Gene
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
- HGNC 8725↗(opens in a new tab)
- Ensembl gene ENSG00000100889↗(opens in a new tab)
- NCBI Gene 5106↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q11.2-q12
- Coordinates
- Chromosome 14: 24,094,311–24,104,125 (GRCh38)
- Exons
- 10 exons across 9.8 kb
- Protein
- 640 amino acids
- Also known as
- PEPCK, PEPCK2
- MANE Select transcript
- ENST00000216780.9NM_004563.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PCK2 yet. The test sequences your whole genome, so your data includes it all the same.
How PCK2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 9.8 kb; 1,923 of those bases code for the protein.
How a genome test reads PCK2
3
positions in PCK2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 9.8 kb of PCK2, introns included, not only the 2.2 kb of exons.
Traits linked to PCK2
The Human Phenotype Ontology lists these as features of the rare conditions PCK2 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Recurrent low blood sugar levels
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Elevated urine fumaric acid level
- High plasma glutamine
- High urine lactic acid levels
- Higher than normal levels of lactate in blood
- Hypoglycemic seizures
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PCK2 gene: phosphoenolpyruvate carboxykinase 2, mitochondrial. Retrieved 17 October 2026, from https://dantelabs.com/genes/pck2
Dante Labs. PCK2 gene: phosphoenolpyruvate carboxykinase 2, mitochondrial [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pck2
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