• Gene id: 5164

Gene Summary

• Gene Symbol: PDK2   Gene   UCSC   Ensembl
• Aliases: PDHK2, PDKII
• Gene name: pyruvate dehydrogenase kinase 2
• Alternate names: pyruvate dehydrogenase kinase, isozyme 2, PDH kinase 2, [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial, pyruvate dehydrogenase kinase, isoenzyme 2, pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial,
• Gene location: 17q21.33 (50094736: 50112151)     Exons: 14     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 169730

Protein Summary

• Protein general information: Q15119  
  • Name: [Pyruvate dehydrogenase (acetyl transferring)] kinase isozyme 2, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 2) (PDH kinase 2) (PDKII)
  • Length: 407  
  • Mass: 46154
  • 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
• Sequence:

  MRWVWALLKNASLAGAPKYIEHFSKFSPSPLSMKQFLDFGSSNACEKTSFTFLRQELPVRLANIMKEINLLPDRV
  LSTPSVQLVQSWYVQSLLDIMEFLDKDPEDHRTLSQFTDALVTIRNRHNDVVPTMAQGVLEYKDTYGDDPVSNQN
  IQYFLDRFYLSRISIRMLINQHTLIFDGSTNPAHPKHIGSIDPNCNVSEVVKDAYDMAKLLCDKYYMASPDLEIQ
  EINAANSKQPIHMVYVPSHLYHMLFELFKNAMRATVESHESSLILPPIKVMVALGEEDLSIKMSDRGGGVPLRKI
  ERLFSYMYSTAPTPQPGTGGTPLAGFGYGLPISRLYAKYFQGDLQLFSMEGFGTDAVIYLKALSTDSVERLPVYN
  KSAWRHYQTIQEAGDWCVPSTEPKNTSTYRVS

• Structural information:
  • Protein Domains: (135..36-)
    (/note="Histidine-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00107"-)
  • Interpro: IPR036784  IPR018955  IPR039028  IPR003594  IPR036890   IPR005467  
  • Prosite: PS50109
  • PDB: 2BTZ 2BU2 2BU5 2BU6 2BU7 2BU8 4MP2 4MP7 4MPC 4MPE 4MPN 4V25 4V26 5J6A 5J71 5M4K 5M4M 5M4N 5M4P
  • PDBsum: 2BTZ 2BU2 2BU5 2BU6 2BU7 2BU8 4MP2 4MP7 4MPC 4MPE 4MPN 4V25 4V26 5J6A 5J71 5M4K 5M4M 5M4N 5M4P
  • STRING: ENSP00000420927
• Other Databases: GeneCards:  PDK2  Malacards:  PDK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0042593	glucose homeostasis	IBA	biological process
GO:1904183	negative regulation of pyruvate dehydrogenase activity	IBA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA	molecular function
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042593	glucose homeostasis	ISS	biological process
GO:0034614	cellular response to reactive oxygen species	IMP	biological process
GO:0008286	insulin receptor signaling pathway	ISS	biological process
GO:0031670	cellular response to nutrient	ISS	biological process
GO:0010906	regulation of glucose metabolic process	ISS	biological process
GO:0010565	regulation of cellular ketone metabolic process	ISS	biological process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	ISS	biological process
GO:0006885	regulation of pH	ISS	biological process
GO:0006111	regulation of gluconeogenesis	ISS	biological process
GO:0005967	mitochondrial pyruvate dehydrogenase complex	ISS	cellular component
GO:0004672	protein kinase activity	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	TAS	molecular function
GO:0006006	glucose metabolic process	TAS	biological process
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0050848	regulation of calcium-mediated signaling	IEA	biological process
GO:0031670	cellular response to nutrient	IEA	biological process
GO:0010906	regulation of glucose metabolic process	IEA	biological process
GO:0010565	regulation of cellular ketone metabolic process	IEA	biological process
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	IEA	biological process
GO:0006885	regulation of pH	IEA	biological process
GO:0006111	regulation of gluconeogenesis	IEA	biological process
GO:0005967	mitochondrial pyruvate dehydrogenase complex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004740	pyruvate dehydrogenase (acetyl-transferring) kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq