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	84705
Gene name	GTP binding protein 3, mitochondrial
Gene symbol	GTPBP3
Synonyms (NCBI Gene)	COXPD23GTPBG3MSS1MTGP1THDF1
Chromosome	19
Chromosome location	19p13.11
Summary	This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a diseas

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SNP ID	Visualize variation	Clinical significance	Consequence
rs372174278	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs558425417	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs730880255	A>T	Pathogenic	Coding sequence variant, missense variant
rs748022451	G>C,T	Likely-pathogenic	Intron variant
rs765129583	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs770871640	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs774708853	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869320746	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886037734	G>A	Pathogenic	Missense variant, coding sequence variant
rs886037735	G>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs886037736	AA>GTG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886041488	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1019249439	T>A,C,G	Pathogenic	Intron variant, missense variant, initiator codon variant
rs1274363168	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555726849	G>T	Pathogenic	Coding sequence variant, stop gained
rs1599560256	G>T	Pathogenic	Coding sequence variant, stop gained

329

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001627	hsa-let-7b-5p	pSILAC	18668040
MIRT001627	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT567388	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT567387	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT567386	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT567385	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT567384	hsa-miR-4262	PAR-CLIP	20371350
MIRT567383	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT567382	hsa-miR-5694	PAR-CLIP	20371350
MIRT081397	hsa-miR-3622a-3p	PAR-CLIP	20371350
MIRT081398	hsa-miR-3622b-3p	PAR-CLIP	20371350
MIRT567381	hsa-miR-6765-3p	PAR-CLIP	20371350
MIRT081399	hsa-miR-4682	PAR-CLIP	20371350
MIRT567380	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT567379	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT567378	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT567377	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT567376	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT567375	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT567374	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT567373	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT567372	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT567371	hsa-miR-526a	PAR-CLIP	20371350
MIRT567370	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT567369	hsa-miR-2681-5p	PAR-CLIP	20371350
MIRT567388	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT567387	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT567386	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT567385	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT567384	hsa-miR-4262	PAR-CLIP	20371350
MIRT567383	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT567382	hsa-miR-5694	PAR-CLIP	20371350
MIRT081397	hsa-miR-3622a-3p	PAR-CLIP	20371350
MIRT081398	hsa-miR-3622b-3p	PAR-CLIP	20371350
MIRT567381	hsa-miR-6765-3p	PAR-CLIP	20371350
MIRT081399	hsa-miR-4682	PAR-CLIP	20371350
