PDK2 pyruvate dehydrogenase kinase 2
Gene ID: 5164, updated on 2-Nov-2024Gene type: protein coding
Also known as: PDHK2; PDKII
- See all available tests in GTR for this gene
- Go to complete Gene record for PDK2
- Go to Variation Viewer for PDK2 variants
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]
Genomic context
- Location:
- 17q21.33
- Sequence:
- Chromosome: 17; NC_000017.11 (50094737..50112152)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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