Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDK2 Gene

Aliases for PDK2 Gene

  • Pyruvate Dehydrogenase Kinase 2 2 3 5
  • Pyruvate Dehydrogenase Kinase, Isoenzyme 2 2 3
  • Pyruvate Dehydrogenase Kinase, Isozyme 2 2 3
  • PDH Kinase 2 3 4
  • 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 2.7.11.2 4

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 Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Metabolism and Signaling by Retinoic Acid. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein serine/threonine kinase activity. An important paralog of this gene is PDK1.

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

Additional gene information for PDK2 Gene

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

Genomics for PDK2 Gene

GeneHancer (GH) Regulatory Elements for PDK2 Gene

Promoters and enhancers for PDK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J050093 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 678.7 +0.8 822 3.4 HDGF CLOCK MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B PDK2 ENSG00000276851 PICART1 KAT7 NXPH3 LOC105371824 ITGA3 ENSG00000275025
GH17J050094 Enhancer 0.4 ENCODE dbSUPER 661 -1.2 -1205 0.2 PDK2 ENSG00000276851 GC17P050063
GH17J050095 Enhancer 0.4 ENCODE dbSUPER 650.7 -1.6 -1626 0.1 ENSG00000276851 PDK2 GC17P050063
GH17J050096 Enhancer 0.2 dbSUPER 650.7 -1.4 -1395 0.1 PDK2 ENSG00000276851 GC17P050063
GH17J050107 Enhancer 1.3 Ensembl ENCODE dbSUPER 29.2 +16.0 15984 6.4 ELF3 ARID4B KLF17 THRB ZNF48 RAD21 TCF12 EGR1 FOS RXRA PDK2 SGCA ENSG00000253730 HILS1 ENSG00000248172 DLX3 SAMD14 ACSF2 CHAD PICART1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDK2 gene promoter:
  • Nkx2-5
  • NF-AT4
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • HOXA5
  • XBP-1
  • SRF (504 AA)
  • SRF

Genomic Locations for PDK2 Gene

Genomic Locations for PDK2 Gene
chr17:50,094,737-50,112,152
(GRCh38/hg38)
Size:
17,416 bases
Orientation:
Plus strand
chr17:48,172,101-48,189,516
(GRCh37/hg19)
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

Post-translational modifications for PDK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDK2 Gene

Domains & Families for PDK2 Gene

Gene Families for PDK2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PDK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q15119

UniProtKB/Swiss-Prot:

PDK2_HUMAN :
  • Belongs to the PDK/BCKDK protein kinase family.
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

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 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 Induction:
Down-regulated by insulin. Up-regulated by reactive oxygen species and cigarette smoke extract. Up-regulated by PPARD.
GENATLAS Biochemistry:
pyruvate dehydrogenase kinase,isoenzyme 2

Enzyme Numbers (IUBMB) for PDK2 Gene

Phenotypes From GWAS Catalog for PDK2 Gene

Gene Ontology (GO) - Molecular Function for PDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 7499431
GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity TAS,IDA 19833728
GO:0005524 ATP binding IDA,IEA 16401071
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
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:
  • Pdk2 Pdk2<tm1Rhar>

Animal Model Products

  • Taconic Biosciences Mouse Models for PDK2

miRNA for PDK2 Gene

miRTarBase miRNAs that target PDK2

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDK2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
GO:0005967 mitochondrial pyruvate dehydrogenase complex ISS --
genes like me logo Genes that share ontologies with PDK2: view

Pathways & Interactions for PDK2 Gene

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

SIGNOR curated interactions for PDK2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA,TAS --
GO:0006111 regulation of gluconeogenesis ISS --
GO:0006468 protein phosphorylation IEA --
GO:0006885 regulation of pH ISS --
genes like me logo Genes that share ontologies with PDK2: view

Drugs & Compounds for PDK2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(2R)-N-{4-[Ethyl(phenyl)sulfamoyl]-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
CPI-613 Investigational Pharma PDH/α-KGDH inhibitor 0
AZD7545 Pharma PDHK inhibitor,potent and selective 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PDK2: view

Transcripts for PDK2 Gene

mRNA/cDNA for PDK2 Gene

Unigene Clusters for PDK2 Gene

Pyruvate dehydrogenase kinase, isozyme 2:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for PDK2 Gene



Protein tissue co-expression partners for PDK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDK2 Gene:

PDK2

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.

Evidence on tissue expression from TISSUES for PDK2 Gene

  • Nervous system(5)
  • Lung(4.5)
  • Liver(4.3)
  • Skin(4.2)
  • Kidney(3.7)
  • Muscle(3.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with PDK2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PDK2 34 33
  • 99.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDK2 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDK2 34 33
  • 94.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDK2 34 33
  • 93.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdk2 33
  • 91.97 (n)
mouse
(Mus musculus)
Mammalia Pdk2 16 34 33
  • 91.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDK2 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDK2 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdk4 33
  • 68.82 (n)
zebrafish
(Danio rerio)
Actinopterygii PDK2 (1 of 2) 34
  • 73 (a)
OneToMany
pdk2 34
  • 71 (a)
OneToMany
si:dkeyp-67g8.1 33
  • 70.02 (n)
zgc56209 33
fruit fly
(Drosophila melanogaster)
Insecta Pdk 34 35
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.5 35
  • 51 (a)
pdhk-2 34
  • 50 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3938 34
  • 46 (a)
OneToMany
Species where no ortholog for PDK2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PDK2: view image

Paralogs for PDK2 Gene

Paralogs for PDK2 Gene

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

  • PDK2_HUMAN
  • D6R983_HUMAN
  • D6RDN9_HUMAN
  • D6RGV8_HUMAN
  • D6RHG2_HUMAN
  • D6RJH7_HUMAN
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 Variation AA Info Type
rs17855787 A glioblastoma multiforme sample 50,109,341(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000183546 -- 50,098,680(+) C/T intron_variant
rs1000192711 -- 50,094,504(+) GGG/GG upstream_transcript_variant
rs1000296936 -- 50,102,677(+) G/A intron_variant
rs1000297765 -- 50,098,938(+) G/A intron_variant

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)

Additional Variant Information for PDK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PDK2 Gene

Disorders for PDK2 Gene

MalaCards: The human disease database

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

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

Additional Disease Information for PDK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KM (The Journal of biological chemistry 1995) 2 3 4 22 58
  2. Pivotal role of the C-terminal DW-motif in mediating inhibition of pyruvate dehydrogenase kinase 2 by dichloroacetate. (PMID: 19833728) Li J … Chuang DT (The Journal of biological chemistry 2009) 3 4 22 58
  3. Three members of the human pyruvate dehydrogenase kinase gene family are direct targets of the peroxisome proliferator-activated receptor beta/delta. (PMID: 17669420) Degenhardt T … Carlberg C (Journal of molecular biology 2007) 3 4 22 58
  4. Regulatory roles of the N-terminal domain based on crystal structures of human pyruvate dehydrogenase kinase 2 containing physiological and synthetic ligands. (PMID: 16401071) Knoechel TR … Brown DG (Biochemistry 2006) 3 4 22 58
  5. Ligand-induced effects on pyruvate dehydrogenase kinase isoform 2. (PMID: 16517984) Hiromasa Y … Roche TE (The Journal of biological chemistry 2006) 3 4 22 58

Products for PDK2 Gene

Sources for PDK2 Gene

Content
Loading form....