MIRT567380	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT567379	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT567378	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT567377	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT567376	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT567375	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT567374	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT567373	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT567372	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT567371	hsa-miR-526a	PAR-CLIP	20371350
MIRT567370	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT567369	hsa-miR-2681-5p	PAR-CLIP	20371350
MIRT1038067	hsa-miR-1262	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038069	hsa-miR-2114	CLIP-seq
MIRT1038070	hsa-miR-2682	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT1038072	hsa-miR-335	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038077	hsa-miR-3929	CLIP-seq
MIRT1038078	hsa-miR-4419b	CLIP-seq
MIRT1038079	hsa-miR-4478	CLIP-seq
MIRT1038080	hsa-miR-449c	CLIP-seq
MIRT1038081	hsa-miR-4539	CLIP-seq
MIRT1038082	hsa-miR-4649-3p	CLIP-seq
MIRT1038083	hsa-miR-4679	CLIP-seq
MIRT1038084	hsa-miR-4680-5p	CLIP-seq
MIRT1038085	hsa-miR-4701-3p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038087	hsa-miR-4724-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT1038090	hsa-miR-485-5p	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT1038092	hsa-miR-542-3p	CLIP-seq
MIRT1038093	hsa-miR-544b	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT1038096	hsa-miR-888	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq
MIRT1038098	hsa-miR-1205	CLIP-seq
MIRT1038099	hsa-miR-1207-3p	CLIP-seq
MIRT1038067	hsa-miR-1262	CLIP-seq
MIRT1038100	hsa-miR-1299	CLIP-seq
MIRT1038101	hsa-miR-136	CLIP-seq
MIRT1038102	hsa-miR-181a	CLIP-seq
MIRT1038103	hsa-miR-181b	CLIP-seq
MIRT1038104	hsa-miR-181c	CLIP-seq
MIRT1038105	hsa-miR-181d	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038106	hsa-miR-1909	CLIP-seq
MIRT1038069	hsa-miR-2114	CLIP-seq
MIRT1038107	hsa-miR-2861	CLIP-seq
MIRT1038108	hsa-miR-3120-5p	CLIP-seq
MIRT1038109	hsa-miR-3153	CLIP-seq
MIRT1038110	hsa-miR-3157-5p	CLIP-seq
MIRT1038111	hsa-miR-3179	CLIP-seq
MIRT1038112	hsa-miR-3189-5p	CLIP-seq
MIRT1038113	hsa-miR-3202	CLIP-seq
MIRT1038072	hsa-miR-335	CLIP-seq
MIRT1038114	hsa-miR-338-3p	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038115	hsa-miR-3613-3p	CLIP-seq
MIRT1038116	hsa-miR-3614-5p	CLIP-seq
MIRT1038117	hsa-miR-3649	CLIP-seq
MIRT1038118	hsa-miR-3664-5p	CLIP-seq
MIRT1038119	hsa-miR-3689d	CLIP-seq
MIRT1038120	hsa-miR-371-5p	CLIP-seq
MIRT1038121	hsa-miR-371b-5p	CLIP-seq
MIRT1038122	hsa-miR-3918	CLIP-seq
MIRT1038077	hsa-miR-3929	CLIP-seq
MIRT1038123	hsa-miR-3973	CLIP-seq
MIRT1038124	hsa-miR-3978	CLIP-seq
MIRT1038125	hsa-miR-4271	CLIP-seq
MIRT1038126	hsa-miR-4293	CLIP-seq
MIRT1038127	hsa-miR-4323	CLIP-seq
MIRT1038078	hsa-miR-4419b	CLIP-seq
MIRT1038079	hsa-miR-4478	CLIP-seq
MIRT1038128	hsa-miR-4512	CLIP-seq
MIRT1038129	hsa-miR-4522	CLIP-seq
MIRT1038081	hsa-miR-4539	CLIP-seq
MIRT1038082	hsa-miR-4649-3p	CLIP-seq
MIRT1038084	hsa-miR-4680-5p	CLIP-seq
MIRT1038130	hsa-miR-4684-5p	CLIP-seq
MIRT1038131	hsa-miR-4685-5p	CLIP-seq
MIRT1038132	hsa-miR-4690-3p	CLIP-seq
MIRT1038133	hsa-miR-4695-3p	CLIP-seq
MIRT1038085	hsa-miR-4701-3p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038087	hsa-miR-4724-5p	CLIP-seq
MIRT1038134	hsa-miR-4725-3p	CLIP-seq
MIRT1038135	hsa-miR-4733-5p	CLIP-seq
MIRT1038136	hsa-miR-4747-5p	CLIP-seq
MIRT1038137	hsa-miR-4758-3p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT1038138	hsa-miR-4782-5p	CLIP-seq
MIRT1038090	hsa-miR-485-5p	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT1038139	hsa-miR-516b	CLIP-seq
