• Gene id: 5210

Gene Summary

• Gene Symbol: PFKFB4   Gene   UCSC   Ensembl
• Gene name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
• Alternate names: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4, 6PF-2-K/Fru-2,6-P2ase 4, 6PF-2-K/Fru-2,6-P2ase testis-type isozyme, PFK/FBPase 4, bifunctional enzyme with kinase and biphosphatase activities,
• Gene location: 3p21.31 (48562382: 48517683)     Exons: 20     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypo
• OMIM: 605889

Protein Summary

• Protein general information: Q16877  
  • Name: 6 phosphofructo 2 kinase/fructose 2,6 bisphosphatase 4 (6PF 2 K/Fru 2,6 P2ase 4) (PFK/FBPase 4) (6PF 2 K/Fru 2,6 P2ase testis type isozyme) [Includes: 6 phosphofructo 2 kinase (EC 2.7.1.105); Fructose 2,6 bisphosphatase (EC 3.1.3.46)]
  • Length: 469  
  • Mass: 54040
• Sequence:

  MASPRELTQNPLKKIWMPYSNGRPALHACQRGVCMTNCPTLIVMVGLPARGKTYISKKLTRYLNWIGVPTREFNV
  GQYRRDVVKTYKSFEFFLPDNEEGLKIRKQCALAALRDVRRFLSEEGGHVAVFDATNTTRERRATIFNFGEQNGY
  KTFFVESICVDPEVIAANIVQVKLGSPDYVNRDSDEATEDFMRRIECYENSYESLDEDLDRDLSYIKIMDVGQSY
  VVNRVADHIQSRIVYYLMNIHVTPRSIYLCRHGESELNLKGRIGGDPGLSPRGREFAKSLAQFISDQNIKDLKVW
  TSQMKRTIQTAEALGVPYEQWKVLNEIDAGVCEEMTYEEIQDNYPLEFALRDQDKYRYRYPKGESYEDLVQRLEP
  VIMELERQENVLVICHQAVMRCLLAYFLDKAAEQLPYLKCPLHTVLKLTPVAYGCKVESIFLNVAAVNTHRDRPQ
  NVDISRPPEEALVTVPAHQ

• Structural information:
  • Interpro: IPR003094  IPR013079  IPR013078  IPR029033  IPR027417   IPR001345  
  • Prosite: PS00175
  • CDD: cd07067
  • STRING: ENSP00000232375
• Other Databases: GeneCards:  PFKFB4  Malacards:  PFKFB4

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	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:0016301	kinase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004331	fructose-2,6-bisphosphate 2-phosphatase activity	IEA	molecular function
GO:0003873	6-phosphofructo-2-kinase 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0003873	6-phosphofructo-2-kinase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04152	AMPK signaling pathway
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881