InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PCK2

Summary

InnateDB Protein

IDBP-236345.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCK2

Protein Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

PEPCK; PEPCK-M; PEPCK2;

Species

Homo sapiens

Ensembl Protein

ENSP00000380171

InnateDB Gene

IDBG-3497 (PCK2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000250}.

Subcellular Localization

Mitochondrion.

Disease Associations

Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004611	phosphoenolpyruvate carboxykinase activity
GO:0004613	phosphoenolpyruvate carboxykinase (GTP) activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0017076	purine nucleotide binding
GO:0046872	metal ion binding