Human Gene PDK2 (ENST00000503176.6_4) from GENCODE V47lift37
  Description: pyruvate dehydrogenase kinase 2, transcript variant 1 (from RefSeq NM_002611.5)
Gencode Transcript: ENST00000503176.6_4
Gencode Gene: ENSG00000005882.12_15
Transcript (Including UTRs)
   Position: hg19 chr17:48,172,715-48,189,516 Size: 16,802 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr17:48,172,800-48,187,461 Size: 14,662 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:48,172,715-48,189,516)mRNA (may differ from genome)Protein (407 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PDK2_HUMAN
DESCRIPTION: RecName: Full=[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 2, mitochondrial; EC=2.7.11.2; AltName: Full=Pyruvate dehydrogenase kinase isoform 2; Flags: Precursor;
FUNCTION: Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism.
CATALYTIC ACTIVITY: ATP + [pyruvate dehydrogenase (acetyl- transferring)] = ADP + [pyruvate dehydrogenase (acetyl- transferring)] phosphate.
SUBCELLULAR LOCATION: Mitochondrion matrix.
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.
SIMILARITY: Belongs to the PDK/BCKDK protein kinase family.
SIMILARITY: Contains 1 histidine kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDK2
Diseases sorted by gene-association score: polycystic kidney disease 2 (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 59.53 RPKM in Brain - Cerebellum
Total median expression: 866.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.7085-0.491 Picture PostScript Text
3' UTR -894.302055-0.435 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003594 - ATPase-like_ATP-bd
IPR018955 - BCDHK/PDK_N
IPR005467 - Sig_transdc_His_kinase_core

Pfam Domains:
PF02518 - Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
PF10436 - Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

SCOP Domains:
69012 - alpha-ketoacid dehydrogenase kinase, N-terminal domain
55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BTZ - X-ray MuPIT 2BU2 - X-ray MuPIT 2BU5 - X-ray MuPIT 2BU6 - X-ray MuPIT 2BU7 - X-ray MuPIT 2BU8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15119
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006111 regulation of gluconeogenesis
GO:0006468 protein phosphorylation
GO:0006885 regulation of pH
GO:0008286 insulin receptor signaling pathway
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate
GO:0010565 regulation of cellular ketone metabolic process
GO:0010906 regulation of glucose metabolic process
GO:0016310 phosphorylation
GO:0031670 cellular response to nutrient
GO:0034614 cellular response to reactive oxygen species
GO:0042593 glucose homeostasis
GO:0050848 regulation of calcium-mediated signaling
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005967 mitochondrial pyruvate dehydrogenase complex


-  Descriptions from all associated GenBank mRNAs
  AK055119 - Homo sapiens cDNA FLJ30557 fis, clone BRAWH2003948, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 2 (EC 2.7.11.2).
AK297089 - Homo sapiens cDNA FLJ55100 complete cds, moderately similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 2 (EC 2.7.11.2).
BC040478 - Homo sapiens pyruvate dehydrogenase kinase, isozyme 2, mRNA (cDNA clone MGC:32801 IMAGE:4690182), complete cds.
BC063137 - Homo sapiens pyruvate dehydrogenase kinase, isozyme 2, mRNA (cDNA clone MGC:72153 IMAGE:4272593), complete cds.
AK293600 - Homo sapiens cDNA FLJ52882 complete cds, highly similar to Pyruvate dehydrogenase (lipoamide) kinase isozyme 2 (EC 2.7.11.2).
AK290522 - Homo sapiens cDNA FLJ75644 complete cds, highly similar to Homo sapiens pyruvate dehydrogenase kinase, isoenzyme 2 (PDK2), mRNA.
BC005811 - Homo sapiens pyruvate dehydrogenase kinase, isozyme 2, mRNA (cDNA clone MGC:10386 IMAGE:3831465), complete cds.
L42451 - Homo sapiens pyruvate dehydrogenase kinase isoenzyme 2 (PDK2) mRNA, complete cds.
JF432702 - Synthetic construct Homo sapiens clone IMAGE:100073941 pyruvate dehydrogenase kinase, isozyme 2 (PDK2) gene, encodes complete protein.
KJ891772 - Synthetic construct Homo sapiens clone ccsbBroadEn_01166 PDK2 gene, encodes complete protein.
KJ905253 - Synthetic construct Homo sapiens clone ccsbBroadEn_14738 PDK2 gene, encodes complete protein.
JD143947 - Sequence 124971 from Patent EP1572962.
JD124442 - Sequence 105466 from Patent EP1572962.
JD396901 - Sequence 377925 from Patent EP1572962.
JD513351 - Sequence 494375 from Patent EP1572962.
JD449025 - Sequence 430049 from Patent EP1572962.
JD493634 - Sequence 474658 from Patent EP1572962.
JD254095 - Sequence 235119 from Patent EP1572962.
JD219264 - Sequence 200288 from Patent EP1572962.
JD224766 - Sequence 205790 from Patent EP1572962.
JD159542 - Sequence 140566 from Patent EP1572962.
JD220234 - Sequence 201258 from Patent EP1572962.
JD382284 - Sequence 363308 from Patent EP1572962.
JD059441 - Sequence 40465 from Patent EP1572962.
JD222831 - Sequence 203855 from Patent EP1572962.
JD201596 - Sequence 182620 from Patent EP1572962.
JD138867 - Sequence 119891 from Patent EP1572962.
JD347018 - Sequence 328042 from Patent EP1572962.
JD387283 - Sequence 368307 from Patent EP1572962.
JD253846 - Sequence 234870 from Patent EP1572962.
JD086550 - Sequence 67574 from Patent EP1572962.
JD383469 - Sequence 364493 from Patent EP1572962.
JD368237 - Sequence 349261 from Patent EP1572962.
JD365340 - Sequence 346364 from Patent EP1572962.
LF209269 - JP 2014500723-A/16772: Polycomb-Associated Non-Coding RNAs.
MA444846 - JP 2018138019-A/16772: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_mTORPathway - mTOR Signaling Pathway
h_ptenPathway - PTEN dependent cell cycle arrest and apoptosis

Reactome (by CSHL, EBI, and GO)

Protein Q15119 (Reactome details) participates in the following event(s):

R-HSA-9011543 DCA binds PDK2
R-HSA-203946 PDK isoforms phosphorylate lipo-PDH
R-HSA-204174 Regulation of pyruvate dehydrogenase (PDH) complex
R-HSA-70268 Pyruvate metabolism
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3A7, B3KNW0, ENST00000503176.1, ENST00000503176.2, ENST00000503176.3, ENST00000503176.4, ENST00000503176.5, NM_002611, PDHK2, PDK2_HUMAN, Q15119, Q6P515, Q9BS05, uc322wvv.1, uc322wvv.2
UCSC ID: ENST00000503176.6_4
RefSeq Accession: NM_002611.5
Protein: Q15119 (aka PDK2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.