-1280	CLIP-seq
MIRT2359340	hsa-miR-1303	CLIP-seq
MIRT2359341	hsa-miR-145	CLIP-seq
MIRT2359342	hsa-miR-186	CLIP-seq
MIRT1460968	hsa-miR-1910	CLIP-seq
MIRT2138427	hsa-miR-199a-3p	CLIP-seq
MIRT2359343	hsa-miR-199a-5p	CLIP-seq
MIRT2138428	hsa-miR-199b-3p	CLIP-seq
MIRT2359344	hsa-miR-199b-5p	CLIP-seq
MIRT2359345	hsa-miR-205	CLIP-seq
MIRT1460969	hsa-miR-214	CLIP-seq
MIRT1460970	hsa-miR-224	CLIP-seq
MIRT2359346	hsa-miR-2276	CLIP-seq
MIRT2359347	hsa-miR-28-3p	CLIP-seq
MIRT1460971	hsa-miR-29a	CLIP-seq
MIRT1460972	hsa-miR-29b	CLIP-seq
MIRT1460973	hsa-miR-29c	CLIP-seq
MIRT1460974	hsa-miR-3065-3p	CLIP-seq
MIRT2138430	hsa-miR-3129-5p	CLIP-seq
MIRT1460976	hsa-miR-3140-5p	CLIP-seq
MIRT1460978	hsa-miR-3156-3p	CLIP-seq
MIRT2359348	hsa-miR-323-3p	CLIP-seq
MIRT2359349	hsa-miR-3591-3p	CLIP-seq
MIRT2359350	hsa-miR-361-3p	CLIP-seq
MIRT2359351	hsa-miR-3614-5p	CLIP-seq
MIRT1460986	hsa-miR-361-5p	CLIP-seq
MIRT1460987	hsa-miR-3619-5p	CLIP-seq
MIRT2359352	hsa-miR-3679-3p	CLIP-seq
MIRT1460989	hsa-miR-3684	CLIP-seq
MIRT1460990	hsa-miR-3691-3p	CLIP-seq
MIRT2359353	hsa-miR-3692	CLIP-seq
MIRT2359354	hsa-miR-3974	CLIP-seq
MIRT2138435	hsa-miR-4259	CLIP-seq
MIRT2138436	hsa-miR-4286	CLIP-seq
MIRT1460999	hsa-miR-4301	CLIP-seq
MIRT2359355	hsa-miR-4305	CLIP-seq
MIRT1461002	hsa-miR-4328	CLIP-seq
MIRT2359356	hsa-miR-4422	CLIP-seq
MIRT2359357	hsa-miR-4425	CLIP-seq
MIRT2359358	hsa-miR-4446-5p	CLIP-seq
MIRT1461011	hsa-miR-4530	CLIP-seq
MIRT1461012	hsa-miR-455-3p	CLIP-seq
MIRT1461013	hsa-miR-4643	CLIP-seq
MIRT1461017	hsa-miR-466	CLIP-seq
MIRT2359359	hsa-miR-4690-3p	CLIP-seq
MIRT2359360	hsa-miR-4699-5p	CLIP-seq
MIRT2359361	hsa-miR-4712-5p	CLIP-seq
MIRT2359362	hsa-miR-4755-5p	CLIP-seq
MIRT2359363	hsa-miR-4766-5p	CLIP-seq
MIRT2359364	hsa-miR-4772-3p	CLIP-seq
MIRT1461024	hsa-miR-4789-3p	CLIP-seq
MIRT2359365	hsa-miR-4793-5p	CLIP-seq
MIRT2359366	hsa-miR-488	CLIP-seq
MIRT2359367	hsa-miR-511	CLIP-seq
MIRT2359368	hsa-miR-548g	CLIP-seq
MIRT2138451	hsa-miR-548l	CLIP-seq
MIRT2359369	hsa-miR-548n	CLIP-seq
MIRT1461033	hsa-miR-634	CLIP-seq
MIRT2359370	hsa-miR-664	CLIP-seq
MIRT1461034	hsa-miR-761	CLIP-seq
MIRT2359371	hsa-miR-770-5p	CLIP-seq
MIRT2359372	hsa-miR-873	CLIP-seq
MIRT2138456	hsa-miR-936	CLIP-seq
MIRT1460976	hsa-miR-3140-5p	CLIP-seq
MIRT2138422	hsa-miR-1202	CLIP-seq
MIRT2138424	hsa-miR-1253	CLIP-seq
MIRT2652568	hsa-miR-1276	CLIP-seq
MIRT1460966	hsa-miR-1287	CLIP-seq
MIRT2652569	hsa-miR-1298	CLIP-seq
MIRT1460967	hsa-miR-138	CLIP-seq
MIRT2138426	hsa-miR-142-5p	CLIP-seq
MIRT2652570	hsa-miR-143	CLIP-seq
MIRT2652571	hsa-miR-1587	CLIP-seq
MIRT2359342	hsa-miR-186	CLIP-seq
MIRT2652572	hsa-miR-197	CLIP-seq
MIRT2359343	hsa-miR-199a-5p	CLIP-seq
