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

782

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLD-related disorder	Pathogenic; Likely pathogenic	rs121964990, rs121964992	RCV004528103 RCV004528104
Lactic acidosis	Likely pathogenic; Pathogenic	rs397514649	RCV005241235
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 RCV001872259 RCV002032886 RCV002046711 RCV001887607 RCV001896395 RCV002309761 RCV002310005 RCV002308005 RCV002308011 RCV002309115 RCV002306823 RCV002307113 RCV002310124 RCV002310208 RCV002308464 RCV002716313 RCV002846839 RCV002835088 RCV002856413 RCV002866801 RCV002871759 RCV002863441 RCV002923317 RCV002962102 RCV003003195 RCV003026423 RCV003027178 RCV003144635 RCV003226627 RCV000012742 RCV000012743 RCV000012744 RCV000012746 RCV000012747 RCV000012749 RCV000012751 RCV000012752 RCV003466192 RCV003459972 RCV003466193 RCV003466195 RCV003466196 RCV003459973 RCV003466197 RCV003466198 RCV003466199 RCV003459975 RCV003466200 RCV003466201 RCV003466202 RCV003466203 RCV003466204 RCV003475585 RCV003512969 RCV003513184 RCV003513452 RCV003511553 RCV003511822 RCV003511764 RCV003624740 RCV003625711 RCV003626079 RCV003624300 RCV003625005 RCV003836329 RCV004576127 RCV004575824 RCV004575825 RCV000411628 RCV000410571 RCV000409901 RCV000411685 RCV000410633 RCV000411898 RCV000411445 RCV000984255 RCV000984256 RCV000033216 RCV000033217 RCV000672274 RCV000667967 RCV000666030 RCV000673830 RCV000671440 RCV000670137 RCV000674332 RCV000666189 RCV000668459 RCV000672166 RCV000664881 RCV000674045 RCV000668468 RCV000693958 RCV000984992 RCV001059731 RCV001061776 RCV001042237 RCV001233616 RCV001245168 RCV001243773 RCV001263933 RCV001263934 RCV001263935 RCV001263936 RCV001263937 RCV001264097 RCV001264098
See cases	Likely pathogenic; Pathogenic	rs121964992	RCV002251899
Thyroid cancer, nonmedullary, 1	Pathogenic	rs121964990	RCV005887468

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs80111449, rs2701026	RCV005890736 RCV005890747
Cervical cancer	Likely benign; Benign	rs17154585, rs80111449	RCV005916012 RCV005890739
Cholangiocarcinoma	Likely benign	rs17154585	RCV005916014
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs80111449	RCV005890746
Gastric cancer	Benign; -	rs80111449, rs1554400483	RCV005890742 RCV005930101
Hepatocellular carcinoma	Benign	rs80111449	RCV005890737
Leigh syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2228664, rs10263341, rs61749952, rs75123588, rs80111449, rs1065762, rs1803921, rs34453495, rs8721, rs75077312, rs138002793, rs533405046, rs145670503, rs886061906, rs886061907 View all (56 more)	RCV000344385 RCV000355848 RCV000261104 RCV000345292 RCV000341290 RCV001161964 RCV000270612 RCV001159069 RCV000279168 RCV000269642 RCV000281549 RCV000408335 RCV001161965 RCV000304750 RCV000274169 RCV000393003 RCV000332301 RCV000345560 RCV000339878 RCV000370203 RCV000329448 RCV000380454 RCV000366005 RCV000371459 RCV000386565 RCV000329949 RCV000282664 RCV000313165 RCV000318777 RCV000360355 RCV000359139 RCV000328083 RCV000338714 RCV000270720 RCV000282155 RCV000352477 RCV000266066 RCV000313980 RCV000358247 RCV000348657 RCV000367380 RCV000286136 RCV000307241 RCV000278861 RCV000353302 RCV001160216 RCV001163901 RCV001163783 RCV001163573 RCV001160119 RCV001163467 RCV001160214 RCV001163903 RCV001163988 RCV001159164 RCV001159168 RCV001160519 RCV001160523 RCV001164167 RCV001159268 RCV001159270 RCV001160630 RCV001162242 RCV001162245 RCV001164271 RCV001159362 RCV001159365 RCV001160728 RCV001162343 RCV001164386 RCV001164390 RCV001160821
Malignant tumor of esophagus	Benign; Uncertain significance	rs80111449, rs564567833	RCV005890738 RCV005937442
Maple syrup urine disease	Conflicting classifications of pathogenicity; Uncertain significance	rs886061906, rs760145994	RCV000359444 RCV000374539
Melanoma	Benign	rs17154615	RCV005899168
Nonpapillary renal cell carcinoma	Benign	rs8721, rs17154615	RCV005890748 RCV005899166
Ovarian cancer	Benign	rs80111449	RCV005890740
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs80111449, rs766014238	RCV005890743 RCV005934852
Pyruvate dehydrogenase complex deficiency	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2228664, rs10263341, rs61749952, rs75123588, rs80111449, rs1065762, rs1803921, rs34453495, rs8721, rs75077312, rs138002793, rs533405046, rs145670503, rs886061906, rs886061907 View all (56 more)	RCV000393062 RCV000264516 RCV000388010 RCV000290221 RCV000286283 RCV001161963 RCV000383620 RCV001159068 RCV000350587 RCV000324743 RCV000317845 RCV000298315 RCV001161966 RCV000393088 RCV000329018 RCV000290158 RCV000386065 RCV000379115 RCV000399965 RCV000276849 RCV000369006 RCV000340859 RCV000391649 RCV000350667 RCV000348029 RCV000274781 RCV000337641 RCV000392922 RCV000375475 RCV000307920 RCV000302064 RCV000384986 RCV000299103 RCV000323562 RCV000335124 RCV000398521 RCV000360727 RCV000353225 RCV000324559 RCV000296036 RCV000309229 RCV000322294 RCV000404165 RCV000388349 RCV000319444 RCV001163571 RCV001163900 RCV001163784 RCV001163572 RCV001163464 RCV001163466 RCV001160215 RCV001163902 RCV001163990 RCV001159163 RCV001159166 RCV001160521 RCV001160524 RCV001164166 RCV001164170 RCV001159269 RCV001159272 RCV001162243 RCV001164270 RCV001159358 RCV001159360 RCV001159363 RCV001160729 RCV001160731 RCV001164387 RCV001164389 RCV001160822
Sarcoma	Likely benign; Benign	rs17154585, rs10238360, rs80111449	RCV005916013 RCV005919318 RCV005890741
Thymoma	Benign	rs80111449	RCV005890744
Uterine carcinosarcoma	Benign	rs10281520	RCV005904246
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs17154585, rs80111449	RCV005916015 RCV005890745
Uveal melanoma	Benign	rs17154615	RCV005899167

