Gene Gene information from NCBI Gene database.
Entrez ID 5165
Gene name Pyruvate dehydrogenase kinase 3
Gene symbol PDK3
Synonyms (NCBI Gene)
CMTX6GS1-358P8.4
Chromosome X
Chromosome location Xp22.11
Summary The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cyc
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs138321172 A>G Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs397515323 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1616
miRTarBase ID miRNA Experiments Reference
MIRT708958 hsa-miR-181a-5p HITS-CLIP 19536157
MIRT708957 hsa-miR-181b-5p HITS-CLIP 19536157
MIRT708956 hsa-miR-181c-5p HITS-CLIP 19536157
MIRT708955 hsa-miR-181d-5p HITS-CLIP 19536157
MIRT708954 hsa-miR-4262 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 15861126
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IDA 11486000
GO:0004740 Function Pyruvate dehydrogenase (acetyl-transferring) kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300906 8811 ENSG00000067992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15120
Protein name [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 3)
Protein function Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in re
PDB 1Y8N , 1Y8O , 1Y8P , 2PNR , 2Q8I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10436 BCDHK_Adom3 26 188 Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase Family
PF02518 HATPase_c 236 362 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain. {ECO:0000269|PubMed:23297365}.
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Diabetic cardiomyopathy   Regulation of pyruvate dehydrogenase (PDH) complex
Signaling by Retinoic Acid
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease X-linked dominant 6 Pathogenic rs2518590189 RCV003129578
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
ClinVar, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37147361 Associate
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 23297365, 26801680, 27388934
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Charcot-Marie-Tooth Disease, X-Linked BEFREE 23297365, 26801680, 27388934
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Charcot-Marie-Tooth Disease, X-Linked UNIPROT_DG 23297365
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Charcot-Marie-Tooth Disease, X-Linked GENOMICS_ENGLAND_DG 23297365
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Charcot-Marie-Tooth Disease, X-Linked ORPHANET_DG 23297365
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 Charcot-Marie-Tooth Disease, X-Linked CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 31186744
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 30581339
★☆☆☆☆
Found in Text Mining only