Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5164
Gene name Gene Name - the full gene name approved by the HGNC.
Pyruvate dehydrogenase kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDK2
Synonyms (NCBI Gene) Gene synonyms aliases
PDHK2, PDKII
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
PPARG Repression 15955060
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity TAS 7499431, 10748134
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA 21873635
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA 19833728
GO:0005515 Function Protein binding IPI 16169070, 32814053
GO:0005524 Function ATP binding IDA 16401071
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602525 8810 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
Sequence length 407
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies, Primary, Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
21037199
Glioblastoma Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 22562547
Calcinosis Cutis Associate 17054779
Carcinogenesis Associate 35212603
Carcinoma Hepatocellular Associate 32022476, 35212603
Carcinoma Renal Cell Associate 33564363, 37147361
Carcinoma Squamous Cell Associate 27767175
Diabetic Nephropathies Associate 37986381
Gout Associate 26909964
Hypoxia Associate 17054779
Insulin Resistance Inhibit 17986714