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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	1743
Gene name	Dihydrolipoamide S-succinyltransferase
Gene symbol	DLST
Synonyms (NCBI Gene)	DLTSKGD2PGL7PPGL7
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1270341616	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant

358

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048341	hsa-miR-106a-5p	CLASH	23622248
MIRT045733	hsa-miR-125a-5p	CLASH	23622248
MIRT042860	hsa-miR-324-3p	CLASH	23622248
MIRT041111	hsa-miR-503-5p	CLASH	23622248
MIRT040701	hsa-miR-92b-3p	CLASH	23622248
MIRT039832	hsa-miR-615-3p	CLASH	23622248
MIRT037800	hsa-miR-92b-5p	CLASH	23622248
MIRT036029	hsa-miR-1301-3p	CLASH	23622248
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT938786	hsa-miR-1273e	CLIP-seq
MIRT938787	hsa-miR-128	CLIP-seq
MIRT938788	hsa-miR-1304	CLIP-seq
MIRT938789	hsa-miR-133a	CLIP-seq
MIRT938790	hsa-miR-133b	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938793	hsa-miR-1913	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT938795	hsa-miR-1915	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT938798	hsa-miR-2355-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT938800	hsa-miR-3150b-3p	CLIP-seq
MIRT938801	hsa-miR-3155	CLIP-seq
MIRT938802	hsa-miR-3155b	CLIP-seq
MIRT938803	hsa-miR-3156-3p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT938805	hsa-miR-3194-3p	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT938808	hsa-miR-33a	CLIP-seq
MIRT938809	hsa-miR-33b	CLIP-seq
MIRT938810	hsa-miR-346	CLIP-seq
MIRT938811	hsa-miR-34b	CLIP-seq
MIRT938812	hsa-miR-361-3p	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT938816	hsa-miR-3690	CLIP-seq
MIRT938817	hsa-miR-3914	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT938821	hsa-miR-3941	CLIP-seq
MIRT938822	hsa-miR-3975	CLIP-seq
MIRT938823	hsa-miR-4254	CLIP-seq
MIRT938824	hsa-miR-4281	CLIP-seq
MIRT938825	hsa-miR-4287	CLIP-seq
MIRT938826	hsa-miR-4288	CLIP-seq
MIRT938827	hsa-miR-4301	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT938831	hsa-miR-4474-5p	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT938833	hsa-miR-4521	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938837	hsa-miR-4659a-5p	CLIP-seq
MIRT938838	hsa-miR-4659b-5p	CLIP-seq
MIRT938839	hsa-miR-466	CLIP-seq
MIRT938840	hsa-miR-4662a-3p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT938842	hsa-miR-4672	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938844	hsa-miR-4685-3p	CLIP-seq
MIRT938845	hsa-miR-4686	CLIP-seq
MIRT938846	hsa-miR-4711-3p	CLIP-seq
MIRT938847	hsa-miR-4712-3p	CLIP-seq
MIRT938848	hsa-miR-4717-3p	CLIP-seq
MIRT938849	hsa-miR-4720-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT938851	hsa-miR-4768-5p	CLIP-seq
MIRT938852	hsa-miR-4769-3p	CLIP-seq
MIRT938853	hsa-miR-4775	CLIP-seq
MIRT938854	hsa-miR-4784	CLIP-seq
MIRT938855	hsa-miR-484	CLIP-seq
MIRT938856	hsa-miR-502-5p	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938858	hsa-miR-518d-5p	CLIP-seq
MIRT938859	hsa-miR-519b-5p	CLIP-seq
MIRT938860	hsa-miR-519c-5p	CLIP-seq
MIRT938861	hsa-miR-520c-5p	CLIP-seq
MIRT938862	hsa-miR-526a	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT938865	hsa-miR-607	CLIP-seq
MIRT938866	hsa-miR-622	CLIP-seq
MIRT938867	hsa-miR-632	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT938870	hsa-miR-760	CLIP-seq
MIRT938871	hsa-miR-769-5p	CLIP-seq
MIRT938872	hsa-miR-877	CLIP-seq
MIRT938873	hsa-miR-885-5p	CLIP-seq
MIRT938874	hsa-miR-938	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT1977743	hsa-miR-1205	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT1977745	hsa-miR-221	CLIP-seq
MIRT1977746	hsa-miR-222	CLIP-seq
MIRT1977747	hsa-miR-296-3p	CLIP-seq
MIRT1977748	hsa-miR-3120-3p	CLIP-seq
MIRT1977749	hsa-miR-3134	CLIP-seq
MIRT1977750	hsa-miR-3160-3p	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT1977752	hsa-miR-3936	CLIP-seq
