TIMM50 (translocase of inner mitochondrial membrane 50)

Gene

• Entrez ID: 92609
• Gene name: Translocase of inner mitochondrial membrane 50
• Gene symbol: TIMM50
• Synonyms (NCBI Gene): MGCA9, TIM50, TIM50L
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35135520	C>A,G,T	Benign, pathogenic	Coding sequence variant, stop gained, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs776019250	G>C,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs797044891	G>A	Pathogenic	Missense variant, coding sequence variant
rs1244226820	C>T	Pathogenic	Coding sequence variant, missense variant
rs1300848445	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1305711807	G>A	Pathogenic	Coding sequence variant, missense variant
rs1449758112	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016403	hsa-miR-193b-3p	Proteomics	21512034
MIRT025669	hsa-miR-7-5p	Microarray	19073608
MIRT052037	hsa-let-7b-5p	CLASH	23622248
MIRT051530	hsa-let-7e-5p	CLASH	23622248
MIRT046584	hsa-miR-222-3p	CLASH	23622248
MIRT046584	hsa-miR-222-3p	CLASH	23622248
MIRT043156	hsa-miR-324-5p	CLASH	23622248
MIRT041979	hsa-miR-484	CLASH	23622248
MIRT039882	hsa-miR-615-3p	CLASH	23622248
MIRT039882	hsa-miR-615-3p	CLASH	23622248
MIRT707094	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707093	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707092	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707091	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707090	hsa-miR-4421	HITS-CLIP	21572407
MIRT707089	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707088	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707087	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707086	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707085	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677920	hsa-miR-4635	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676082	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT676081	hsa-miR-520h	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT640216	hsa-miR-890	HITS-CLIP	23824327
MIRT640215	hsa-miR-4293	HITS-CLIP	23824327
MIRT640214	hsa-miR-5690	HITS-CLIP	23824327
MIRT640213	hsa-miR-544b	HITS-CLIP	23824327
MIRT640212	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT640211	hsa-miR-1827	HITS-CLIP	23824327
MIRT640210	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT640209	hsa-miR-6090	HITS-CLIP	23824327
MIRT640208	hsa-miR-4300	HITS-CLIP	23824327
MIRT640207	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT640206	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT640205	hsa-miR-920	HITS-CLIP	23824327
MIRT640204	hsa-miR-7977	HITS-CLIP	23824327
MIRT640203	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT640202	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT640201	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT640200	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT640199	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT640198	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT640197	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT640196	hsa-miR-3689c	HITS-CLIP	23824327
MIRT640195	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT640194	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT640193	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT707094	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707093	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707092	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707091	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707090	hsa-miR-4421	HITS-CLIP	21572407
MIRT707089	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707088	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707087	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707086	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707085	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT677921	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677920	hsa-miR-4635	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677919	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT676082	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT676081	hsa-miR-520h	HITS-CLIP	23824327
MIRT676080	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676079	hsa-miR-764	HITS-CLIP	23824327
MIRT676078	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676077	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676076	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT676075	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676074	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676073	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676072	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676071	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676070	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676069	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676068	hsa-miR-640	HITS-CLIP	23824327
MIRT640216	hsa-miR-890	HITS-CLIP	23824327
MIRT640215	hsa-miR-4293	HITS-CLIP	23824327
MIRT640214	hsa-miR-5690	HITS-CLIP	23824327
MIRT640213	hsa-miR-544b	HITS-CLIP	23824327
MIRT640212	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT640211	hsa-miR-1827	HITS-CLIP	23824327
MIRT640210	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT640209	hsa-miR-6090	HITS-CLIP	23824327
MIRT640208	hsa-miR-4300	HITS-CLIP	23824327
MIRT640207	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT640206	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT640205	hsa-miR-920	HITS-CLIP	23824327
MIRT640204	hsa-miR-7977	HITS-CLIP	23824327
MIRT640203	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT640202	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT640201	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT640200	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT640199	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT640198	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT640197	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT640196	hsa-miR-3689c	HITS-CLIP	23824327
MIRT640195	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT640194	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT640193	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT1425060	hsa-miR-10a	CLIP-seq
MIRT1425061	hsa-miR-10b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT1425063	hsa-miR-1291	CLIP-seq
