PDK2 (pyruvate dehydrogenase kinase 2)

Gene

• Entrez ID: 5164
• Gene name: Pyruvate dehydrogenase kinase 2
• Gene symbol: PDK2
• Synonyms (NCBI Gene): PDHK2, PDKII
• Chromosome: 17
• Chromosome location: 17q21.33
• Summary: This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a rol

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050290	hsa-miR-25-3p	CLASH	23622248
MIRT1221741	hsa-miR-4637	CLIP-seq
MIRT1221742	hsa-miR-4672	CLIP-seq
MIRT1221743	hsa-miR-4789-5p	CLIP-seq
MIRT1221744	hsa-miR-493	CLIP-seq
MIRT1221745	hsa-miR-548a-3p	CLIP-seq
MIRT1221746	hsa-miR-548e	CLIP-seq
MIRT1221747	hsa-miR-548f	CLIP-seq
MIRT1221748	hsa-miR-1915	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT1221750	hsa-miR-361-3p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT1221752	hsa-miR-1208	CLIP-seq
MIRT1221753	hsa-miR-1231	CLIP-seq
MIRT1221754	hsa-miR-128	CLIP-seq
MIRT1221755	hsa-miR-1285	CLIP-seq
MIRT1221756	hsa-miR-2392	CLIP-seq
MIRT1221757	hsa-miR-3064-3p	CLIP-seq
MIRT1221758	hsa-miR-3126-5p	CLIP-seq
MIRT1221759	hsa-miR-3135b	CLIP-seq
MIRT1221760	hsa-miR-3187-5p	CLIP-seq
MIRT1221761	hsa-miR-3192	CLIP-seq
MIRT1221762	hsa-miR-3652	CLIP-seq
MIRT1221763	hsa-miR-3670	CLIP-seq
MIRT1221764	hsa-miR-3689a-3p	CLIP-seq
MIRT1221765	hsa-miR-3689c	CLIP-seq
MIRT1221766	hsa-miR-378g	CLIP-seq
MIRT1221767	hsa-miR-4252	CLIP-seq
MIRT1221768	hsa-miR-4269	CLIP-seq
MIRT1221769	hsa-miR-4318	CLIP-seq
MIRT1221770	hsa-miR-4430	CLIP-seq
MIRT1221771	hsa-miR-4447	CLIP-seq
MIRT1221772	hsa-miR-4455	CLIP-seq
MIRT1221773	hsa-miR-4472	CLIP-seq
MIRT1221774	hsa-miR-4486	CLIP-seq
MIRT1221775	hsa-miR-4488	CLIP-seq
MIRT1221776	hsa-miR-4492	CLIP-seq
MIRT1221777	hsa-miR-4498	CLIP-seq
MIRT1221778	hsa-miR-4505	CLIP-seq
MIRT1221779	hsa-miR-4514	CLIP-seq
MIRT1221780	hsa-miR-4633-3p	CLIP-seq
MIRT1221781	hsa-miR-4691-3p	CLIP-seq
MIRT1221782	hsa-miR-4692	CLIP-seq
MIRT1221783	hsa-miR-4693-5p	CLIP-seq
MIRT1221784	hsa-miR-4697-5p	CLIP-seq
MIRT1221785	hsa-miR-4728-5p	CLIP-seq
MIRT1221786	hsa-miR-4731-5p	CLIP-seq
MIRT1221787	hsa-miR-4742-5p	CLIP-seq
MIRT1221788	hsa-miR-597	CLIP-seq
MIRT1221789	hsa-miR-609	CLIP-seq
MIRT1221790	hsa-miR-612	CLIP-seq
MIRT1221791	hsa-miR-637	CLIP-seq
MIRT1221792	hsa-miR-645	CLIP-seq
MIRT1221793	hsa-miR-654-3p	CLIP-seq
MIRT1221794	hsa-miR-668	CLIP-seq
MIRT1221795	hsa-miR-762	CLIP-seq
MIRT1221796	hsa-miR-892a	CLIP-seq
MIRT1221797	hsa-miR-940	CLIP-seq
MIRT2063997	hsa-miR-24	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT2063998	hsa-miR-3164	CLIP-seq
MIRT1221761	hsa-miR-3192	CLIP-seq
MIRT1221750	hsa-miR-361-3p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2063999	hsa-miR-3664-3p	CLIP-seq
MIRT1221764	hsa-miR-3689a-3p	CLIP-seq
MIRT1221765	hsa-miR-3689c	CLIP-seq
MIRT2064000	hsa-miR-3976	CLIP-seq
MIRT2064001	hsa-miR-4270	CLIP-seq
