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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	1738
Gene name	Dihydrolipoamide dehydrogenase
Gene symbol	DLD
Synonyms (NCBI Gene)	DLDDDLDHE3GCSLLADOGDC-E3PHE3
Chromosome	7
Chromosome location	7q31.1
Summary	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs111257462	G>A,C	Likely-pathogenic	Splice donor variant
rs121964987	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121964988	C>T	Pathogenic	Missense variant, coding sequence variant
rs121964989	A>G	Pathogenic	Missense variant, coding sequence variant
rs121964990	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs121964991	T>C	Pathogenic	Missense variant, coding sequence variant
rs121964992	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121964993	A>G	Pathogenic	Missense variant, coding sequence variant
rs148873419	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514649	A>T	Pathogenic	Missense variant, coding sequence variant
rs397514650	A>G	Pathogenic	Missense variant, coding sequence variant
rs397514651	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs533405046	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs747810875	C>G,T	Likely-pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, stop gained, synonymous variant
rs753234219	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs763303046	A>G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs764611160	AG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs764704217	T>-,TT	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs777884525	TCAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780025714	G>T	Likely-pathogenic	Splice donor variant
rs796051947	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs796051948	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1040811473	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516698	C>T	Uncertain-significance, likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1057517214	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1328820332	G>A	Likely-pathogenic	Splice donor variant
rs1554396895	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1554396908	G>T	Likely-pathogenic	Splice donor variant
rs1554398193	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554398264	G>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554398461	A>G	Likely-pathogenic	Splice acceptor variant
rs1554398624	AG>T	Likely-pathogenic	Splice acceptor variant
rs1554398625	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400179	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400483	G>T	Likely-pathogenic	Splice donor variant
rs1554400699	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400704	TGTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554400713	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562908173	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained

