phosphoenolpyruvate carboxykinase 2, mitochondrial

Summary
Gene Symbol
  • PCK2
Aliases
  • PEPCK
  • PEPCK2
Organism
Homo sapiens (human)
External Links
NCBI Gene
5106
HGNC
8725
KEGG Gene ID
hsa:5106
PubChem
5106
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Alternative splicing
  • Decarboxylase
  • Disease variant
  • GTP-binding
  • Gluconeogenesis
  • Kinase
  • Manganese
  • Metal-binding
  • Mitochondrion
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
Q16822
  • Phosphoenolpyruvate carboxykinase 2, mitochondrial
A0A384MTT2
Gene Ontology (GO)
Displaying entries 11 - 13 of 13 in total
GO Term Evidence Code PMID
positive regulation of insulin secretion
cellular response to glucose stimulus
gluconeogenesis
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000100889

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01596
Name
phosphoenolpyruvate carboxykinase (GTP) [EC:4.1.1.32]
References
Disease
Disease Ontology
Displaying entries 31 - 38 of 38 in total
DO ID Disease Name Source
DOID:686 liver carcinoma
DOID:8923 skin melanoma
DOID:934 viral infectious disease
DOID:9351 diabetes mellitus
DOID:9352 type 2 diabetes mellitus
DOID:9452 steatotic liver disease
DOID:9970 obesity
DOID:9993 hypoglycemia
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000799 Renal steatosis
HP:0001397 Hepatic steatosis
HP:0001399 Hepatic failure
HP:0001943 Hypoglycemia
HP:0005959 Impaired gluconeogenesis
Displaying 1 entry
Disease ID Disease Name
OMIM:261650
  • phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Ortholog
Displaying entries 61 - 62 of 62 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
103739439 NANGA14732
103272256 CARSF16279

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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