• Gene id: 5208

Gene Summary

• Gene Symbol: PFKFB2   Gene   UCSC   Ensembl
• Aliases: PFK-2/FBPase-2
• Gene name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
• Alternate names: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2, 6PF-2-K/Fru-2,6-P2ASE heart-type isozyme, 6PF-2-K/Fru-2,6-P2ase 2, PFK/FBPase 2, PFKFB, cardiac, fructose-2,6-bisphosphatase, cardiac isozyme,
• Gene location: 1q32.1 (207053062: 207081026)     Exons: 19     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the s
• OMIM: 171835

Protein Summary

• Protein general information: O60825  
  • Name: 6 phosphofructo 2 kinase/fructose 2,6 bisphosphatase 2 (6PF 2 K/Fru 2,6 P2ase 2) (PFK/FBPase 2) (6PF 2 K/Fru 2,6 P2ase heart type isozyme) [Includes: 6 phosphofructo 2 kinase (EC 2.7.1.105); Fructose 2,6 bisphosphatase (EC 3.1.3.46)]
  • Length: 505  
  • Mass: 58477
  • Tissue specificity: Heart.
• Sequence:

  MSGASSSEQNNNSYETKTPNLRMSEKKCSWASYMTNSPTLIVMIGLPARGKTYVSKKLTRYLNWIGVPTKVFNLG
  VYRREAVKSYKSYDFFRHDNEEAMKIRKQCALVALEDVKAYLTEENGQIAVFDATNTTRERRDMILNFAEQNSFK
  VFFVESVCDDPDVIAANILEVKVSSPDYPERNRENVMEDFLKRIECYKVTYRPLDPDNYDKDLSFIKVINVGQRF
  LVNRVQDYIQSKIVYYLMNIHVQPRTIYLCRHGESEFNLLGKIGGDSGLSVRGKQFAQALRKFLEEQEITDLKVW
  TSQLKRTIQTAESLGVPYEQWKILNEIDAGVCEEMTYAEIEKRYPEEFALRDQEKYLYRYPGGESYQDLVQRLEP
  VIMELERQGNVLVISHQAVMRCLLAYFLDKGADELPYLRCPLHTIFKLTPVAYGCKVETIKLNVEAVNTHRDKPT
  NNFPKNQTPVRMRRNSFTPLSSSNTIRRPRNYSVGSRPLKPLSPLRAQDMQEGAD

• Structural information:
  • Interpro: IPR003094  IPR013079  IPR013078  IPR029033  IPR027417   IPR001345  
  • Prosite: PS00175
  • CDD: cd07067
  • PDB: 5HTK
  • PDBsum: 5HTK
  • STRING: ENSP00000356047
• Other Databases: GeneCards:  PFKFB2  Malacards:  PFKFB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006003	fructose 2,6-bisphosphate metabolic process	IBA	biological process
GO:0003873	6-phosphofructo-2-kinase activity	IBA	molecular function
GO:0004331	fructose-2,6-bisphosphate 2-phosphatase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0003873	6-phosphofructo-2-kinase activity	IDA	molecular function
GO:0006096	glycolytic process	IDA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0003873	6-phosphofructo-2-kinase activity	IEA	molecular function
GO:0006000	fructose metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006003	fructose 2,6-bisphosphate metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0003873	6-phosphofructo-2-kinase activity	TAS	molecular function
GO:0006000	fructose metabolic process	TAS	biological process
GO:0003873	6-phosphofructo-2-kinase activity	IEA	molecular function
GO:0004331	fructose-2,6-bisphosphate 2-phosphatase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0045821	positive regulation of glycolytic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033133	positive regulation of glucokinase activity	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0019900	kinase binding	IEA	molecular function
GO:0006090	pyruvate metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0009749	response to glucose	IEA	biological process
GO:0006089	lactate metabolic process	IEA	biological process
GO:0006007	glucose catabolic process	IEA	biological process
GO:0004331	fructose-2,6-bisphosphate 2-phosphatase activity	IEA	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0046835	carbohydrate phosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04152	AMPK signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R