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Aliases for PDK2 Gene

Aliases for PDK2 Gene

  • Pyruvate Dehydrogenase Kinase 2 2 3
  • Pyruvate Dehydrogenase Kinase, Isoenzyme 2 2 3
  • Pyruvate Dehydrogenase Kinase, Isozyme 2 2 5
  • PDH Kinase 2 3 4
  • EC 2.7.11.2 4 63
  • PDHK2 3 4
  • PDKII 3 4
  • [Pyruvate Dehydrogenase (Acetyl-Transferring)] Kinase Isozyme 2, Mitochondrial 3
  • Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 2, Mitochondrial 3
  • Pyruvate Dehydrogenase Kinase Isoform 2 4
  • EC 2.7.11 63

External Ids for PDK2 Gene

Previous GeneCards Identifiers for PDK2 Gene

  • GC17P047981
  • GC17P050654
  • GC17P048514
  • GC17P048647
  • GC17P045527
  • GC17P048172
  • GC17P043540

Summaries for PDK2 Gene

Entrez Gene Summary for PDK2 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 role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for PDK2 Gene

PDK2 (Pyruvate Dehydrogenase Kinase 2) is a Protein Coding gene. Diseases associated with PDK2 include polycystic kidney disease 2. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Metabolism. GO annotations related to this gene include protein homodimerization activity and protein serine/threonine kinase activity. An important paralog of this gene is BCKDK.

UniProtKB/Swiss-Prot for PDK2 Gene

  • 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 metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis.

Gene Wiki entry for PDK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDK2 Gene

Genomics for PDK2 Gene

Regulatory Elements for PDK2 Gene

Enhancers for PDK2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDK2 on UCSC Golden Path with GeneCards custom track

Promoters for PDK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDK2 Gene

Chromosome:
17
Start:
50,094,737 bp from pter
End:
50,112,152 bp from pter
Size:
17,416 bases
Orientation:
Plus strand

Genomic View for PDK2 Gene

Genes around PDK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDK2 Gene

Proteins for PDK2 Gene

  • Protein details for PDK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15119-PDK2_HUMAN
    Recommended name:
    [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial
    Protein Accession:
    Q15119
    Secondary Accessions:
    • A8K3A7
    • B3KNW0
    • Q6P515
    • Q9BS05

    Protein attributes for PDK2 Gene

    Size:
    407 amino acids
    Molecular mass:
    46154 Da
    Quaternary structure:
    • Homodimer, and heterodimer with PDK1. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3).

    Three dimensional structures from OCA and Proteopedia for PDK2 Gene

    Alternative splice isoforms for PDK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDK2 Gene

Proteomics data for PDK2 Gene at MOPED

Post-translational modifications for PDK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PDK2 Gene

Gene Families for PDK2 Gene

Protein Domains for PDK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q15119

UniProtKB/Swiss-Prot:

PDK2_HUMAN :
  • Contains 1 histidine kinase domain.
  • Belongs to the PDK/BCKDK protein kinase family.
Domain:
  • Contains 1 histidine kinase domain.
Family:
  • Belongs to the PDK/BCKDK protein kinase family.
genes like me logo Genes that share domains with PDK2: view

Function for PDK2 Gene

Molecular function for PDK2 Gene

GENATLAS Biochemistry:
pyruvate dehydrogenase kinase,isoenzyme 2
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [pyruvate dehydrogenase (acetyl-transferring)] = ADP + [pyruvate dehydrogenase (acetyl-transferring)] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is enhanced by binding to the pyruvate dehydrogenase subunit DLAT. Inhibited by ADP and pyruvate; these compounds interfere with DLAT binding and thereby inhibit kinase activity. Inhibited by dichloroacetate. Inhibited by AZD7545; this compound interferes with DLAT binding and thereby inhibits kinase activity.
UniProtKB/Swiss-Prot 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 metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis.
UniProtKB/Swiss-Prot Induction:
Down-regulated by insulin. Up-regulated by reactive oxygen species and cigarette smoke extract. Up-regulated by PPARD.

Enzyme Numbers (IUBMB) for PDK2 Gene

Gene Ontology (GO) - Molecular Function for PDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IPI 19833728
genes like me logo Genes that share ontologies with PDK2: view
genes like me logo Genes that share phenotypes with PDK2: view

Animal Models for PDK2 Gene

MGI Knock Outs for PDK2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PDK2

miRNA for PDK2 Gene

miRTarBase miRNAs that target PDK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDK2 Gene

Localization for PDK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDK2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDK2 Gene COMPARTMENTS Subcellular localization image for PDK2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for PDK2 Gene

Pathways & Interactions for PDK2 Gene

genes like me logo Genes that share pathways with PDK2: view

Pathways by source for PDK2 Gene

SIGNOR curated interactions for PDK2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006111 regulation of gluconeogenesis ISS --
GO:0006885 regulation of pH ISS --
GO:0008286 insulin receptor signaling pathway ISS --
GO:0031670 cellular response to nutrient ISS --
genes like me logo Genes that share ontologies with PDK2: view

Drugs & Compounds for PDK2 Gene

(11) Drugs for PDK2 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(N-{4-[(ETHYLANILINO)SULFONYL]-2-METHYLPHENYL}-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANAMIDE Experimental Pharma Target 0
4-({(2R,5S)-2,5-DIMETHYL-4-[(2R)-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANOYL]PIPERAZIN-1-YL}CARBONYL)BENZONITRILE Experimental Pharma Target 0
N-(2-AMINOETHYL)-2-{3-CHLORO-4-[(4-ISOPROPYLBENZYL)OXY]PHENYL} ACETAMIDE Experimental Pharma Target 0
AZD7545 Pharma PDHK inhibitor,potent and selective 0
CPI-613 Pharma PDH/α-KGDH inhibitor 0

