Gene Gene information from NCBI Gene database.
Entrez ID 5166
Gene name Pyruvate dehydrogenase kinase 4
Gene symbol PDK4
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q21.3
Summary This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating
miRNA miRNA information provided by mirtarbase database.
214
miRTarBase ID miRNA Experiments Reference
MIRT018910 hsa-miR-335-5p Microarray 18185580
MIRT027229 hsa-miR-103a-3p Sequencing 20371350
MIRT030098 hsa-miR-26b-5p Microarray 19088304
MIRT032003 hsa-miR-16-5p Sequencing 20371350
MIRT734505 hsa-miR-152-3p ELISAFlow cytometryImmunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting 34165388
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
E2F1 Repression 21625432
NFKB1 Repression 21625432
PPARA Activation 15955060
PPARD Activation 15955060
RELA Repression 21625432
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 18658136
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 8798399
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602527 8812 ENSG00000004799
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16654
Protein name [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 4)
Protein function Kinase that plays a key role in 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 meta
PDB 2E0A , 2ZDX , 2ZDY , 2ZKJ , 3D2R , 7EAT , 7EBB , 7EBG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10436 BCDHK_Adom3 34 195 Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase Family
PF02518 HATPase_c 243 368 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; highest levels of expression in heart and skeletal muscle. {ECO:0000269|PubMed:14966024, ECO:0000269|PubMed:21816445}.
Sequence
Sequence length 411
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Diabetic cardiomyopathy   Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Stimulate 29129636
★☆☆☆☆
Found in Text Mining only
Ascites Associate 32390009
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Associate 27332823
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 33763657, 37893423, 39380996
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26506419, 30837223, 34557456, 37398672, 37787988
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 33564363, 37689589
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Associate 28500252, 32127618
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 36582228
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 28692044, 35894141, 37340443
★☆☆☆☆
Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 32127618
★☆☆☆☆
Found in Text Mining only