MIRT1977753	hsa-miR-3978	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT1977756	hsa-miR-4427	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT1977761	hsa-miR-4534	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT1977762	hsa-miR-4680-3p	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT1977763	hsa-miR-545	CLIP-seq
MIRT1977764	hsa-miR-548v	CLIP-seq
MIRT1977765	hsa-miR-634	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT1977767	hsa-miR-891b	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT2213064	hsa-miR-1228	CLIP-seq
MIRT2213065	hsa-miR-1254	CLIP-seq
MIRT2213066	hsa-miR-1261	CLIP-seq
MIRT2213067	hsa-miR-1468	CLIP-seq
MIRT938795	hsa-miR-1915	CLIP-seq
MIRT2213068	hsa-miR-197	CLIP-seq
MIRT2213069	hsa-miR-1972	CLIP-seq
MIRT2213070	hsa-miR-214	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT938798	hsa-miR-2355-5p	CLIP-seq
MIRT2213071	hsa-miR-3116	CLIP-seq
MIRT2213072	hsa-miR-3127-3p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938810	hsa-miR-346	CLIP-seq
MIRT938811	hsa-miR-34b	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT2213075	hsa-miR-3619-5p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT2213076	hsa-miR-3679-3p	CLIP-seq
MIRT938817	hsa-miR-3914	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT938824	hsa-miR-4281	CLIP-seq
MIRT2213077	hsa-miR-4291	CLIP-seq
MIRT938828	hsa-miR-4328	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT2213078	hsa-miR-4637	CLIP-seq
MIRT938836	hsa-miR-4650-5p	CLIP-seq
MIRT938841	hsa-miR-4668-3p	CLIP-seq
MIRT2213079	hsa-miR-4668-5p	CLIP-seq
MIRT938843	hsa-miR-4684-5p	CLIP-seq
MIRT938848	hsa-miR-4717-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT938851	hsa-miR-4768-5p	CLIP-seq
MIRT2213080	hsa-miR-5096	CLIP-seq
MIRT2213081	hsa-miR-548p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT1977765	hsa-miR-634	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT2213082	hsa-miR-761	CLIP-seq
MIRT2213083	hsa-miR-922	CLIP-seq
MIRT938813	hsa-miR-3616-5p	CLIP-seq
MIRT938815	hsa-miR-3647-5p	CLIP-seq
MIRT938834	hsa-miR-4635	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938864	hsa-miR-573	CLIP-seq
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT938777	hsa-let-7a	CLIP-seq
MIRT938778	hsa-let-7b	CLIP-seq
MIRT938779	hsa-let-7c	CLIP-seq
MIRT938780	hsa-let-7d	CLIP-seq
MIRT938781	hsa-let-7e	CLIP-seq
MIRT938782	hsa-let-7f	CLIP-seq
MIRT938783	hsa-let-7g	CLIP-seq
MIRT938784	hsa-let-7i	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT2516909	hsa-miR-1266	CLIP-seq
MIRT2516910	hsa-miR-1293	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT2516911	hsa-miR-1470	CLIP-seq
MIRT2516912	hsa-miR-15a	CLIP-seq
MIRT2516913	hsa-miR-15b	CLIP-seq
MIRT2516914	hsa-miR-16	CLIP-seq
MIRT2516915	hsa-miR-18a	CLIP-seq
MIRT2516916	hsa-miR-18b	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT2516917	hsa-miR-195	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT2516918	hsa-miR-2467-3p	CLIP-seq
MIRT2516919	hsa-miR-3065-3p	CLIP-seq
MIRT2516920	hsa-miR-3074-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT2516921	hsa-miR-3152-5p	CLIP-seq
MIRT2516922	hsa-miR-3158-5p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT2516923	hsa-miR-330-3p	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT2516924	hsa-miR-3657	CLIP-seq
MIRT2516925	hsa-miR-3678-3p	CLIP-seq
MIRT2516926	hsa-miR-3685	CLIP-seq
MIRT938816	hsa-miR-3690	CLIP-seq
MIRT2516927	hsa-miR-377	CLIP-seq
MIRT2516928	hsa-miR-384	CLIP-seq
MIRT2516929	hsa-miR-3912	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT2516930	hsa-miR-3922-5p	CLIP-seq
MIRT938820	hsa-miR-3927	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT2516931	hsa-miR-424	CLIP-seq
MIRT938823	hsa-miR-4254	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT2516932	hsa-miR-4277	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT938830	hsa-miR-4458	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT2516933	hsa-miR-4483	CLIP-seq
MIRT938832	hsa-miR-4500	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT2516934	hsa-miR-4518	CLIP-seq
MIRT2516935	hsa-miR-455-3p	CLIP-seq