(13) Additional Compounds for PDK2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PDK2 Gene

Compound Action Cas Number
AZD7545 PDHK inhibitor,potent and selective 252017-04-2
genes like me logo Genes that share compounds with PDK2: view

Transcripts for PDK2 Gene

Unigene Clusters for PDK2 Gene

Pyruvate dehydrogenase kinase, isozyme 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PDK2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - - - -
SP2: - - - - - -
SP3:
SP4: - - - - -
SP5: - -
SP6: - -
SP7:
SP8: -

Relevant External Links for PDK2 Gene

GeneLoc Exon Structure for
PDK2
ECgene alternative splicing isoforms for
PDK2

Expression for PDK2 Gene

mRNA expression in normal human tissues for PDK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDK2 Gene

This gene is overexpressed in Heart (10.5), Salivary gland (7.9), Frontal cortex (7.5), and Urinary Bladder (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDK2 Gene



SOURCE GeneReport for Unigene cluster for PDK2 Gene Hs.256667

mRNA Expression by UniProt/SwissProt for PDK2 Gene

Q15119-PDK2_HUMAN
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.
genes like me logo Genes that share expression patterns with PDK2: view

Protein tissue co-expression partners for PDK2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PDK2 Gene

Orthologs for PDK2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PDK2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDK2 35
  • 94.1 (n)
  • 98.03 (a)
PDK2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDK2 35
  • 93.53 (n)
  • 98.77 (a)
PDK2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdk2 35
  • 91.56 (n)
  • 97.54 (a)
Pdk2 16
Pdk2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDK2 35
  • 99.67 (n)
  • 99.75 (a)
PDK2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdk2 35
  • 91.97 (n)
  • 97.54 (a)
oppossum
(Monodelphis domestica)
Mammalia PDK2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDK2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDK2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdk4 35
  • 68.82 (n)
  • 74.88 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-67g8.1 35
  • 70.02 (n)
  • 73.22 (a)
zgc56209 35
pdk2 36
  • 71 (a)
OneToMany
PDK2 (1 of 2) 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pdk 37
  • 56 (a)
Pdk 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.5 37
  • 51 (a)
pdhk-2 36
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3938 36
  • 46 (a)
OneToMany
Species with no ortholog for PDK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDK2 Gene

ENSEMBL:
Gene Tree for PDK2 (if available)
TreeFam:
Gene Tree for PDK2 (if available)

Paralogs for PDK2 Gene

Paralogs for PDK2 Gene

(4) SIMAP similar genes for PDK2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for PDK2 Gene

genes like me logo Genes that share paralogs with PDK2: view

Variants for PDK2 Gene

Sequence variations from dbSNP and Humsavar for PDK2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs17855787 A glioblastoma multiforme sample 50,109,341(+) TCCAG(A/G)GAGAC reference, missense
rs9839 -- 50,097,544(+) CCCTC(C/T)GTGCA reference, synonymous-codon
rs11237 -- 50,106,107(+) GGTGG(A/C/G/T)GGGGG intron-variant, reference, synonymous-codon
rs705966 -- 50,110,305(-) AGAGA(A/C/G/T)AGGGA utr-variant-3-prime
rs1051970 -- 50,108,668(+) AGCTA(C/T)ATGTA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PDK2 Gene

Variant ID Type Subtype PubMed ID
nsv908588 CNV Loss 21882294
nsv908590 CNV Loss 21882294
dgv3225n71 CNV Loss 21882294
dgv3226n71 CNV Loss 21882294
dgv3227n71 CNV Loss 21882294

Variation tolerance for PDK2 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDK2 Gene

HapMap Linkage Disequilibrium report
PDK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDK2 Gene

Disorders for PDK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDK2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease 2
  • polycystic kidney disease, type 2
- elite association - COSMIC cancer census association via MalaCards
Search PDK2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDK2

Genetic Association Database (GAD)
PDK2
Human Genome Epidemiology (HuGE) Navigator
PDK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDK2
genes like me logo Genes that share disorders with PDK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDK2 Gene

Publications for PDK2 Gene

  1. Diversity of the pyruvate dehydrogenase kinase gene family in humans. (PMID: 7499431) Gudi R. … Popov K.M. (J. Biol. Chem. 1995) 2 3 4 23 67
  2. Pivotal role of the C-terminal DW-motif in mediating inhibition of pyruvate dehydrogenase kinase 2 by dichloroacetate. (PMID: 19833728) Li J. … Chuang D.T. (J. Biol. Chem. 2009) 3 23
  3. Mitochondrial mutations contribute to HIF1alpha accumulation via increased reactive oxygen species and up-regulated pyruvate dehydrogenease kinase 2 in head and neck squamous cell carcinoma. (PMID: 19147752) Sun W. … Califano J.A. (Clin. Cancer Res. 2009) 3 23
  4. Critical role of specific ions for ligand-induced changes regulating pyruvate dehydrogenase kinase isoform 2. (PMID: 18220414) Hiromasa Y. … Roche T.E. (Biochemistry 2008) 3 23
  5. Specific ion influences on self-association of pyruvate dehydrogenase kinase isoform 2 (PDHK2), binding of PDHK2 to the L2 lipoyl domain, and effects of the lipoyl group-binding site inhibitor, Nov3r. (PMID: 18220415) Hiromasa Y. … Roche T.E. (Biochemistry 2008) 3 23

Products for PDK2 Gene

Sources for PDK2 Gene

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