MIRT2064002	hsa-miR-4433	CLIP-seq
MIRT2064003	hsa-miR-4437	CLIP-seq
MIRT2064004	hsa-miR-4441	CLIP-seq
MIRT2064005	hsa-miR-4459	CLIP-seq
MIRT2064006	hsa-miR-4721	CLIP-seq
MIRT1221785	hsa-miR-4728-5p	CLIP-seq
MIRT1221786	hsa-miR-4731-5p	CLIP-seq
MIRT2064007	hsa-miR-4768-3p	CLIP-seq
MIRT2064008	hsa-miR-490-3p	CLIP-seq
MIRT2064009	hsa-miR-587	CLIP-seq
MIRT2064010	hsa-miR-589	CLIP-seq
MIRT2064011	hsa-miR-617	CLIP-seq
MIRT2064012	hsa-miR-665	CLIP-seq
MIRT2064013	hsa-miR-3144-5p	CLIP-seq
MIRT2064014	hsa-miR-3919	CLIP-seq
MIRT2064015	hsa-miR-4756-3p	CLIP-seq
MIRT2064016	hsa-miR-711	CLIP-seq
MIRT2063997	hsa-miR-24	CLIP-seq
MIRT2292495	hsa-miR-3130-5p	CLIP-seq
MIRT2064013	hsa-miR-3144-5p	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT2063998	hsa-miR-3164	CLIP-seq
MIRT1221761	hsa-miR-3192	CLIP-seq
MIRT2292496	hsa-miR-331-3p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2063999	hsa-miR-3664-3p	CLIP-seq
MIRT1221764	hsa-miR-3689a-3p	CLIP-seq
MIRT1221765	hsa-miR-3689c	CLIP-seq
MIRT2064014	hsa-miR-3919	CLIP-seq
MIRT2064000	hsa-miR-3976	CLIP-seq
MIRT2292497	hsa-miR-4330	CLIP-seq
MIRT2064002	hsa-miR-4433	CLIP-seq
MIRT2064003	hsa-miR-4437	CLIP-seq
MIRT2064005	hsa-miR-4459	CLIP-seq
MIRT2292498	hsa-miR-4482	CLIP-seq
MIRT1221776	hsa-miR-4492	CLIP-seq
MIRT1221777	hsa-miR-4498	CLIP-seq
MIRT1221778	hsa-miR-4505	CLIP-seq
MIRT2292499	hsa-miR-4712-5p	CLIP-seq
MIRT2064006	hsa-miR-4721	CLIP-seq
MIRT1221785	hsa-miR-4728-5p	CLIP-seq
MIRT1221786	hsa-miR-4731-5p	CLIP-seq
MIRT2064015	hsa-miR-4756-3p	CLIP-seq
MIRT2064007	hsa-miR-4768-3p	CLIP-seq
MIRT2064008	hsa-miR-490-3p	CLIP-seq
MIRT2064009	hsa-miR-587	CLIP-seq
MIRT2064011	hsa-miR-617	CLIP-seq
MIRT2292500	hsa-miR-625	CLIP-seq
MIRT1221791	hsa-miR-637	CLIP-seq
MIRT1221794	hsa-miR-668	CLIP-seq
MIRT2064016	hsa-miR-711	CLIP-seq
MIRT1221795	hsa-miR-762	CLIP-seq
MIRT2292501	hsa-miR-770-5p	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT2392325	hsa-miR-3202	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2392326	hsa-miR-4271	CLIP-seq
MIRT2392327	hsa-miR-4278	CLIP-seq
MIRT1221771	hsa-miR-4447	CLIP-seq
MIRT1221773	hsa-miR-4472	CLIP-seq
MIRT1221775	hsa-miR-4488	CLIP-seq
MIRT1221784	hsa-miR-4697-5p	CLIP-seq
MIRT2392328	hsa-miR-4725-3p	CLIP-seq
MIRT2392329	hsa-miR-4747-5p	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2590596	hsa-miR-1193	CLIP-seq
MIRT2590597	hsa-miR-124	CLIP-seq
MIRT2590598	hsa-miR-1275	CLIP-seq
MIRT2590599	hsa-miR-141	CLIP-seq
MIRT2590600	hsa-miR-1587	CLIP-seq
MIRT2590601	hsa-miR-1912	CLIP-seq
MIRT2590602	hsa-miR-1914	CLIP-seq
MIRT2590603	hsa-miR-1972	CLIP-seq
MIRT2590604	hsa-miR-200a	CLIP-seq
MIRT2590605	hsa-miR-214	CLIP-seq
MIRT1221756	hsa-miR-2392	CLIP-seq
MIRT2064013	hsa-miR-3144-5p	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT2063998	hsa-miR-3164	CLIP-seq
