PFKFB2
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2
Gene Information Card
| Symbol | PFKFB2 |
|---|---|
| Full Name | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5208 ncbi.nlm.nih.gov/gene/5208 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | O60825 |
| OMIM ID | 603731 |
| HGNC ID | 8873 |
| Aliases | PFK-2/FBPase-2, 6PF-2-K/Fru-2,6-P2ASE |
Description
PFKFB2 encodes a bifunctional enzyme that synthesizes and degrades fructose-2,6-bisphosphate, a key allosteric regulator of glycolysis. The enzyme has both 6-phosphofructo-2-kinase and fructose-2,6-bisphosphatase activities. PFKFB2 is expressed in various tissues, including heart, brain, and skeletal muscle, and plays a critical role in metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Altered PFKFB2 expression may affect myocardial glycolysis and energy metabolism under ischemic conditions. | PMID: 25635004 |
| Type 2 diabetes | PFKFB2 variants may influence insulin sensitivity and glucose homeostasis via modulation of hepatic glycolysis. | PMID: 23543773 |
| Cancer (various) | Overexpression of PFKFB2 in certain tumors promotes aerobic glycolysis (Warburg effect) and cell proliferation. | PMID: 29262375 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Brain | 8.3 | Medium |
| Skeletal muscle | 7.1 | Medium |
| Liver | 4.2 | Low |
| Kidney | 5.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 7.8 | Medium expression |
| HepG2 | 6.1 | Medium expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | <0.01% | Unknown functional effect |
| c.157C>T (p.Arg53Trp) | Missense | <0.01% | Potential loss of kinase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce kinase activity may impair glycolytic flux and energy production.
Gain of Function (GOF)
Gain-of-function mutations are rare but could enhance glycolysis and promote tumor growth.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PFKFB2.
View complete mutation data：
Gene Ontology (GO)
| • 6-phosphofructo-2-kinase activity | • fructose-2 |
| • 6-bisphosphate 2-phosphatase activity | • ATP binding |
| • glycolytic process | • fructose 2 |
| • 6-bisphosphate metabolic process | • regulation of glycolysis |
Pathways
• Glycolysis / Gluconeogenesis
• Fructose and mannose metabolism
• AMPK signaling pathway
Protein Summary
PFKFB2 is a bifunctional enzyme that controls the cellular level of fructose-2,6-bisphosphate, a potent allosteric activator of phosphofructokinase-1 (PFK-1). It consists of an N-terminal kinase domain and a C-terminal phosphatase domain. The enzyme is regulated by phosphorylation and plays a key role in adapting glycolytic flux to metabolic demands.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFKFB2 Knockout HEK293 Cell Line | EDJ-KQ1041 | Human | 5208 | Details Get a Quote |
| PFKFB2 Knockout HCT 116 Cell Line | EDJ-KQ20146 | Human | 5208 | Details Get a Quote |
| PFKFB2 Knockout HeLa Cell Line | EDJ-KQ20147 | Human | 5208 | Details Get a Quote |
| PFKFB2 Knockout A-549 Cell Line | EDJ-KQ18804 | Human | 5208 | Details Get a Quote |