MIRT1038140	hsa-miR-520g	CLIP-seq
MIRT1038141	hsa-miR-520h	CLIP-seq
MIRT1038092	hsa-miR-542-3p	CLIP-seq
MIRT1038142	hsa-miR-543	CLIP-seq
MIRT1038143	hsa-miR-548c-3p	CLIP-seq
MIRT1038144	hsa-miR-593	CLIP-seq
MIRT1038145	hsa-miR-596	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT1038146	hsa-miR-875-3p	CLIP-seq
MIRT1038096	hsa-miR-888	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq
MIRT1038067	hsa-miR-1262	CLIP-seq
MIRT2007750	hsa-miR-1285	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038069	hsa-miR-2114	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT2007751	hsa-miR-3187-5p	CLIP-seq
MIRT2007752	hsa-miR-323-5p	CLIP-seq
MIRT1038072	hsa-miR-335	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038116	hsa-miR-3614-5p	CLIP-seq
MIRT2007753	hsa-miR-3650	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038119	hsa-miR-3689d	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038077	hsa-miR-3929	CLIP-seq
MIRT1038078	hsa-miR-4419b	CLIP-seq
MIRT1038079	hsa-miR-4478	CLIP-seq
MIRT1038081	hsa-miR-4539	CLIP-seq
MIRT1038082	hsa-miR-4649-3p	CLIP-seq
MIRT1038084	hsa-miR-4680-5p	CLIP-seq
MIRT1038085	hsa-miR-4701-3p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038087	hsa-miR-4724-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT2007754	hsa-miR-4793-3p	CLIP-seq
MIRT1038090	hsa-miR-485-5p	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT2007755	hsa-miR-612	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT2007756	hsa-miR-876-3p	CLIP-seq
MIRT1038096	hsa-miR-888	CLIP-seq
MIRT2007757	hsa-miR-933	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq
MIRT2240450	hsa-miR-1225-3p	CLIP-seq
MIRT2240451	hsa-miR-1233	CLIP-seq
MIRT1038067	hsa-miR-1262	CLIP-seq
MIRT2240452	hsa-miR-1273f	CLIP-seq
MIRT2240453	hsa-miR-140-3p	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038069	hsa-miR-2114	CLIP-seq
MIRT1038070	hsa-miR-2682	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT2240454	hsa-miR-3154	CLIP-seq
MIRT1038112	hsa-miR-3189-5p	CLIP-seq
MIRT2007752	hsa-miR-323-5p	CLIP-seq
MIRT1038072	hsa-miR-335	CLIP-seq
MIRT1038114	hsa-miR-338-3p	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038116	hsa-miR-3614-5p	CLIP-seq
MIRT2240455	hsa-miR-3647-3p	CLIP-seq
MIRT2007753	hsa-miR-3650	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038119	hsa-miR-3689d	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038077	hsa-miR-3929	CLIP-seq
MIRT2240456	hsa-miR-4282	CLIP-seq
MIRT1038078	hsa-miR-4419b	CLIP-seq
MIRT2240457	hsa-miR-4434	CLIP-seq
MIRT1038079	hsa-miR-4478	CLIP-seq
MIRT1038080	hsa-miR-449c	CLIP-seq
MIRT2240458	hsa-miR-4516	CLIP-seq
MIRT2240459	hsa-miR-4521	CLIP-seq
MIRT2240460	hsa-miR-4534	CLIP-seq
MIRT1038081	hsa-miR-4539	CLIP-seq
MIRT1038082	hsa-miR-4649-3p	CLIP-seq
MIRT1038083	hsa-miR-4679	CLIP-seq
MIRT1038084	hsa-miR-4680-5p	CLIP-seq
MIRT1038085	hsa-miR-4701-3p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038087	hsa-miR-4724-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038135	hsa-miR-4733-5p	CLIP-seq
MIRT1038137	hsa-miR-4758-3p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT2240461	hsa-miR-4802-5p	CLIP-seq
MIRT1038090	hsa-miR-485-5p	CLIP-seq
MIRT2240462	hsa-miR-488	CLIP-seq
MIRT2240463	hsa-miR-505	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT2240464	hsa-miR-513a-3p	CLIP-seq
MIRT2240465	hsa-miR-518e	CLIP-seq
MIRT1038092	hsa-miR-542-3p	CLIP-seq
MIRT1038093	hsa-miR-544b	CLIP-seq
MIRT2240466	hsa-miR-549	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT2007756	hsa-miR-876-3p	CLIP-seq
MIRT1038096	hsa-miR-888	CLIP-seq
MIRT2007757	hsa-miR-933	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq
MIRT1038108	hsa-miR-3120-5p	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT1038115	hsa-miR-3613-3p	CLIP-seq
MIRT1038118	hsa-miR-3664-5p	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038120	hsa-miR-371-5p	CLIP-seq
MIRT1038121	hsa-miR-371b-5p	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038126	hsa-miR-4293	CLIP-seq
MIRT1038129	hsa-miR-4522	CLIP-seq
MIRT1038083	hsa-miR-4679	CLIP-seq
MIRT1038130	hsa-miR-4684-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038143	hsa-miR-548c-3p	CLIP-seq
MIRT1038144	hsa-miR-593	CLIP-seq
MIRT1038145	hsa-miR-596	CLIP-seq
MIRT2007750	hsa-miR-1285	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038108	hsa-miR-3120-5p	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT2007751	hsa-miR-3187-5p	CLIP-seq
MIRT1038112	hsa-miR-3189-5p	CLIP-seq
MIRT1038114	hsa-miR-338-3p	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038115	hsa-miR-3613-3p	CLIP-seq
MIRT1038116	hsa-miR-3614-5p	CLIP-seq
MIRT1038118	hsa-miR-3664-5p	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038119	hsa-miR-3689d	CLIP-seq
MIRT1038120	hsa-miR-371-5p	CLIP-seq
MIRT1038121	hsa-miR-371b-5p	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038126	hsa-miR-4293	CLIP-seq
MIRT1038129	hsa-miR-4522	CLIP-seq
MIRT1038083	hsa-miR-4679	CLIP-seq
MIRT1038130	hsa-miR-4684-5p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038137	hsa-miR-4758-3p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT2007754	hsa-miR-4793-3p	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT1038143	hsa-miR-548c-3p	CLIP-seq
MIRT1038144	hsa-miR-593	CLIP-seq
MIRT1038145	hsa-miR-596	CLIP-seq
MIRT2007755	hsa-miR-612	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq
MIRT2007750	hsa-miR-1285	CLIP-seq
MIRT1038068	hsa-miR-1827	CLIP-seq
MIRT1038108	hsa-miR-3120-5p	CLIP-seq
MIRT1038071	hsa-miR-3122	CLIP-seq
MIRT2007751	hsa-miR-3187-5p	CLIP-seq
MIRT1038112	hsa-miR-3189-5p	CLIP-seq
MIRT1038114	hsa-miR-338-3p	CLIP-seq
MIRT1038073	hsa-miR-34b	CLIP-seq
MIRT1038115	hsa-miR-3613-3p	CLIP-seq
MIRT1038116	hsa-miR-3614-5p	CLIP-seq
MIRT1038118	hsa-miR-3664-5p	CLIP-seq
MIRT1038074	hsa-miR-3689a-3p	CLIP-seq
MIRT1038075	hsa-miR-3689c	CLIP-seq
MIRT1038119	hsa-miR-3689d	CLIP-seq
MIRT1038120	hsa-miR-371-5p	CLIP-seq
MIRT1038121	hsa-miR-371b-5p	CLIP-seq
MIRT1038076	hsa-miR-3913-5p	CLIP-seq
MIRT1038126	hsa-miR-4293	CLIP-seq
MIRT1038129	hsa-miR-4522	CLIP-seq
MIRT1038083	hsa-miR-4679	CLIP-seq
MIRT1038130	hsa-miR-4684-5p	CLIP-seq
MIRT1038086	hsa-miR-4722-5p	CLIP-seq
MIRT1038088	hsa-miR-4728-5p	CLIP-seq
MIRT1038137	hsa-miR-4758-3p	CLIP-seq
MIRT1038089	hsa-miR-4768-3p	CLIP-seq
MIRT2007754	hsa-miR-4793-3p	CLIP-seq
MIRT1038091	hsa-miR-508-5p	CLIP-seq
MIRT1038143	hsa-miR-548c-3p	CLIP-seq
MIRT1038144	hsa-miR-593	CLIP-seq
MIRT1038145	hsa-miR-596	CLIP-seq
MIRT2007755	hsa-miR-612	CLIP-seq
MIRT1038094	hsa-miR-661	CLIP-seq
MIRT1038095	hsa-miR-766	CLIP-seq
MIRT1038097	hsa-miR-940	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002098	Process	TRNA wobble uridine modification	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	29390138, 33619562
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	33619562
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	33619562
GO:0005739	Component	Mitochondrion	IEA
GO:0006400	Process	TRNA modification	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030488	Process	TRNA methylation	IBA
GO:0070899	Process	Mitochondrial tRNA wobble uridine modification	IMP	29390138
GO:0160236	Function	TRNA 5-taurinomethyluridine synthase activity	IMP	29390138
GO:1990234	Component	Transferase complex	IPI	29390138

MIM	HGNC	e!Ensembl
608536	14880	ENSG00000130299

Q969Y2

Protein name

5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial (EC 3.6.1.-) (GTP-binding protein 3) (Mitochondrial GTP-binding protein 1) (tRNA modification GTPase GTPBP3, mitochondrial)

Protein function

GTPase component of the GTPBP3-MTO1 complex that catalyzes the 5-taurinomethyluridine (taum(5)U) modification at the 34th wobble position (U34) of mitochondrial tRNAs (mt-tRNAs), which plays a role in mt-tRNA decoding and mitochondrial translati

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10396	TrmE_N	35 → 152	GTP-binding protein TrmE N-terminus	Family
PF12631	MnmE_helical	155 → 489	MnmE helical domain	Family
PF01926	MMR_HSR1	251 → 375	50S ribosome-binding GTPase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12370316}.

Sequence

MWRGLWTLAAQAARGPRRLCTRRSSGAPAPGSGATIFALSSGQGRCGIAVIRTSGPASGH
ALRILTAPRDLPLARHASLRLLSDPRSGEPLDRALVLWFPGPQSFTGEDCVEFHVHGGPA
VVSGVLQALGSVPGLRPAEAGEFTRRAFANGKLNLTEVEGLADLIHAETEAQRRQALRQL
DGELGHLCRGWAETLTKALAHVEAYIDFGEDDNLEEGVLEQADIEVRALQVALGAHLRDA
RRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSIVSPEPGTTRDVLETPVDLAGFPVL
LSDTAGLREGVGPVEQEGVRRARERLEQADLILAMLDASDLASPSSCNFLATVVASVGAQ
SPSDSSQRLLLVLNKSDLLSPEGPGPGPDLPPHLLLSCLTGEGLDGLLEALRKELAAVCG
DPSTDPPLLTRARHQHHLQGCLDALGHYKQSKDLALAAEALRVARGHLTRLTGGGGTEEI
LDIIFQDFCVGK

Sequence length

492

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 23	Likely pathogenic; Pathogenic	rs765975578, rs766510741, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs1419691572, rs2513207346, rs1274363168, rs1555726849, rs770871640, rs1599560256	RCV001783405 RCV002272674 RCV000157590 RCV000157591 RCV000157592 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GTPBP3-related disorder	Likely pathogenic; Pathogenic	rs765975578, rs2145702302	RCV004757478 RCV004757874	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL A BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGG-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

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	25434004, 26642043, 29348686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25434004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	25434004, 26642043, 29348686, 39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 23	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	25434004, 26741492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	25434004		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	25434004		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	28732077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12370316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25434004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28732077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25434004, 30916346		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	25434004, 30916346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25434004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	25434004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25434004, 28740091, 39719609	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35985767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	39719609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24325915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GTPBP3 (GTP binding protein 3, mitochondrial)