327

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miRTarBase ID	miRNA	Experiments	Reference
MIRT031565	hsa-miR-16-5p	Proteomics	18668040
MIRT048620	hsa-miR-99a-5p	CLASH	23622248
MIRT756164	hsa-miR-653-5p	Luciferase reporter assayWestern blottingqRT-PCR	37334893
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937935	hsa-miR-1256	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937937	hsa-miR-1298	CLIP-seq
MIRT937938	hsa-miR-130a	CLIP-seq
MIRT937939	hsa-miR-130b	CLIP-seq
MIRT937940	hsa-miR-134	CLIP-seq
MIRT937941	hsa-miR-149	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937943	hsa-miR-1915	CLIP-seq
MIRT937944	hsa-miR-1976	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT937948	hsa-miR-219-1-3p	CLIP-seq
MIRT937949	hsa-miR-221	CLIP-seq
MIRT937950	hsa-miR-222	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937955	hsa-miR-24	CLIP-seq
MIRT937956	hsa-miR-301a	CLIP-seq
MIRT937957	hsa-miR-301b	CLIP-seq
MIRT937958	hsa-miR-3118	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937961	hsa-miR-3136-5p	CLIP-seq
MIRT937962	hsa-miR-3154	CLIP-seq
MIRT937963	hsa-miR-3157-5p	CLIP-seq
MIRT937964	hsa-miR-3164	CLIP-seq
MIRT937965	hsa-miR-3167	CLIP-seq
MIRT937966	hsa-miR-3179	CLIP-seq
MIRT937967	hsa-miR-338-5p	CLIP-seq
MIRT937968	hsa-miR-3591-3p	CLIP-seq
MIRT937969	hsa-miR-3609	CLIP-seq
MIRT937970	hsa-miR-3612	CLIP-seq
MIRT937971	hsa-miR-3617	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937973	hsa-miR-3666	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT937975	hsa-miR-370	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT937977	hsa-miR-3911	CLIP-seq
MIRT937978	hsa-miR-3941	CLIP-seq
MIRT937979	hsa-miR-3942-3p	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT937981	hsa-miR-4284	CLIP-seq
MIRT937982	hsa-miR-4286	CLIP-seq
MIRT937983	hsa-miR-4295	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT937985	hsa-miR-4439	CLIP-seq
MIRT937986	hsa-miR-4473	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT937988	hsa-miR-4501	CLIP-seq
MIRT937989	hsa-miR-4513	CLIP-seq
MIRT937990	hsa-miR-454	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT937993	hsa-miR-4643	CLIP-seq
MIRT937994	hsa-miR-4653-3p	CLIP-seq
MIRT937995	hsa-miR-4655-5p	CLIP-seq
MIRT937996	hsa-miR-466	CLIP-seq
MIRT937997	hsa-miR-4667-3p	CLIP-seq
MIRT937998	hsa-miR-4671-3p	CLIP-seq
MIRT937999	hsa-miR-4672	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT938002	hsa-miR-4691-3p	CLIP-seq
MIRT938003	hsa-miR-4694-5p	CLIP-seq
MIRT938004	hsa-miR-4695-5p	CLIP-seq
MIRT938005	hsa-miR-4717-3p	CLIP-seq
MIRT938006	hsa-miR-4726-3p	CLIP-seq
MIRT938007	hsa-miR-4771	CLIP-seq
MIRT938008	hsa-miR-4789-3p	CLIP-seq
MIRT938009	hsa-miR-4797-5p	CLIP-seq
MIRT938010	hsa-miR-486-3p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT938012	hsa-miR-499a-5p	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938015	hsa-miR-548ah	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT938017	hsa-miR-548v	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938020	hsa-miR-574-5p	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938024	hsa-miR-617	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938026	hsa-miR-641	CLIP-seq
MIRT938027	hsa-miR-650	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT938030	hsa-miR-665	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT938033	hsa-miR-876-5p	CLIP-seq
MIRT938034	hsa-miR-892b	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937935	hsa-miR-1256	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937940	hsa-miR-134	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT1977586	hsa-miR-2467-3p	CLIP-seq
MIRT937958	hsa-miR-3118	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937964	hsa-miR-3164	CLIP-seq
MIRT1977587	hsa-miR-3200-5p	CLIP-seq
MIRT1977588	hsa-miR-323b-3p	CLIP-seq
MIRT937967	hsa-miR-338-5p	CLIP-seq
MIRT1977589	hsa-miR-3647-3p	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT1977590	hsa-miR-3678-3p	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT1977591	hsa-miR-3973	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT1977592	hsa-miR-4277	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT1977593	hsa-miR-433	CLIP-seq
MIRT1977594	hsa-miR-4427	CLIP-seq
MIRT1977595	hsa-miR-4470	CLIP-seq
MIRT937988	hsa-miR-4501	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT1977597	hsa-miR-4680-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT1977598	hsa-miR-4775	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT1977600	hsa-miR-499-3p	CLIP-seq
MIRT1977601	hsa-miR-499a-3p	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT1977602	hsa-miR-562	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938024	hsa-miR-617	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT2212860	hsa-miR-1225-5p	CLIP-seq
MIRT2212861	hsa-miR-125a-5p	CLIP-seq
MIRT2212862	hsa-miR-125b	CLIP-seq
MIRT2212863	hsa-miR-1273d	CLIP-seq
MIRT937937	hsa-miR-1298	CLIP-seq
MIRT2212864	hsa-miR-190	CLIP-seq
MIRT2212865	hsa-miR-190b	CLIP-seq
MIRT937945	hsa-miR-2054	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT2212866	hsa-miR-208a	CLIP-seq
MIRT2212867	hsa-miR-208b	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937951	hsa-miR-2355-5p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937959	hsa-miR-3121-3p	CLIP-seq
MIRT2212868	hsa-miR-3166	CLIP-seq
MIRT937965	hsa-miR-3167	CLIP-seq
MIRT1977587	hsa-miR-3200-5p	CLIP-seq
MIRT2212869	hsa-miR-3201	CLIP-seq
MIRT2212870	hsa-miR-3646	CLIP-seq
MIRT937972	hsa-miR-365	CLIP-seq
MIRT937974	hsa-miR-3671	CLIP-seq
MIRT1977590	hsa-miR-3678-3p	CLIP-seq
MIRT937976	hsa-miR-374c	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2212871	hsa-miR-410	CLIP-seq
MIRT1977592	hsa-miR-4277	CLIP-seq
MIRT937982	hsa-miR-4286	CLIP-seq
MIRT2212872	hsa-miR-4319	CLIP-seq
MIRT1977593	hsa-miR-433	CLIP-seq
MIRT2212873	hsa-miR-4446-5p	CLIP-seq
