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

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; AllianceGenome:HGNC:8810
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: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50094737..50112152)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50961834..50979254)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48172101..48189516)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA hsa_circ_0005397 promotes hepatocellular carcinoma progression by regulating the miR-326/PDK2 axis.
Title: Circular RNA hsa_circ_0005397 promotes hepatocellular carcinoma progression by regulating the miR-326/PDK2 axis.
PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma.
Title: PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma.
Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia.
Title: Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia.
[Expression Level of Protein Kinase D in Oral Squamous Cell Carcinoma with Diverse Differentiation].
Title: [Expression Level of Protein Kinase D in Oral Squamous Cell Carcinoma with Diverse Differentiation].
we identified PDK2 as the most up-regulated kinase encoding gene in Cisplatin resistant lung adenocarcinoma and PDK2-dependent Cisplatin-resistance promotes tumour growth of lung adenocarcinoma mainly through transcriptional regulation of CNNM3
Title: PDK2 induces cisplatin-resistance in lung adenocarcinoma via transcriptional regulation of CNNM3.
MiR-422a regulates cellular metabolism and malignancy by targeting PDK2 in gastric cancer.
Title: MiR-422a regulates cellular metabolism and malignancy by targeting pyruvate dehydrogenase kinase 2 in gastric cancer.
PDK2/PARL senses defects in mitochondrial bioenergetics.
Title: The Mitochondrial Rhomboid Protease PARL Is Regulated by PDK2 to Integrate Mitochondrial Quality Control and Metabolism.
The data demonstrate potential roles of PDK2 and ABCG2 polymorphisms in the metabolic phenotypes of Tibetan gout patients.
Title: PDK2 and ABCG2 genes polymorphisms are correlated with blood glucose levels and uric acid in Tibetan gout patients.
High glycolysis and PDK2 overexpression are closely linked to cisplatin resistance in head and neck cancer cells, which can be reversed by PDK2 nhibition.
Title: Activation of mitochondrial oxidation by PDK2 inhibition reverses cisplatin resistance in head and neck cancer.
both PDK 1 and 2 isoforms are overexpressed in cutaneous melanoma compared to nevi, this expression being associated with the expression of the mTOR pathway effectors and independent of the BRAF mutational status
Title: Overexpression of pyruvate dehydrogenase kinase supports dichloroacetate as a candidate for cutaneous melanoma therapy.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20548 (e-PCR)
- UniSTS:20755

A005W12 (e-PCR)
- UniSTS:20756

MARC_7915-7916:996688163:1 (e-PCR)
- UniSTS:269854

IB663 (e-PCR)
- UniSTS:10530

D17S1781 (e-PCR)
- UniSTS:154214

RH11762 (e-PCR)
- UniSTS:76420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IDA Inferred from Direct Assay more info	PubMed

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	TAS Traceable Author Statement more info	PubMed
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 regulation of acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of acetyl-CoA biosynthetic process from pyruvate	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation 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
involved_in regulation of glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ketone 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
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of pyruvate dehydrogenase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

EC 2.7.11.2

NP_001186828.1

EC 2.7.11.2

NP_001186829.1

EC 2.7.11.2

NP_002602.2

EC 2.7.11.2

NCBI Reference Sequences (RefSeq)

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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)

NM_001199898.2 → NP_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/TrEMBL

B4DLP2

Related

ENSP00000007708.3, ENST00000007708.7

Conserved Domains (2) summary

cd16929
Location:132 → 297

HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains

pfam10436
Location:1 → 128

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
NM_001199899.2 → NP_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/TrEMBL

B4DLP2

Related

ENSP00000481915.1, ENST00000614357.4

Conserved Domains (2) summary

cd16929
Location:132 → 297

HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains

pfam10436
Location:1 → 128

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
NM_001199900.2 → NP_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:30 → 172

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase
NM_002611.5 → NP_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

A8K3A7, B3KNW0, Q15119, Q6P515, Q9BS05

UniProtKB/TrEMBL

B4DLP2

Related

ENSP00000420927.1, ENST00000503176.6

Conserved Domains (2) summary

cd16929
Location:196 → 361

HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains

pfam10436
Location:30 → 192

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase