PCK2 Chromosome 14
Phosphoenolpyruvate carboxykinase 2, mitochondrial
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What This Gene Does
This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]
Associated Conditions (17)
Gastric cancer
Thymoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Lung cancer
Familial cancer of breast
Phosphoenolpyruvate carboxykinase (GTP) deficiency
Clear cell carcinoma of kidney
Sarcoma
Phosphoenolpyruvate carboxykinase deficiency
mitochondrial
PCK2-related disorder
Malignant tumor of urinary bladder
Hepatocellular carcinoma
Key Variants
RS138881435
Conflicting classifications of pathogenicity
Gastric cancer, Thymoma, Malignant tumor of esophagus
Health Risk
RS141383988
Conflicting classifications of pathogenicity
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder
Health Risk
RS146890792
Conflicting classifications of pathogenicity
Health Risk
RS148019349
Conflicting classifications of pathogenicity
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder
Health Risk
RS61737098
Conflicting classifications of pathogenicity
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder
Health Risk
RS61752842
Conflicting classifications of pathogenicity
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, Phosphoenolpyruvate carboxykinase deficiency
Health Risk
RS1555341463
Likely pathogenic
Health Risk
RS1555341473
Likely pathogenic
Health Risk
RS1555341483
Likely pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138881435 | Health Risk | Conflicting classifications of pathogenicity | Gastric cancer, Thymoma, Malignant tumor of esophagus |
| RS141383988 | Health Risk | Conflicting classifications of pathogenicity | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder |
| RS146890792 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148019349 | Health Risk | Conflicting classifications of pathogenicity | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder |
| RS61737098 | Health Risk | Conflicting classifications of pathogenicity | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, PCK2-related disorder |
| RS61752842 | Health Risk | Conflicting classifications of pathogenicity | Phosphoenolpyruvate carboxykinase deficiency, mitochondrial, Phosphoenolpyruvate carboxykinase deficiency |
| RS1555341463 | Health Risk | Likely pathogenic | — |
| RS1555341473 | Health Risk | Likely pathogenic | — |
| RS1555341483 | Health Risk | Likely pathogenic | — |