MIRT2212874	hsa-miR-4475	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT937995	hsa-miR-4655-5p	CLIP-seq
MIRT938005	hsa-miR-4717-3p	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2212876	hsa-miR-4732-3p	CLIP-seq
MIRT2212877	hsa-miR-4755-5p	CLIP-seq
MIRT938007	hsa-miR-4771	CLIP-seq
MIRT1977598	hsa-miR-4775	CLIP-seq
MIRT2212878	hsa-miR-4781-3p	CLIP-seq
MIRT2212879	hsa-miR-4791	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT1977600	hsa-miR-499-3p	CLIP-seq
MIRT2212880	hsa-miR-499-5p	CLIP-seq
MIRT1977601	hsa-miR-499a-3p	CLIP-seq
MIRT2212881	hsa-miR-555	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT938022	hsa-miR-607	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938028	hsa-miR-655	CLIP-seq
MIRT938029	hsa-miR-662	CLIP-seq
MIRT2212883	hsa-miR-670	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT938033	hsa-miR-876-5p	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT2516786	hsa-miR-132	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT2516787	hsa-miR-212	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT2516788	hsa-miR-361-5p	CLIP-seq
MIRT2516789	hsa-miR-3686	CLIP-seq
MIRT2516790	hsa-miR-380	CLIP-seq
MIRT2516791	hsa-miR-3919	CLIP-seq
MIRT2516792	hsa-miR-3924	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2516793	hsa-miR-4272	CLIP-seq
MIRT2516794	hsa-miR-4282	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT2516795	hsa-miR-4652-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2516796	hsa-miR-4742-3p	CLIP-seq
MIRT2516797	hsa-miR-4756-3p	CLIP-seq
MIRT2516798	hsa-miR-4760-3p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT2516799	hsa-miR-587	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT2516800	hsa-miR-766	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq
MIRT937933	hsa-miR-1	CLIP-seq
MIRT937934	hsa-miR-1208	CLIP-seq
MIRT937936	hsa-miR-1283	CLIP-seq
MIRT937942	hsa-miR-1910	CLIP-seq
MIRT937946	hsa-miR-206	CLIP-seq
MIRT937947	hsa-miR-218	CLIP-seq
MIRT1977585	hsa-miR-2355-3p	CLIP-seq
MIRT937952	hsa-miR-23a	CLIP-seq
MIRT937953	hsa-miR-23b	CLIP-seq
MIRT937954	hsa-miR-23c	CLIP-seq
MIRT937960	hsa-miR-3127-5p	CLIP-seq
MIRT937963	hsa-miR-3157-5p	CLIP-seq
MIRT2516788	hsa-miR-361-5p	CLIP-seq
MIRT937971	hsa-miR-3617	CLIP-seq
MIRT2516789	hsa-miR-3686	CLIP-seq
MIRT2516790	hsa-miR-380	CLIP-seq
MIRT937977	hsa-miR-3911	CLIP-seq
MIRT2516791	hsa-miR-3919	CLIP-seq
MIRT2516792	hsa-miR-3924	CLIP-seq
MIRT937980	hsa-miR-3977	CLIP-seq
MIRT2516793	hsa-miR-4272	CLIP-seq
MIRT2516794	hsa-miR-4282	CLIP-seq
MIRT937984	hsa-miR-432	CLIP-seq
MIRT937987	hsa-miR-4480	CLIP-seq
MIRT2386925	hsa-miR-4495	CLIP-seq
MIRT937991	hsa-miR-455-3p	CLIP-seq
MIRT937992	hsa-miR-4633-3p	CLIP-seq
MIRT1977596	hsa-miR-4646-3p	CLIP-seq
MIRT2516795	hsa-miR-4652-3p	CLIP-seq
MIRT937994	hsa-miR-4653-3p	CLIP-seq
MIRT938000	hsa-miR-4677-3p	CLIP-seq
MIRT938001	hsa-miR-4688	CLIP-seq
MIRT938002	hsa-miR-4691-3p	CLIP-seq
MIRT938003	hsa-miR-4694-5p	CLIP-seq
MIRT2679290	hsa-miR-4715-3p	CLIP-seq
MIRT2212875	hsa-miR-4724-3p	CLIP-seq
MIRT2516796	hsa-miR-4742-3p	CLIP-seq
MIRT2516797	hsa-miR-4756-3p	CLIP-seq
MIRT2516798	hsa-miR-4760-3p	CLIP-seq
MIRT938009	hsa-miR-4797-5p	CLIP-seq
MIRT938011	hsa-miR-494	CLIP-seq
MIRT1977599	hsa-miR-496	CLIP-seq
MIRT938013	hsa-miR-513a-3p	CLIP-seq
MIRT938014	hsa-miR-548aa	CLIP-seq
MIRT938016	hsa-miR-548c-3p	CLIP-seq
MIRT2212882	hsa-miR-561	CLIP-seq
MIRT938018	hsa-miR-570	CLIP-seq
MIRT938019	hsa-miR-571	CLIP-seq
MIRT938020	hsa-miR-574-5p	CLIP-seq
MIRT938021	hsa-miR-580	CLIP-seq
MIRT2516799	hsa-miR-587	CLIP-seq
MIRT938023	hsa-miR-613	CLIP-seq
MIRT938025	hsa-miR-636	CLIP-seq
MIRT938026	hsa-miR-641	CLIP-seq
MIRT938031	hsa-miR-759	CLIP-seq
MIRT2516800	hsa-miR-766	CLIP-seq
MIRT938032	hsa-miR-873	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004148	Function	Dihydrolipoyl dehydrogenase (NADH) activity	IBA
GO:0004148	Function	Dihydrolipoyl dehydrogenase (NADH) activity	IDA	9242632, 16442803
GO:0004148	Function	Dihydrolipoyl dehydrogenase (NADH) activity	IEA
GO:0004148	Function	Dihydrolipoyl dehydrogenase (NADH) activity	IMP	15712224
GO:0004148	Function	Dihydrolipoyl dehydrogenase (NADH) activity	TAS	8506365
GO:0005515	Function	Protein binding	IPI	16263718, 16442803, 28514442, 29128334, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	29211711
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	29211711
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005739	Component	Mitochondrion	TAS	3278312
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	3593587
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005929	Component	Cilium	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IC	9242632
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	ISS
GO:0006090	Process	Pyruvate metabolic process	IBA
GO:0006103	Process	2-oxoglutarate metabolic process	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	IDA	3593587
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016668	Function	Oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043159	Component	Acrosomal matrix	IEA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IBA
GO:0045252	Component	Oxoglutarate dehydrogenase complex	IDA	29211711
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	9242632
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0048240	Process	Sperm capacitation	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0120551	Process	2-oxoglutarate decarboxylation to succinyl-CoA	IMP	15712224
GO:0120552	Process	Branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA	IDA	3593587
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IDA	3593587
GO:0160157	Component	Branched-chain alpha-ketoacid dehydrogenase complex	IPI	3593587
GO:0160167	Component	Oxoadipate dehydrogenase complex	IDA	29191460
GO:1902493	Component	Acetyltransferase complex	IEA

