Gene table of PCK2 : phosphoenolpyruvate carboxykinase 2, mitochondrial

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PCK2	OMIM link	Number of associated genes	genes
261650	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL	OMIM	link to OMIM	1	PCK2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Proximal tubule bicarbonate reclamation	hsa04964	8.24
Pyruvate metabolism	hsa00620	7.45
Adipocytokine signaling pathway	hsa04920	6.6
Metabolic pathways	hsa01100	2.49
PPAR signaling pathway	hsa03320	6.56
Insulin signaling pathway	hsa04910	5.55
FoxO signaling pathway	hsa04068	5.63
Glycolysis / Gluconeogenesis	hsa00010	6.64
AMPK signaling pathway	hsa04152	5.8
Citrate cycle (TCA cycle)	hsa00020	7.86
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gluconeogenesis	R-HSA-70263	8.03
Metabolism	R-HSA-1430728	2.34
Metabolism of carbohydrates	R-HSA-71387	4.93
Glucose metabolism	R-HSA-70326	6.77

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
lyase activity	GO:0016829	4.53
transferase activity	GO:0016740	1.95
ion binding	GO:0043167	1.36
phosphoenolpyruvate carboxykinase (GTP) activity	GO:0004613	9.05
guanyl ribonucleotide binding	GO:0032561	3.73
phosphoenolpyruvate carboxykinase activity	GO:0004611	9.05
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
GTP binding	GO:0005525	3.78
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
carbon-carbon lyase activity	GO:0016830	5.81
carboxy-lyase activity	GO:0016831	6.15
guanyl nucleotide binding	GO:0019001	3.73
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19