MIRT1425064	hsa-miR-1299	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT1425066	hsa-miR-3938	CLIP-seq
MIRT1425067	hsa-miR-3977	CLIP-seq
MIRT1425068	hsa-miR-4252	CLIP-seq
MIRT1425069	hsa-miR-4527	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT1425071	hsa-miR-4725-5p	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT1425073	hsa-miR-504	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425077	hsa-miR-671-5p	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT1425080	hsa-miR-875-3p	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127387	hsa-miR-214	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127393	hsa-miR-3614-5p	CLIP-seq
MIRT2127394	hsa-miR-3619-5p	CLIP-seq
MIRT2127395	hsa-miR-3665	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2127400	hsa-miR-4459	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2127402	hsa-miR-4779	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT2127412	hsa-miR-644	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT2127413	hsa-miR-761	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT1425064	hsa-miR-1299	CLIP-seq
MIRT2349188	hsa-miR-1304	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2349190	hsa-miR-2467-5p	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2349191	hsa-miR-3188	CLIP-seq
MIRT2349192	hsa-miR-3545-3p	CLIP-seq
MIRT2127393	hsa-miR-3614-5p	CLIP-seq
MIRT2349193	hsa-miR-3663-5p	CLIP-seq
MIRT2349194	hsa-miR-3664-3p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2349195	hsa-miR-3929	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2349196	hsa-miR-3975	CLIP-seq
MIRT2349197	hsa-miR-4419b	CLIP-seq
MIRT2349198	hsa-miR-4433	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2349199	hsa-miR-4453	CLIP-seq
MIRT2127400	hsa-miR-4459	CLIP-seq
MIRT2349200	hsa-miR-4478	CLIP-seq
MIRT1425069	hsa-miR-4527	CLIP-seq
MIRT2349201	hsa-miR-4538	CLIP-seq
MIRT2349202	hsa-miR-4695-5p	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2349203	hsa-miR-4722-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2349204	hsa-miR-4760-5p	CLIP-seq
MIRT2349205	hsa-miR-4768-3p	CLIP-seq
MIRT2127402	hsa-miR-4779	CLIP-seq
MIRT1425072	hsa-miR-4786-5p	CLIP-seq
MIRT2349206	hsa-miR-485-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2349207	hsa-miR-510	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT2349209	hsa-miR-635	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425077	hsa-miR-671-5p	CLIP-seq
MIRT2349210	hsa-miR-7	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT1425079	hsa-miR-769-5p	CLIP-seq
MIRT1425080	hsa-miR-875-3p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2349211	hsa-miR-940	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT2642479	hsa-miR-1283	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2642480	hsa-miR-218	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT2642481	hsa-miR-3613-3p	CLIP-seq
MIRT2642482	hsa-miR-3667-5p	CLIP-seq
MIRT2642483	hsa-miR-3675-3p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2642484	hsa-miR-4282	CLIP-seq
MIRT2642485	hsa-miR-4286	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT2642486	hsa-miR-4716-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT2642487	hsa-miR-636	CLIP-seq
MIRT2642488	hsa-miR-885-3p	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq
MIRT2127381	hsa-miR-106a	CLIP-seq
MIRT2127382	hsa-miR-106b	CLIP-seq
MIRT2461482	hsa-miR-1273f	CLIP-seq
MIRT1425062	hsa-miR-1285	CLIP-seq
MIRT2349188	hsa-miR-1304	CLIP-seq
MIRT2349189	hsa-miR-136	CLIP-seq
MIRT2127383	hsa-miR-150	CLIP-seq
MIRT2127384	hsa-miR-17	CLIP-seq
MIRT2127385	hsa-miR-20a	CLIP-seq
MIRT2127386	hsa-miR-20b	CLIP-seq
MIRT2127388	hsa-miR-302a	CLIP-seq
MIRT2127389	hsa-miR-302b	CLIP-seq
MIRT2127390	hsa-miR-302c	CLIP-seq
MIRT2127391	hsa-miR-302d	CLIP-seq
MIRT2127392	hsa-miR-302e	CLIP-seq
MIRT2461483	hsa-miR-3149	CLIP-seq
MIRT2461484	hsa-miR-3170	CLIP-seq
MIRT1425065	hsa-miR-3187-5p	CLIP-seq
MIRT2127396	hsa-miR-372	CLIP-seq
MIRT2127397	hsa-miR-373	CLIP-seq
MIRT2127398	hsa-miR-3934	CLIP-seq
MIRT2461485	hsa-miR-411	CLIP-seq
MIRT2127399	hsa-miR-4438	CLIP-seq
MIRT1425070	hsa-miR-4709-5p	CLIP-seq
MIRT2642486	hsa-miR-4716-5p	CLIP-seq
MIRT2127401	hsa-miR-4731-5p	CLIP-seq
MIRT2461486	hsa-miR-4735-5p	CLIP-seq
MIRT2461487	hsa-miR-4775	CLIP-seq
MIRT1425074	hsa-miR-508-5p	CLIP-seq
MIRT2127403	hsa-miR-5095	CLIP-seq
MIRT2127404	hsa-miR-512-3p	CLIP-seq
MIRT2349208	hsa-miR-515-5p	CLIP-seq
MIRT2127405	hsa-miR-519d	CLIP-seq
MIRT2127406	hsa-miR-520a-3p	CLIP-seq
MIRT2127407	hsa-miR-520b	CLIP-seq
MIRT2127408	hsa-miR-520c-3p	CLIP-seq
MIRT2127409	hsa-miR-520d-3p	CLIP-seq
MIRT2127410	hsa-miR-520e	CLIP-seq
MIRT2127411	hsa-miR-520g	CLIP-seq
MIRT2461488	hsa-miR-590-3p	CLIP-seq
MIRT1425075	hsa-miR-612	CLIP-seq
MIRT1425076	hsa-miR-661	CLIP-seq
MIRT1425078	hsa-miR-766	CLIP-seq
MIRT2127414	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001836	Process	Release of cytochrome c from mitochondria	IDA	15044455
GO:0003723	Function	RNA binding	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	15044455
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	15044455
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	15044455
GO:0005134	Function	Interleukin-2 receptor binding	IDA	15044455
GO:0005515	Function	Protein binding	IPI	12620389, 15044455, 25852190, 31980649, 37045861
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	32848200
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	15044455
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	10339406
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IBA
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IDA	30598479
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	IPI	15044455
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	NAS	10339406
GO:0005783	Component	Endoplasmic reticulum	IDA	32848200
GO:0005794	Component	Golgi apparatus	IDA	32848200
GO:0006470	Process	Protein dephosphorylation	IDA	15044455
GO:0006886	Process	Intracellular protein transport	NAS	10339406
GO:0007006	Process	Mitochondrial membrane organization	IMP	15044455
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA	16008839
GO:0016607	Component	Nuclear speck	IEA
GO:0030150	Process	Protein import into mitochondrial matrix	IBA
GO:0030150	Process	Protein import into mitochondrial matrix	IDA	38828998
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	16008839
GO:0140608	Function	Cysteine-type endopeptidase activator activity	IDA	32848200