MIRT2590606	hsa-miR-3183	CLIP-seq
MIRT2590607	hsa-miR-3184	CLIP-seq
MIRT2392325	hsa-miR-3202	CLIP-seq
MIRT2590608	hsa-miR-3605-5p	CLIP-seq
MIRT1221750	hsa-miR-361-3p	CLIP-seq
MIRT2590609	hsa-miR-3614-5p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2590610	hsa-miR-3619-5p	CLIP-seq
MIRT2590611	hsa-miR-3714	CLIP-seq
MIRT2590612	hsa-miR-3909	CLIP-seq
MIRT2590613	hsa-miR-3910	CLIP-seq
MIRT2590614	hsa-miR-3922-5p	CLIP-seq
MIRT2064000	hsa-miR-3976	CLIP-seq
MIRT2590615	hsa-miR-423-5p	CLIP-seq
MIRT2590616	hsa-miR-4265	CLIP-seq
MIRT2064001	hsa-miR-4270	CLIP-seq
MIRT2590617	hsa-miR-4291	CLIP-seq
MIRT2590618	hsa-miR-4296	CLIP-seq
MIRT2590619	hsa-miR-4322	CLIP-seq
MIRT2590620	hsa-miR-4417	CLIP-seq
MIRT2590621	hsa-miR-4436b-5p	CLIP-seq
MIRT2064004	hsa-miR-4441	CLIP-seq
MIRT1221771	hsa-miR-4447	CLIP-seq
MIRT2064005	hsa-miR-4459	CLIP-seq
MIRT1221773	hsa-miR-4472	CLIP-seq
MIRT1221776	hsa-miR-4492	CLIP-seq
MIRT2590622	hsa-miR-4493	CLIP-seq
MIRT1221777	hsa-miR-4498	CLIP-seq
MIRT1221778	hsa-miR-4505	CLIP-seq
MIRT2590623	hsa-miR-4525	CLIP-seq
MIRT2590624	hsa-miR-4533	CLIP-seq
MIRT2590625	hsa-miR-4640-3p	CLIP-seq
MIRT2590626	hsa-miR-4656	CLIP-seq
MIRT2590627	hsa-miR-4663	CLIP-seq
MIRT2590628	hsa-miR-4665-5p	CLIP-seq
MIRT2590629	hsa-miR-4675	CLIP-seq
MIRT2590630	hsa-miR-4688	CLIP-seq
MIRT2590631	hsa-miR-4690-5p	CLIP-seq
MIRT2590632	hsa-miR-4710	CLIP-seq
MIRT2590633	hsa-miR-4723-3p	CLIP-seq
MIRT2590634	hsa-miR-4723-5p	CLIP-seq
MIRT1221786	hsa-miR-4731-5p	CLIP-seq
MIRT2590635	hsa-miR-4741	CLIP-seq
MIRT2590636	hsa-miR-4753-5p	CLIP-seq
MIRT2590637	hsa-miR-4792	CLIP-seq
MIRT2064008	hsa-miR-490-3p	CLIP-seq
MIRT2590638	hsa-miR-506	CLIP-seq
MIRT2064009	hsa-miR-587	CLIP-seq
MIRT2064010	hsa-miR-589	CLIP-seq
MIRT2064011	hsa-miR-617	CLIP-seq
MIRT2292500	hsa-miR-625	CLIP-seq
MIRT1221791	hsa-miR-637	CLIP-seq
MIRT2064012	hsa-miR-665	CLIP-seq
MIRT2064016	hsa-miR-711	CLIP-seq
MIRT2590639	hsa-miR-761	CLIP-seq
MIRT1221795	hsa-miR-762	CLIP-seq
MIRT2590640	hsa-miR-890	CLIP-seq
MIRT2590641	hsa-miR-922	CLIP-seq
MIRT2064013	hsa-miR-3144-5p	CLIP-seq
MIRT2064016	hsa-miR-711	CLIP-seq
MIRT2590596	hsa-miR-1193	CLIP-seq
MIRT2590597	hsa-miR-124	CLIP-seq
MIRT2687490	hsa-miR-125a-3p	CLIP-seq
MIRT2687491	hsa-miR-1266	CLIP-seq
MIRT2590598	hsa-miR-1275	CLIP-seq
MIRT2687492	hsa-miR-1302	CLIP-seq
MIRT2590599	hsa-miR-141	CLIP-seq
MIRT2590600	hsa-miR-1587	CLIP-seq
MIRT2590601	hsa-miR-1912	CLIP-seq
MIRT2590602	hsa-miR-1914	CLIP-seq
MIRT2590603	hsa-miR-1972	CLIP-seq
MIRT2590604	hsa-miR-200a	CLIP-seq
MIRT2590605	hsa-miR-214	CLIP-seq
MIRT1221756	hsa-miR-2392	CLIP-seq
MIRT2292495	hsa-miR-3130-5p	CLIP-seq
MIRT2064013	hsa-miR-3144-5p	CLIP-seq
MIRT2687493	hsa-miR-3153	CLIP-seq
MIRT1221749	hsa-miR-3162-5p	CLIP-seq
MIRT2063998	hsa-miR-3164	CLIP-seq