MIRT2359344	hsa-miR-199b-5p	CLIP-seq
MIRT1460969	hsa-miR-214	CLIP-seq
MIRT2652573	hsa-miR-218	CLIP-seq
MIRT2652574	hsa-miR-223	CLIP-seq
MIRT1460970	hsa-miR-224	CLIP-seq
MIRT1460971	hsa-miR-29a	CLIP-seq
MIRT1460972	hsa-miR-29b	CLIP-seq
MIRT1460973	hsa-miR-29c	CLIP-seq
MIRT1460974	hsa-miR-3065-3p	CLIP-seq
MIRT2652575	hsa-miR-3121-5p	CLIP-seq
MIRT1460975	hsa-miR-3135b	CLIP-seq
MIRT1460976	hsa-miR-3140-5p	CLIP-seq
MIRT2652576	hsa-miR-3145-3p	CLIP-seq
MIRT2138431	hsa-miR-3161	CLIP-seq
MIRT2652577	hsa-miR-320a	CLIP-seq
MIRT2652578	hsa-miR-320b	CLIP-seq
MIRT2652579	hsa-miR-320c	CLIP-seq
MIRT2652580	hsa-miR-320d	CLIP-seq
MIRT2359350	hsa-miR-361-3p	CLIP-seq
MIRT2359351	hsa-miR-3614-5p	CLIP-seq
MIRT1460987	hsa-miR-3619-5p	CLIP-seq
MIRT2652581	hsa-miR-3657	CLIP-seq
MIRT2652582	hsa-miR-3663-5p	CLIP-seq
MIRT2359352	hsa-miR-3679-3p	CLIP-seq
MIRT1460989	hsa-miR-3684	CLIP-seq
MIRT2652583	hsa-miR-3689a-5p	CLIP-seq
MIRT2652584	hsa-miR-3689b	CLIP-seq
MIRT2652585	hsa-miR-3689e	CLIP-seq
MIRT2652586	hsa-miR-3689f	CLIP-seq
MIRT1460990	hsa-miR-3691-3p	CLIP-seq
MIRT2652587	hsa-miR-378g	CLIP-seq
MIRT1460993	hsa-miR-3915	CLIP-seq
MIRT2652588	hsa-miR-3924	CLIP-seq
MIRT1460994	hsa-miR-3928	CLIP-seq
MIRT2138433	hsa-miR-3972	CLIP-seq
MIRT2652589	hsa-miR-3973	CLIP-seq
MIRT2359354	hsa-miR-3974	CLIP-seq
MIRT2652590	hsa-miR-3977	CLIP-seq
MIRT2138435	hsa-miR-4259	CLIP-seq
MIRT2652591	hsa-miR-4274	CLIP-seq
MIRT2138436	hsa-miR-4286	CLIP-seq
MIRT2652592	hsa-miR-4291	CLIP-seq
MIRT1461000	hsa-miR-4302	CLIP-seq
MIRT2652593	hsa-miR-4311	CLIP-seq
MIRT1461002	hsa-miR-4328	CLIP-seq
MIRT2138437	hsa-miR-433	CLIP-seq
MIRT2359356	hsa-miR-4422	CLIP-seq
MIRT2359357	hsa-miR-4425	CLIP-seq
MIRT2652594	hsa-miR-4429	CLIP-seq
MIRT2652595	hsa-miR-4436b-3p	CLIP-seq
MIRT2652596	hsa-miR-4436b-5p	CLIP-seq
MIRT2359358	hsa-miR-4446-5p	CLIP-seq
MIRT2652597	hsa-miR-4476	CLIP-seq
MIRT2652598	hsa-miR-4492	CLIP-seq
MIRT2652599	hsa-miR-4498	CLIP-seq
MIRT2652600	hsa-miR-4511	CLIP-seq
MIRT1461011	hsa-miR-4530	CLIP-seq
MIRT2652601	hsa-miR-4656	CLIP-seq
MIRT2652602	hsa-miR-4659a-5p	CLIP-seq
MIRT2652603	hsa-miR-4659b-5p	CLIP-seq
MIRT1461018	hsa-miR-4662a-3p	CLIP-seq
MIRT2652604	hsa-miR-4669	CLIP-seq
MIRT2652605	hsa-miR-4675	CLIP-seq
MIRT2138439	hsa-miR-4678	CLIP-seq
MIRT2652606	hsa-miR-4724-3p	CLIP-seq
MIRT2652607	hsa-miR-4741	CLIP-seq
MIRT2652608	hsa-miR-4753-3p	CLIP-seq
MIRT1461022	hsa-miR-4755-3p	CLIP-seq
MIRT2359362	hsa-miR-4755-5p	CLIP-seq
MIRT2359363	hsa-miR-4766-5p	CLIP-seq
MIRT2652609	hsa-miR-4768-5p	CLIP-seq
MIRT2652610	hsa-miR-4770	CLIP-seq
MIRT2652611	hsa-miR-4773	CLIP-seq
MIRT2138440	hsa-miR-4776-3p	CLIP-seq
MIRT2359365	hsa-miR-4793-5p	CLIP-seq
MIRT2359366	hsa-miR-488	CLIP-seq
