PCK2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PCK2 |
| Official Name | phosphoenolpyruvate carboxykinase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:8725] |
| Ensembl ID | ENSG00000100889 |
| Bio databases IDs | |
| Aliases | phosphoenolpyruvate carboxykinase 2, mitochondrial |
| Synonyms | 1810010O14Rik, 9130022B02RIK, LOC102553612, mtPCK2, PEPCK, PEPCK2, PEPCK-M, phosphoenolpyruvate carboxykinase 2 (mitochondrial), phosphoenolpyruvate carboxykinase 2, mitochondrial |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PCK2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- phosphoenolpyruvate carboxykinase (GTP)
- Phosphoenolpyruvate carboxykinase N-terminal domain
- PEPCK_HprK
- phosphoenolpyruvate carboxykinase
- protein binding
- Phosphoenolpyruvate carboxykinase C-terminal P-loop domain
- enzyme
- manganese ion binding
Pathways
Biological processes and signaling networks where the PCK2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal cancer
- epithelial cancer
- liver cancer
- androgenic alopecia
- Sengers syndrome
- hepatocellular carcinoma
- organismal death
- osteoarthritis
- mitochondrial pepck deficiency
regulates
- oxalacetic acid
- lactic acid
- triacylglycerol
- glutamine
- flavin mononucleotide
- agar
- MIC
- insulin
- glycogen
- pyruvic acid
role in cell
- proliferation
- cell death
- accumulation in
- apoptosis
- growth
- migration
- expression in
- invasion by
- gluconeogenesis in
- utilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCK2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- response to starvation
- NADH oxidation
- glycerol biosynthetic process from pyruvate
- cellular response to insulin stimulus
- oxaloacetate metabolic process
- hepatocyte differentiation
- cellular response to glucose stimulus
- cellular response to tumor necrosis factor
- response to lipopolysaccharide
- positive regulation of insulin secretion
- propionate catabolic process
- cellular response to dexamethasone stimulus
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- GTP binding
- phosphoenolpyruvate carboxykinase activity
- phosphoenolpyruvate carboxykinase (GTP) activity
- protein binding
- manganese ion binding