DLD (dihydrolipoamide dehydrogenase)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1738
• Gene name: Dihydrolipoamide dehydrogenase
• Gene symbol: DLD
• Synonyms (NCBI Gene): DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
• 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

SNPs Show/Hide all (39)

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

miRNA Show/Hide all (327)

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 assay, Western blotting, qRT-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

Gene ontology (GO) 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

Other IDs

• MIM: 238331
• HGNC: 2898
• e!Ensembl: ENSG00000091140

Protein

• UniProt ID: 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
  PF02852	Pyr_redox_dim	389 → 498	Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain	Domain
  PF07992	Pyr_redox_2	42 → 370	Pyridine nucleotide-disulphide oxidoreductase	Domain

• Sequence:

  MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKA
  AQLGFKTVCIEKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNL
  DKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNIL
  IATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
  AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGK
  AEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGP
  MLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK
  FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
  ARVCHAHPTLSEAFREANLAASFGKSINF

• Sequence length: 509

Pathways

KEGG Pathway	Reactome Pathway
Glycolysis / Gluconeogenesis	Regulation of pyruvate dehydrogenase (PDH) complex
Citrate cycle (TCA cycle)	Glyoxylate metabolism and glycine degradation
Glycine, serine and threonine metabolism	Signaling by Retinoic Acid
Valine, leucine and isoleucine degradation	Glycine degradation
Lysine degradation	Pyruvate metabolism
Tryptophan metabolism	Branched-chain amino acid catabolism
Pyruvate metabolism	Lysine catabolism
Glyoxylate and dicarboxylate metabolism	Citric acid cycle (TCA cycle)
Propanoate metabolism
One carbon pool by folate
Lipoic acid metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of cofactors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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, rs2535603950, rs2535557716, rs2535579237, rs2535578384, rs2535602632, rs2535575866, rs1460356604, rs2535581669, rs2535579087, rs2535560836, rs2535602793, rs2535601324, rs2535602349, rs2535602518, rs2535575989, rs2535606416, rs2535602432, rs2535579088, rs2535575834, rs121964987, rs121964988, rs121964990, rs121964989, rs121964991, rs121964992, rs121964993, rs764704217, rs1267571380, rs2535573567, rs2535602182, rs2535598927, rs781776246, rs2535602789, rs2535602750, rs2535602262, rs2535598520, rs1584462024, rs2535601415, rs2535602646, rs1040811473, rs2535598793, rs2535561027, rs2535579623, rs2535601329, rs1444821472, rs2535598922, rs2031982524, rs1554398193, rs2535557666, rs1361667907, rs747810875, rs2535578376, rs2535575984, rs925493461, rs2535602178, rs111257462, rs753234219, rs1057516698, rs1057517214, rs777884525, rs764611160, rs397514649, rs397514650, rs1554398264, rs1554400713, rs1554396908, rs1554400699, rs1554400704, rs1554400720, rs1554398624, rs1554396895, rs1554398461, rs1554398625, rs1554400179, rs1554400483, rs1562908173, rs780025714, rs748682601, rs1402761530, rs1214130226, rs751883130, rs2031929480, rs2032004082, rs2031930307, rs2032247686, rs2032249629, rs2032281944, rs2032282970, rs2032293119, rs2032293586	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs121964990	RCV005887468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (33)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	38616254	★★☆☆☆ 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	34594039, 34651315, 37965154, 39789286	★★☆☆☆ 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	38749303	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	26192919, 26974007, 28067908, 33608531, 37156999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY	—	Disgenet	9540846,10448086,8968745,16442803,16770810,12925875,20160912,17404228,9934985,15712224,8506365,11687750	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	34651315	★★☆☆☆ 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	26192919, 28067908, 33608531, 37156999, 37965154, 38616254, 39792054	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, GWAS catalog	11687750, 12925875, 16770810, 21930696, 23290025, 25613900, 27144126, 8506365, 8968745, 9405644	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34586374	★★☆☆☆ 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	24376627	★★☆☆☆ 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	26974007	★★☆☆☆ 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	26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	19122664, 19915572, 19915573, 20228799, 21297633, 23128233, 26192919, 26974007, 28067908, 33608531, 34594039, 37156999	★★☆☆☆ 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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PTTG1IP 2 shared diseasesCholecystolithiasis, Gallstones 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. LIAS 3 shared diseasesCholecystolithiasis, Gallstones, Leigh syndrome 3 shared pathwaysLipoic acid metabolism, Biosynthesis of cofactors, Glyoxylate metabolism and glycine degradation 3 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones), ClinGen (Leigh syndrome) Related via 3 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. ATG16L2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. DDX17 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. FRAT2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PTTG1IP	2	["Cholecystolithiasis","Gallstones"]	0	[]	3	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
LIAS	3	["Cholecystolithiasis","Gallstones","Leigh syndrome"]	3	["Lipoic acid metabolism","Biosynthesis of cofactors","Glyoxylate metabolism and glycine degradation"]	3	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)","ClinGen (Leigh syndrome)"]
ATG16L2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
DDX17	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
FRAT2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 2 of 5 related genesLIAS, FRAT2 Bladder exstrophy Linked via 1 of 5 related genesLIAS Hemorrhoid Linked via 1 of 5 related genesLIAS Hyperglycemia Linked via 1 of 5 related genesLIAS Pulmonary fibrosis Linked via 1 of 5 related genesLIAS

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	2	["LIAS","FRAT2"]
Bladder exstrophy	1	["LIAS"]
Hemorrhoid	1	["LIAS"]
Hyperglycemia	1	["LIAS"]
Pulmonary fibrosis	1	["LIAS"]