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PDK2 pyruvate dehydrogenase kinase 2 [ Homo sapiens (human) ]

Gene ID: 5164, updated on 8-Dec-2018

Summary

Official Symbol
PDK2provided by HGNC
Official Full Name
pyruvate dehydrogenase kinase 2provided by HGNC
Primary source
HGNC:HGNC:8810
See related
Ensembl:ENSG00000005882 MIM:602525
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDHK2; PDKII
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 32.6), heart (RPKM 32.6) and 24 other tissues See more
Orthologs

Genomic context

See PDK2 in Genome Data Viewer
Location:
17q21.33
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (50094737..50111369)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48172101..48188733)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene p53 inducible cancer associated RNA transcript 1 Neighboring gene integrin subunit alpha 3 Neighboring gene sterile alpha motif domain containing 14 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene uncharacterized LOC105371818 Neighboring gene sarcoglycan alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Pyruvate metabolism, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism, organism-specific biosystemPyruvate sits at an intersection of key pathways of energy metabolism. It is the end product of glycolysis and the starting point for gluconeogenesis, and can be generated by transamination of alanin...
  • Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem (from REACTOME)
    Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystemPyruvate metabolism and the citric acid (TCA) cycle together link the processes of energy metabolism in a human cell with one another and with key biosynthetic reactions. Pyruvate, derived from the r...
  • Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystem (from REACTOME)
    Regulation of pyruvate dehydrogenase (PDH) complex, organism-specific biosystemThe mitochondrial pyruvate dehydrogenase (PDH) complex catalyzes the oxidative decarboxylation of pyruvate, linking glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. PDH inactivati...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
    Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity EXP
Inferred from Experiment
more info
PubMed 
pyruvate dehydrogenase (acetyl-transferring) kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to nutrient ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to reactive oxygen species IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of acetyl-CoA biosynthetic process from pyruvate TAS
Traceable Author Statement
more info
 
regulation of calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular ketone metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of glucose metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of pH ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial pyruvate dehydrogenase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
pyruvate dehydrogenase kinase, isozyme 2
Names
PDH kinase 2
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial
pyruvate dehydrogenase kinase, isoenzyme 2
pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial
NP_001186827.1
NP_001186828.1
NP_001186829.1
NP_002602.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001199898.1NP_001186827.1  pyruvate dehydrogenase kinase, isozyme 2 isoform 2

    See identical proteins and their annotated locations for NP_001186827.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AK055119, BQ024783
    Consensus CDS
    CCDS56039.1
    UniProtKB/Swiss-Prot
    Q15119
    Related
    ENSP00000007708.3, ENST00000007708.7
    Conserved Domains (2) summary
    smart00387
    Location:178297
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:1128
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  2. NM_001199899.1NP_001186828.1  pyruvate dehydrogenase kinase, isozyme 2 isoform 2

    See identical proteins and their annotated locations for NP_001186828.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC002401, BC040478, BQ024783, DA199055
    Consensus CDS
    CCDS56039.1
    UniProtKB/Swiss-Prot
    Q15119
    Related
    ENSP00000481915.1, ENST00000614357.4
    Conserved Domains (2) summary
    smart00387
    Location:178297
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:1128
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  3. NM_001199900.1NP_001186829.1  pyruvate dehydrogenase kinase, isozyme 2 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001186829.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a splice site in the 3' coding region, compared to variant 1. This results in a shorter protein with a distinct C-terminus (isoform 3), compared to isoform 1.
    Source sequence(s)
    AC002401, AW302405, AW469593, BQ071206
    Conserved Domains (1) summary
    pfam10436
    Location:30172
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
  4. NM_002611.4NP_002602.2  pyruvate dehydrogenase kinase, isozyme 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002602.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC002401, BC040478, BQ024783
    Consensus CDS
    CCDS11559.1
    UniProtKB/Swiss-Prot
    Q15119
    Related
    ENSP00000420927.1, ENST00000503176.5
    Conserved Domains (2) summary
    smart00387
    Location:242361
    HATPase_c; Histidine kinase-like ATPases
    pfam10436
    Location:30192
    BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    50094737..50111369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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