MIRT2590606	hsa-miR-3183	CLIP-seq
MIRT2590607	hsa-miR-3184	CLIP-seq
MIRT1221761	hsa-miR-3192	CLIP-seq
MIRT2392325	hsa-miR-3202	CLIP-seq
MIRT2687494	hsa-miR-326	CLIP-seq
MIRT2687495	hsa-miR-330-5p	CLIP-seq
MIRT2292496	hsa-miR-331-3p	CLIP-seq
MIRT2590608	hsa-miR-3605-5p	CLIP-seq
MIRT1221750	hsa-miR-361-3p	CLIP-seq
MIRT2590609	hsa-miR-3614-5p	CLIP-seq
MIRT1221751	hsa-miR-3619-3p	CLIP-seq
MIRT2590610	hsa-miR-3619-5p	CLIP-seq
MIRT2063999	hsa-miR-3664-3p	CLIP-seq
MIRT2590611	hsa-miR-3714	CLIP-seq
MIRT2590612	hsa-miR-3909	CLIP-seq
MIRT2590613	hsa-miR-3910	CLIP-seq
MIRT2590614	hsa-miR-3922-5p	CLIP-seq
MIRT2687496	hsa-miR-3934	CLIP-seq
MIRT2064000	hsa-miR-3976	CLIP-seq
MIRT2590615	hsa-miR-423-5p	CLIP-seq
MIRT2590616	hsa-miR-4265	CLIP-seq
MIRT2064001	hsa-miR-4270	CLIP-seq
MIRT2590617	hsa-miR-4291	CLIP-seq
MIRT2590618	hsa-miR-4296	CLIP-seq
MIRT2687497	hsa-miR-4298	CLIP-seq
MIRT2687498	hsa-miR-4314	CLIP-seq
MIRT2590619	hsa-miR-4322	CLIP-seq
MIRT2590620	hsa-miR-4417	CLIP-seq
MIRT2590621	hsa-miR-4436b-5p	CLIP-seq
MIRT2064004	hsa-miR-4441	CLIP-seq
MIRT1221771	hsa-miR-4447	CLIP-seq
MIRT2064005	hsa-miR-4459	CLIP-seq
MIRT1221773	hsa-miR-4472	CLIP-seq
MIRT2292498	hsa-miR-4482	CLIP-seq
MIRT1221776	hsa-miR-4492	CLIP-seq
MIRT2590622	hsa-miR-4493	CLIP-seq
MIRT1221777	hsa-miR-4498	CLIP-seq
MIRT1221778	hsa-miR-4505	CLIP-seq
MIRT2687499	hsa-miR-4518	CLIP-seq
MIRT2590623	hsa-miR-4525	CLIP-seq
MIRT2590624	hsa-miR-4533	CLIP-seq
MIRT2590625	hsa-miR-4640-3p	CLIP-seq
MIRT2687500	hsa-miR-4646-5p	CLIP-seq
MIRT2590626	hsa-miR-4656	CLIP-seq
MIRT2687501	hsa-miR-4659a-5p	CLIP-seq
MIRT2687502	hsa-miR-4659b-5p	CLIP-seq
MIRT2590627	hsa-miR-4663	CLIP-seq
MIRT2590628	hsa-miR-4665-5p	CLIP-seq
MIRT2687503	hsa-miR-4668-5p	CLIP-seq
MIRT2590629	hsa-miR-4675	CLIP-seq
MIRT2590630	hsa-miR-4688	CLIP-seq
MIRT2590631	hsa-miR-4690-5p	CLIP-seq
MIRT2590632	hsa-miR-4710	CLIP-seq
MIRT2292499	hsa-miR-4712-5p	CLIP-seq
MIRT2687504	hsa-miR-4716-3p	CLIP-seq
MIRT2590633	hsa-miR-4723-3p	CLIP-seq
MIRT2590634	hsa-miR-4723-5p	CLIP-seq
MIRT1221786	hsa-miR-4731-5p	CLIP-seq
MIRT2590635	hsa-miR-4741	CLIP-seq
MIRT2590636	hsa-miR-4753-5p	CLIP-seq
MIRT2590637	hsa-miR-4792	CLIP-seq
MIRT2064008	hsa-miR-490-3p	CLIP-seq
MIRT2590638	hsa-miR-506	CLIP-seq
MIRT2064009	hsa-miR-587	CLIP-seq
MIRT2064010	hsa-miR-589	CLIP-seq
MIRT2687505	hsa-miR-593	CLIP-seq
MIRT2064011	hsa-miR-617	CLIP-seq
MIRT2292500	hsa-miR-625	CLIP-seq
MIRT1221791	hsa-miR-637	CLIP-seq
MIRT2064012	hsa-miR-665	CLIP-seq
MIRT2064016	hsa-miR-711	CLIP-seq
MIRT2590639	hsa-miR-761	CLIP-seq
MIRT1221795	hsa-miR-762	CLIP-seq
MIRT2687506	hsa-miR-764	CLIP-seq
MIRT2292501	hsa-miR-770-5p	CLIP-seq
MIRT2590640	hsa-miR-890	CLIP-seq
MIRT2590641	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARG	Repression	15955060