MIRT2652612	hsa-miR-494	CLIP-seq
MIRT2652613	hsa-miR-520g	CLIP-seq
MIRT2652614	hsa-miR-520h	CLIP-seq
MIRT2652615	hsa-miR-545	CLIP-seq
MIRT2138441	hsa-miR-548a-5p	CLIP-seq
MIRT2138442	hsa-miR-548ab	CLIP-seq
MIRT2652616	hsa-miR-548ag	CLIP-seq
MIRT2652617	hsa-miR-548ai	CLIP-seq
MIRT2138443	hsa-miR-548ak	CLIP-seq
MIRT2652618	hsa-miR-548b-3p	CLIP-seq
MIRT2138444	hsa-miR-548b-5p	CLIP-seq
MIRT2138445	hsa-miR-548c-5p	CLIP-seq
MIRT2138446	hsa-miR-548d-5p	CLIP-seq
MIRT2138447	hsa-miR-548h	CLIP-seq
MIRT2138448	hsa-miR-548i	CLIP-seq
MIRT2138449	hsa-miR-548j	CLIP-seq
MIRT2138450	hsa-miR-548k	CLIP-seq
MIRT2138451	hsa-miR-548l	CLIP-seq
MIRT1461027	hsa-miR-548p	CLIP-seq
MIRT2138452	hsa-miR-548w	CLIP-seq
MIRT2138453	hsa-miR-548y	CLIP-seq
MIRT2138454	hsa-miR-559	CLIP-seq
MIRT2652619	hsa-miR-583	CLIP-seq
MIRT1461033	hsa-miR-634	CLIP-seq
MIRT2652620	hsa-miR-636	CLIP-seq
MIRT2652621	hsa-miR-661	CLIP-seq
MIRT2359370	hsa-miR-664	CLIP-seq
MIRT1461034	hsa-miR-761	CLIP-seq
MIRT2652622	hsa-miR-762	CLIP-seq
MIRT2652623	hsa-miR-922	CLIP-seq
MIRT2138422	hsa-miR-1202	CLIP-seq
MIRT1460959	hsa-miR-1224-3p	CLIP-seq
MIRT1460963	hsa-miR-1260	CLIP-seq
MIRT1460964	hsa-miR-1260b	CLIP-seq
MIRT2652568	hsa-miR-1276	CLIP-seq
MIRT1460965	hsa-miR-1280	CLIP-seq
MIRT1460966	hsa-miR-1287	CLIP-seq
MIRT2652569	hsa-miR-1298	CLIP-seq
MIRT1460967	hsa-miR-138	CLIP-seq
MIRT2138426	hsa-miR-142-5p	CLIP-seq
MIRT2652570	hsa-miR-143	CLIP-seq
MIRT2652571	hsa-miR-1587	CLIP-seq
MIRT2359342	hsa-miR-186	CLIP-seq
MIRT2652572	hsa-miR-197	CLIP-seq
MIRT2359343	hsa-miR-199a-5p	CLIP-seq
MIRT2359344	hsa-miR-199b-5p	CLIP-seq
MIRT2652573	hsa-miR-218	CLIP-seq
MIRT2652574	hsa-miR-223	CLIP-seq
MIRT1460974	hsa-miR-3065-3p	CLIP-seq
MIRT2652575	hsa-miR-3121-5p	CLIP-seq
MIRT1460975	hsa-miR-3135b	CLIP-seq
MIRT1460976	hsa-miR-3140-5p	CLIP-seq
MIRT2652576	hsa-miR-3145-3p	CLIP-seq
MIRT2138431	hsa-miR-3161	CLIP-seq
MIRT2652577	hsa-miR-320a	CLIP-seq
MIRT2652578	hsa-miR-320b	CLIP-seq
MIRT2652579	hsa-miR-320c	CLIP-seq
MIRT2652580	hsa-miR-320d	CLIP-seq
MIRT2359350	hsa-miR-361-3p	CLIP-seq
MIRT2359351	hsa-miR-3614-5p	CLIP-seq
MIRT2652581	hsa-miR-3657	CLIP-seq
MIRT2652582	hsa-miR-3663-5p	CLIP-seq
MIRT2359352	hsa-miR-3679-3p	CLIP-seq
MIRT2652583	hsa-miR-3689a-5p	CLIP-seq
MIRT2652584	hsa-miR-3689b	CLIP-seq
MIRT2652585	hsa-miR-3689e	CLIP-seq
MIRT2652586	hsa-miR-3689f	CLIP-seq
MIRT2652587	hsa-miR-378g	CLIP-seq
MIRT1460993	hsa-miR-3915	CLIP-seq
MIRT2652588	hsa-miR-3924	CLIP-seq
MIRT1460994	hsa-miR-3928	CLIP-seq
MIRT2138433	hsa-miR-3972	CLIP-seq
MIRT2652589	hsa-miR-3973	CLIP-seq
MIRT2359354	hsa-miR-3974	CLIP-seq
MIRT2652590	hsa-miR-3977	CLIP-seq
MIRT2138435	hsa-miR-4259	CLIP-seq