MIRT938835	hsa-miR-4650-3p	CLIP-seq
MIRT2516936	hsa-miR-4667-3p	CLIP-seq
MIRT2516937	hsa-miR-4669	CLIP-seq
MIRT2516938	hsa-miR-4691-5p	CLIP-seq
MIRT2516939	hsa-miR-4709-3p	CLIP-seq
MIRT2516940	hsa-miR-4731-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT2516941	hsa-miR-4735-3p	CLIP-seq
MIRT2516942	hsa-miR-4774-3p	CLIP-seq
MIRT2516943	hsa-miR-4801	CLIP-seq
MIRT2516944	hsa-miR-493	CLIP-seq
MIRT2516945	hsa-miR-497	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT938869	hsa-miR-7	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT2516946	hsa-miR-876-3p	CLIP-seq
MIRT938875	hsa-miR-98	CLIP-seq
MIRT938785	hsa-miR-1226	CLIP-seq
MIRT1977744	hsa-miR-1253	CLIP-seq
MIRT2516909	hsa-miR-1266	CLIP-seq
MIRT2516910	hsa-miR-1293	CLIP-seq
MIRT938791	hsa-miR-1343	CLIP-seq
MIRT2679299	hsa-miR-147	CLIP-seq
MIRT2516911	hsa-miR-1470	CLIP-seq
MIRT2516912	hsa-miR-15a	CLIP-seq
MIRT2516913	hsa-miR-15b	CLIP-seq
MIRT2516914	hsa-miR-16	CLIP-seq
MIRT2516915	hsa-miR-18a	CLIP-seq
MIRT2516916	hsa-miR-18b	CLIP-seq
MIRT938792	hsa-miR-1912	CLIP-seq
MIRT938794	hsa-miR-1914	CLIP-seq
MIRT2516917	hsa-miR-195	CLIP-seq
MIRT938796	hsa-miR-2115	CLIP-seq
MIRT938797	hsa-miR-218	CLIP-seq
MIRT2516918	hsa-miR-2467-3p	CLIP-seq
MIRT2516919	hsa-miR-3065-3p	CLIP-seq
MIRT2516920	hsa-miR-3074-5p	CLIP-seq
MIRT938799	hsa-miR-3125	CLIP-seq
MIRT2516921	hsa-miR-3152-5p	CLIP-seq
MIRT2516922	hsa-miR-3158-5p	CLIP-seq
MIRT938804	hsa-miR-3176	CLIP-seq
MIRT1977751	hsa-miR-3184	CLIP-seq
MIRT2213073	hsa-miR-3185	CLIP-seq
MIRT938806	hsa-miR-329	CLIP-seq
MIRT2516923	hsa-miR-330-3p	CLIP-seq
MIRT938807	hsa-miR-331-3p	CLIP-seq
MIRT2213074	hsa-miR-3591-3p	CLIP-seq
MIRT938814	hsa-miR-362-3p	CLIP-seq
MIRT2679300	hsa-miR-3650	CLIP-seq
MIRT2516924	hsa-miR-3657	CLIP-seq
MIRT2516925	hsa-miR-3678-3p	CLIP-seq
MIRT2516926	hsa-miR-3685	CLIP-seq
MIRT2516927	hsa-miR-377	CLIP-seq
MIRT2516928	hsa-miR-384	CLIP-seq
MIRT2679301	hsa-miR-3911	CLIP-seq
MIRT938818	hsa-miR-3916	CLIP-seq
MIRT938819	hsa-miR-3922-3p	CLIP-seq
MIRT2516930	hsa-miR-3922-5p	CLIP-seq
MIRT1977754	hsa-miR-423-5p	CLIP-seq
MIRT2516931	hsa-miR-424	CLIP-seq
MIRT1977755	hsa-miR-4270	CLIP-seq
MIRT2516932	hsa-miR-4277	CLIP-seq
MIRT1977757	hsa-miR-4434	CLIP-seq
MIRT938829	hsa-miR-4436a	CLIP-seq
MIRT1977758	hsa-miR-4441	CLIP-seq
MIRT2679302	hsa-miR-4455	CLIP-seq
MIRT1977759	hsa-miR-4463	CLIP-seq
MIRT2516933	hsa-miR-4483	CLIP-seq
MIRT1977760	hsa-miR-4516	CLIP-seq
MIRT2516934	hsa-miR-4518	CLIP-seq
MIRT2516935	hsa-miR-455-3p	CLIP-seq
MIRT2516936	hsa-miR-4667-3p	CLIP-seq
MIRT2516937	hsa-miR-4669	CLIP-seq
MIRT2516938	hsa-miR-4691-5p	CLIP-seq
MIRT2516939	hsa-miR-4709-3p	CLIP-seq
MIRT2516940	hsa-miR-4731-3p	CLIP-seq
MIRT938850	hsa-miR-4733-3p	CLIP-seq
MIRT2516941	hsa-miR-4735-3p	CLIP-seq
MIRT2516942	hsa-miR-4774-3p	CLIP-seq
MIRT2516943	hsa-miR-4801	CLIP-seq
MIRT2679303	hsa-miR-485-5p	CLIP-seq
MIRT2516944	hsa-miR-493	CLIP-seq
MIRT2516945	hsa-miR-497	CLIP-seq
MIRT938857	hsa-miR-516a-3p	CLIP-seq
MIRT938863	hsa-miR-549	CLIP-seq
MIRT938868	hsa-miR-636	CLIP-seq
MIRT2679304	hsa-miR-644	CLIP-seq
MIRT1977766	hsa-miR-711	CLIP-seq
MIRT2516946	hsa-miR-876-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	IBA
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	IEA
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	IMP	30929736
GO:0004149	Function	Dihydrolipoyllysine-residue succinyltransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	16169070, 29128334, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	29211711
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	29211711
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8009371
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IMP	30929736
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006104	Process	Succinyl-CoA metabolic process	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IMP	30929736
GO:0033512	Process	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IEA
GO:0160167	Component	Oxoadipate dehydrogenase complex	IDA	29191460

