Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 5164, updated on 8-Jul-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDK2 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (50094737..50112152)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48172101..48189516)

    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 Sharpr-MPRA regulatory region 5931

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular response to nutrient ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to reactive oxygen species IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular ketone metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of gluconeogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of glucose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial pyruvate dehydrogenase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001199898.2NP_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)
      AC002401, AK055119, BQ024783
      Consensus CDS
      CCDS56039.1
      UniProtKB/Swiss-Prot
      Q15119
      Related
      ENSP00000007708.3, ENST00000007708.7
      Conserved Domains (2) summary
      cd16929
      Location:132297
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:1128
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    2. NM_001199899.2NP_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
      cd16929
      Location:132297
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:1128
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    3. NM_001199900.2NP_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
      Related
      ENST00000505897.5
      Conserved Domains (1) summary
      pfam10436
      Location:30172
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
    4. NM_002611.5NP_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, ENST00000503176.6
      Conserved Domains (2) summary
      cd16929
      Location:196361
      HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains
      pfam10436
      Location:30192
      BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      50094737..50112152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center