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	40390331
Acidosis Lactic	Associate	40390331
Alzheimer Disease	Associate	37736681
Arthritis Rheumatoid	Associate	37547319
Breast Neoplasms	Associate	27110560, 35935587, 36312586
Carcinogenesis	Associate	38077227
Carcinoma Hepatocellular	Associate	27303803
Carcinoma Hepatocellular	Inhibit	27303803
Carcinoma Pancreatic Ductal	Associate	36826087
Carcinoma Renal Cell	Associate	36591111
Colorectal Neoplasms	Associate	38078879
COVID 19	Associate	38581529
Death	Associate	24012808
Diabetes Mellitus	Associate	37773841
Glioma	Associate	36270342, 38077227, 40355831
Heart Injuries	Associate	36988255
Hepatitis B	Associate	27303803
Hepatomegaly	Associate	40390331
Hyperglycinemia Nonketotic	Associate	29232014
Hypoglycemia	Associate	40390331
Inflammatory Bowel Diseases	Associate	37275904
Lactic Acidosis Congenital Infantile Due To LAD Deficiency	Associate	34684524, 39987041, 40390331
Leigh Disease	Associate	35792828
Liver Diseases	Associate	27303803
Liver Failure Acute	Associate	40390331
Lymphoma Large B Cell Diffuse	Associate	38581529
Maple Syrup Urine Disease	Associate	31830945
Melanoma	Associate	36431901
Metabolic Syndrome	Associate	24012808
Multiple Myeloma	Associate	40389878
Multiple System Atrophy	Associate	21930696
Myotonic Dystrophy	Associate	34462518
Nasopharyngeal Carcinoma	Associate	40083932
Nausea	Associate	40390331
Neoplasms	Associate	36591111, 38077227, 40389878
Neoplasms	Inhibit	38581529
Neural Tube Defects	Associate	29232014
Neurologic Manifestations	Associate	24012808
Parkinson Disease	Associate	26961748
Periodontitis	Associate	37215133
Polycystic Ovary Syndrome	Associate	33678329
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	16904023
Respiratory Insufficiency	Associate	21930696
Schizophrenia	Associate	29232014
Squamous Cell Carcinoma of Head and Neck	Associate	36618352
Stomach Neoplasms	Associate	26745502
Stomach Neoplasms	Stimulate	37505170
Testicular Germ Cell Tumor	Associate	38077227

DLD (dihydrolipoamide dehydrogenase)