MIM	HGNC	e!Ensembl
238331	2898	ENSG00000091140

P09622

Protein name

Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8.1.4) (Dihydrolipoamide dehydrogenase) (Glycine cleavage system L protein)

Protein function

Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712

PDB

1ZMC , 1ZMD , 1ZY8 , 2F5Z , 3RNM , 5J5Z , 5NHG , 6HG8 , 6I4P , 6I4Q , 6I4R , 6I4S , 6I4T , 6I4U , 6I4Z , 7PSC , 7ZYT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07992	Pyr_redox_2	42 → 370	Pyridine nucleotide-disulphide oxidoreductase	Domain
PF02852	Pyr_redox_dim	389 → 498	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain	Domain

Sequence

MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
AQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNL
DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
AEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGP
MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHPTLSEAFREANLAASFGKSINF

Sequence length

509

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLD-related disorder	Pathogenic; Likely pathogenic	rs121964990, rs121964992	RCV004528103 RCV004528104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lactic acidosis	Likely pathogenic; Pathogenic	rs397514649	RCV005241235	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyruvate dehydrogenase E3 deficiency	Pathogenic; Likely pathogenic	rs757087726, rs2116277809, rs2116273912, rs2116206966, rs2116219533, rs1562919685, rs2116271469, rs1328820332, rs2116221384, rs778122189, rs2535601005, rs2535598841, rs2535598734, rs2535602325, rs952647277 View all (90 more)	RCV001382949 RCV001384807 RCV001924175 RCV001991221 RCV001941805 View all (107 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs121964990	RCV005887468	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maple syrup urine disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyruvate dehydrogenase complex deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	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; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DLD (dihydrolipoamide dehydrogenase)