Other IDs

• MIM: 607381
• HGNC: 23656
• e!Ensembl: ENSG00000105197

Protein

• UniProt ID: Q3ZCQ8
• Protein name: Mitochondrial import inner membrane translocase subunit TIM50
• Protein function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:30190335, PubMed:38828998). Has some phosphatase activity in vitro; howeve
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03031	NIF	148 → 295	NLI interacting factor-like phosphatase	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level). {ECO:0000269|PubMed:15044455, ECO:0000269|PubMed:16008839}.
• Sequence:

  MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGSTKAQGPQQQPGSEGP
  SYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEFDNDPILVQQLRRTYKYFK
  DYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLHPEWSLATGWRFKKRPGIETL
  FQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDATRYMDGHHVKDISCLNRD
  PARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSAFLKTIALNGVEDVRTVLEH
  YALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLGSLTSRLWPRSKQP

• Sequence length: 353

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
3-methylglutaconic aciduria type 9	Likely pathogenic; Pathogenic	rs1457024558, rs797044891, rs1244226820, rs1305711807, rs776019250, rs35135520	RCV002308496 RCV001812182 RCV000509024 RCV000578358 RCV001328001 RCV001328000	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial encephalopathy	Pathogenic	rs776019250, rs35135520	RCV000677433 RCV000677434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ 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
Mitochondrial disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIMM50-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-METHYLGLUTACONIC ACIDURIA, TYPE IX	3-Methylglutaconic aciduria	GENOMICS_ENGLAND_DG	27573165, 31058414		★☆☆☆☆ Found in Text Mining only
3-METHYLGLUTACONIC ACIDURIA, TYPE IX	3-Methylglutaconic aciduria	UNIPROT_DG	27573165		★☆☆☆☆ Found in Text Mining only
3-METHYLGLUTACONIC ACIDURIA, TYPE IX	3-Methylglutaconic aciduria	ORPHANET_DG	27573165		★☆☆☆☆ Found in Text Mining only
3-METHYLGLUTACONIC ACIDURIA, TYPE IX	3-Methylglutaconic aciduria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30190335	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21621504, 30604908		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21621504	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26289846	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31058414		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28432072		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27573165, 35019165	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37259038	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27573165		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27573165	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32130753	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28432072		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27573165, 35019165	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	31058414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21621504, 30604908		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30190335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	27573165	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial encephalopathy	Mitochondrial encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30604908		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	31058414		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30604908		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	31058414		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27573165		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	31058414		★☆☆☆☆ Found in Text Mining only