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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
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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)
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