MIM	HGNC	e!Ensembl
126063	2911	ENSG00000119689

P36957

Protein name

Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (EC 2.3.1.61) (2-oxoglutarate dehydrogenase complex component E2) (OGDC-E2) (Dihydrolipoamide succinyltransferase component of 2-oxoglutarate

Protein function

Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogen

PDB

6H05

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00364	Biotin_lipoyl	71 → 143	Biotin-requiring enzyme	Domain
PF00198	2-oxoacid_dh	220 → 451	2-oxoacid dehydrogenases acyltransferase (catalytic domain)	Domain

Sequence

MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFF
RTTAVCKDDLVTVKTPAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPAN
GVIEALLVPDGGKVEGGTPLFTLRKTGAAPAKAKPAEAPAAAAPKAEPTAAAVPPPAAPI
PTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHREKMNRMRQRIAQRLKE
AQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNA
VIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELA
IEDMDGGTFTISNGGVFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVAL
TYDHRLIDGREAVTFLRKIKAAVEDPRVLLLDL

Sequence length

453

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pheochromocytoma/paraganglioma syndrome 7	Pathogenic	rs1270341616	RCV000785999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DLST-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary pheochromocytoma and paraganglioma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oxoglutaricaciduria	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30929736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	8584231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15038610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	15919721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary hemangioma of retina	Capillary Hemangioma Of Retina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30983028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve compression	Cranial nerve compression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	40149491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic paroxysmal anxiety	Episodic paroxysmal anxiety	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34143178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40355831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Injuries	Cardiac injury	Pubtator	36988255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pheochromocytoma-paraganglioma	Hereditary Pheochromocytoma-Paraganglioma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Hypertensive Retinopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30979500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40149491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15919721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30983028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38018590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29132538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30929736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36634214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10676873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36671512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	BEFREE	30979500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	30929736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37215133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30929736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	30929736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	10385636, 10441183, 12753811, 14599987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15919721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40255693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	34143178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34785772, 36634214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wernicke-Korsakoff Syndrome	Korsakoff psychosis	BEFREE	11445257		★★★★★ ★☆☆☆☆ Found in Text Mining only

DLST (dihydrolipoamide S-succinyltransferase)