PDP2 Gene (Pyruvate Dehydrogenase Phosphatase 2)
A key regulator of the pyruvate dehydrogenase complex, linking glycolysis to the TCA cycle.
Gene Information Card
| Symbol | PDP2 |
|---|---|
| Full Name | Pyruvate Dehydrogenase Phosphatase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 57546 ncbi.nlm.nih.gov/gene/57546 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9P2J9 |
| OMIM ID | 614420 |
| HGNC ID | 30217 |
| Aliases | PDP2, PDP2c, PDP2c1 |
Description
PDP2 encodes the catalytic subunit of pyruvate dehydrogenase phosphatase, a mitochondrial enzyme that dephosphorylates and activates the pyruvate dehydrogenase complex (PDC). This activation is essential for converting pyruvate to acetyl-CoA, linking glycolysis to the tricarboxylic acid (TCA) cycle. PDP2 is primarily expressed in tissues with high energy demands, such as heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate Dehydrogenase Deficiency | Loss-of-function mutations in PDP2 impair PDC reactivation, leading to lactic acidosis and neurological deficits. | ClinVar, OMIM |
| Primary Lactic Acidosis | Defective PDP2 activity reduces pyruvate flux into the TCA cycle, causing accumulation of lactate. | OMIM |
| Mitochondrial Complex I Deficiency | Indirect association via disrupted mitochondrial energy metabolism. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.3 | Medium |
| Liver | 6.8 | Low |
| Kidney | 5.4 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.1 | Hepatocellular carcinoma |
| K562 | 6.5 | Leukemia |
| HeLa | 5.9 | Cervical carcinoma |
| A549 | 4.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Reduced phosphatase activity; associated with lactic acidosis. |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Impaired PDC reactivation; reported in pyruvate dehydrogenase deficiency. |
| c.502_503del (p.Leu168fs) | Frameshift | <0.01% | Loss of function; truncation of catalytic domain. |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish PDP2 phosphatase activity, impairing PDC reactivation and leading to metabolic acidosis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pyruvate metabolism (Reactome: R-HSA-70268)
• Citric acid cycle (TCA cycle) (Reactome: R-HSA-71403)
• Regulation of pyruvate dehydrogenase complex (Reactome: R-HSA-204174)
Protein Summary
PDP2 is a mitochondrial protein of 521 amino acids that functions as a serine/threonine phosphatase. It dephosphorylates and activates the E1 alpha subunit of the pyruvate dehydrogenase complex, thereby promoting the conversion of pyruvate to acetyl-CoA. The protein contains a catalytic domain and a mitochondrial targeting sequence. PDP2 is highly expressed in oxidative tissues and is critical for maintaining metabolic flux under energy-demanding conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDP2 Knockout HEK293 Cell Line | EDJ-KQ14718 | Human | 57546 | Details Get a Quote |
| PDP2 Knockout A-549 Cell Line | EDJ-KQ45042 | Human | 57546 | Details Get a Quote |
| PDP2 Knockout HCT 116 Cell Line | EDJ-KQ45043 | Human | 57546 | Details Get a Quote |
| PDP2 Knockout HeLa Cell Line | EDJ-KQ45044 | Human | 57546 | Details Get a Quote |
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