MIRT2652591	hsa-miR-4274	CLIP-seq
MIRT2138436	hsa-miR-4286	CLIP-seq
MIRT2652592	hsa-miR-4291	CLIP-seq
MIRT1461000	hsa-miR-4302	CLIP-seq
MIRT2652593	hsa-miR-4311	CLIP-seq
MIRT1461002	hsa-miR-4328	CLIP-seq
MIRT2138437	hsa-miR-433	CLIP-seq
MIRT2359356	hsa-miR-4422	CLIP-seq
MIRT2359357	hsa-miR-4425	CLIP-seq
MIRT2652594	hsa-miR-4429	CLIP-seq
MIRT2652596	hsa-miR-4436b-5p	CLIP-seq
MIRT2652597	hsa-miR-4476	CLIP-seq
MIRT2652598	hsa-miR-4492	CLIP-seq
MIRT2652599	hsa-miR-4498	CLIP-seq
MIRT2652600	hsa-miR-4511	CLIP-seq
MIRT2652601	hsa-miR-4656	CLIP-seq
MIRT2652602	hsa-miR-4659a-5p	CLIP-seq
MIRT2652603	hsa-miR-4659b-5p	CLIP-seq
MIRT1461018	hsa-miR-4662a-3p	CLIP-seq
MIRT2652604	hsa-miR-4669	CLIP-seq
MIRT2652605	hsa-miR-4675	CLIP-seq
MIRT2138439	hsa-miR-4678	CLIP-seq
MIRT2652606	hsa-miR-4724-3p	CLIP-seq
MIRT2652607	hsa-miR-4741	CLIP-seq
MIRT2652608	hsa-miR-4753-3p	CLIP-seq
MIRT1461022	hsa-miR-4755-3p	CLIP-seq
MIRT2359363	hsa-miR-4766-5p	CLIP-seq
MIRT2652609	hsa-miR-4768-5p	CLIP-seq
MIRT2652610	hsa-miR-4770	CLIP-seq
MIRT2652611	hsa-miR-4773	CLIP-seq
MIRT2138440	hsa-miR-4776-3p	CLIP-seq
MIRT2359365	hsa-miR-4793-5p	CLIP-seq
MIRT2359366	hsa-miR-488	CLIP-seq
MIRT2652612	hsa-miR-494	CLIP-seq
MIRT2652613	hsa-miR-520g	CLIP-seq
MIRT2652614	hsa-miR-520h	CLIP-seq
MIRT2138441	hsa-miR-548a-5p	CLIP-seq
MIRT2138442	hsa-miR-548ab	CLIP-seq
MIRT2652616	hsa-miR-548ag	CLIP-seq
MIRT2652617	hsa-miR-548ai	CLIP-seq
MIRT2138443	hsa-miR-548ak	CLIP-seq
MIRT2652618	hsa-miR-548b-3p	CLIP-seq
MIRT2138444	hsa-miR-548b-5p	CLIP-seq
MIRT2138445	hsa-miR-548c-5p	CLIP-seq
MIRT2138446	hsa-miR-548d-5p	CLIP-seq
MIRT2138447	hsa-miR-548h	CLIP-seq
MIRT2138448	hsa-miR-548i	CLIP-seq
MIRT2138449	hsa-miR-548j	CLIP-seq
MIRT2138450	hsa-miR-548k	CLIP-seq
MIRT2138451	hsa-miR-548l	CLIP-seq
MIRT1461027	hsa-miR-548p	CLIP-seq
MIRT2138452	hsa-miR-548w	CLIP-seq
MIRT2138453	hsa-miR-548y	CLIP-seq
MIRT2138454	hsa-miR-559	CLIP-seq
MIRT2652619	hsa-miR-583	CLIP-seq
MIRT2652620	hsa-miR-636	CLIP-seq
MIRT2652621	hsa-miR-661	CLIP-seq
MIRT2359370	hsa-miR-664	CLIP-seq
MIRT2652622	hsa-miR-762	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	TAS	20208530
GO:0005515	Function	Protein binding	IPI	16713569, 20208530, 23414517, 25416956, 28514442, 31617661, 32296183, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	21278747
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005813	Component	Centrosome	TAS	20208530
GO:0016020	Component	Membrane	IEA
GO:0030496	Component	Midbody	TAS	20208530
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IBA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IMP	21278747
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
613814	26006	ENSG00000011295

Q6DKK2

Protein name

Tetratricopeptide repeat protein 19, mitochondrial (TPR repeat protein 19)

Protein function

Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13424	TPR_12	244 → 311		Repeat

Sequence

MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLL
AALAWFSRPAAAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILH
DALRLAYQTDNKKAITYTYDLMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIE
ISLKLASIYAAQNRQEFAVAGYEFCISTLEEKIEREKELAEDIMSVEEKANTHLLLGMCL
DACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIVLMSDLATTLDAQGRFDEAYI
YMQRASDLARQINHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKLKKDEISVQHI
REELAELSKKSRPLTNSVKL

Sequence length

380

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Likely pathogenic; Pathogenic	rs764720544	RCV003328480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex III deficiency nuclear type 2	Pathogenic; Likely pathogenic	rs794726691, rs794726692, rs1970827663, rs752231020, rs2549928140, rs2549928014, rs992290703, rs2549951241, rs747166010, rs387907094, rs1555530551, rs1970827483, rs764720544	RCV000088675 RCV000088678 RCV001785094 RCV003148151 RCV003482205 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Pathogenic	rs758193274	RCV003315115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY	—	CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex III deficiency nuclear type 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TTC19-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	25887401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33066754	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	25887401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	24397319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	21278747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	21278747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25887401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	21278747, 29243944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gait Disorders, Neurologic	Gait disturbance	CTD_human_DG	21278747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25887401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex III deficiency	Isolated Complex III Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	25887401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	BEFREE	21278747, 25899669, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	21278747, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24397319, 36065636	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29243944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	23532514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	28804536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	21278747, 24397319, 25452764, 25613900, 25772319, 25887401, 28673544, 29961508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25887401	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	21278747		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	25652355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24397319	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	21278747		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24397319, 25887401		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	24397319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36065636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	CTD_human_DG	21278747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37928256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TTC19 (tetratricopeptide repeat domain 19)