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	7499431, 10748134
GO:0004740	Function	Pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA
GO:0004740	Function	Pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA	19833728
GO:0004740	Function	Pyruvate dehydrogenase (acetyl-transferring) kinase activity	IEA
GO:0004740	Function	Pyruvate dehydrogenase (acetyl-transferring) kinase activity	TAS	7499431
GO:0005515	Function	Protein binding	IPI	16169070, 32814053
GO:0005524	Function	ATP binding	IDA	16401071
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006006	Process	Glucose metabolic process	TAS	7499431
GO:0006111	Process	Regulation of gluconeogenesis	IEA
GO:0006111	Process	Regulation of gluconeogenesis	ISS
GO:0006885	Process	Regulation of pH	IEA
GO:0006885	Process	Regulation of pH	ISS
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008286	Process	Insulin receptor signaling pathway	ISS
GO:0010510	Process	Regulation of pyruvate decarboxylation to acetyl-CoA	IBA
GO:0010510	Process	Regulation of pyruvate decarboxylation to acetyl-CoA	IEA
GO:0010510	Process	Regulation of pyruvate decarboxylation to acetyl-CoA	ISS
GO:0010565	Process	Regulation of ketone metabolic process	IEA
GO:0010565	Process	Regulation of ketone metabolic process	ISS
GO:0010906	Process	Regulation of glucose metabolic process	IBA
GO:0010906	Process	Regulation of glucose metabolic process	IEA
GO:0010906	Process	Regulation of glucose metabolic process	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031670	Process	Cellular response to nutrient	IEA
GO:0031670	Process	Cellular response to nutrient	ISS
GO:0033554	Process	Cellular response to stress	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	21283817
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042803	Function	Protein homodimerization activity	IPI	19833728
GO:0045254	Component	Pyruvate dehydrogenase complex	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	ISS
GO:0050848	Process	Regulation of calcium-mediated signaling	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IMP	22123926

