Gene table of PFKM : phosphofructokinase, muscle

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PFKM	OMIM link	Number of associated genes	genes
232800	GLYCOGEN STORAGE DISEASE VII	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PFKM

Download the gene annotation in CSV format

Annotation of the gene PFKM

Associated genes in ENSEMBL

ENSG00000152556

Associated proteins - SwissProt Accession ID

P08237

Associated PDB IDs

4omt

Cytogenetic Band

12q13.11

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Carbon metabolism	hsa01200	6.03
Metabolic pathways	hsa01100	2.49
Pentose phosphate pathway	hsa00030	7.86
Central carbon metabolism in cancer	hsa05230	6.7
Galactose metabolism	hsa00052	7.72
Fructose and mannose metabolism	hsa00051	7.72
Biosynthesis of amino acids	hsa01230	6.58
Glycolysis / Gluconeogenesis	hsa00010	6.64
AMPK signaling pathway	hsa04152	5.8
RNA degradation	hsa03018	6.48

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Glycolysis	R-HSA-70171	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
protein C-terminus binding	GO:0008022	4.5
purine ribonucleoside triphosphate binding	GO:0035639	2.22
carbohydrate binding	GO:0030246	4.17
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
6-phosphofructokinase activity	GO:0003872	8.64
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
phosphofructokinase activity	GO:0008443	7.79
fructose binding	GO:0070061	8.13
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
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
ATP binding	GO:0005524	2.43
protein homodimerization activity	GO:0042803	3.16
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
kinase binding	GO:0019900	3.32
carbohydrate kinase activity	GO:0019200	6.74
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
catalytic activity	GO:0003824	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
monosaccharide binding	GO:0048029	5.85