PCK2

Chr 14q11.2-q12

phosphoenolpyruvate carboxykinase 2, mitochondrial

Aliases:: PEPCK, PEPCK2
MANE:: ENST00000216780.9

OMIM: 614095 ↗NCBI: 5106 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PCK2 · Q16822

v62025-08-01

Predicted Aligned Error matrix for PCK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

640 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)5%
Low(50–70)0%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

phosphoenolpyruvate carboxykinase deficiency, mitochondrial
0.47
phosphoenolpyruvate carboxykinase deficiency
0.44
peripheral neuropathy
0.19
Gait disturbance
0.18
retinitis pigmentosa
0.15
sialadenitis
0.13
hepatocellular carcinoma
0.10
non-small cell lung carcinoma
0.09
neoplasm
0.09
renal cell carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphoenolpyruvate carboxykinase [GTP], mitochondrial

Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (PubMed:28955899). Can play an active role in glyceroneogenesis and gluconeogenesis (PubMed:28955899). Also acts as a serine/threonine-protein kinase: phosphorylates and activates ACSL4, thereby promoting ferroptosis (PubMed:38720107)