Other IDs

• MIM: 602525
• HGNC: 8810
• e!Ensembl: ENSG00000005882

Protein

• UniProt ID: Q15119
• Protein name: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 2) (PDH kinase 2) (PDKII)
• Protein function: Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates
• PDB: 2BTZ, 2BU2, 2BU5, 2BU6, 2BU7, 2BU8, 4MP2, 4MP7, 4MPC, 4MPE, 4MPN, 4V25, 4V26, 5J6A, 5J71, 5M4K, 5M4M, 5M4N, 5M4P, 6LIL, 6LIN, 6LIO, 6TMP, 6TMQ, 6TMZ, 6TN0, 6TN2, 7EA0, 7EAS, 7EBH, 7VBU, 7VBV, 7VBX, 8ZM1, 8ZM2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10436	BCDHK_Adom3	30 → 192	Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase	Family
  PF02518	HATPase_c	240 → 364	Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues, with the highest level in heart and skeletal muscle, intermediate levels in brain, kidney, pancreas and liver, and low levels in placenta and lung. {ECO:0000269|PubMed:7499431}.
• Sequence:

  MRWVWALLKNASLAGAPKYIEHFSKFSPSPLSMKQFLDFGSSNACEKTSFTFLRQELPVR
  LANIMKEINLLPDRVLSTPSVQLVQSWYVQSLLDIMEFLDKDPEDHRTLSQFTDALVTIR
  NRHNDVVPTMAQGVLEYKDTYGDDPVSNQNIQYFLDRFYLSRISIRMLINQHTLIFDGST
  NPAHPKHIGSIDPNCNVSEVVKDAYDMAKLLCDKYYMASPDLEIQEINAANSKQPIHMVY
  VPSHLYHMLFELFKNAMRATVESHESSLILPPIKVMVALGEEDLSIKMSDRGGGVPLRKI
  ERLFSYMYSTAPTPQPGTGGTPLAGFGYGLPISRLYAKYFQGDLQLFSMEGFGTDAVIYL
  KALSTDSVERLPVYNKSAWRHYQTIQEAGDWCVPSTEPKNTSTYRVS

• Sequence length: 407

Pathways

KEGG:

Diabetic cardiomyopathy

Reactome:

Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	27767175		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30457021		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22562547	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35212603	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32022476, 35212603	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30457021		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33564363, 37147361	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27767175	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	21037199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	21037199		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28225870		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	9787110		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37986381	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	26909964	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26607904		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17054779	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17986714	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37147361	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30578412		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31329335		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26607904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30457021		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22614004		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	21037199		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17054779, 28881758, 30457021		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	9787110		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34980012	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17054779	Associate	★☆☆☆☆ Found in Text Mining only