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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PFKFB2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Chromosome 1 · 1q32.1
NCBI Gene: 5208Ensembl: ENSG00000123836.16HGNC: HGNC:8873UniProt: B0FLL2
92PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase bindingfructose 2,6-bisphosphate metabolic processnucleoplasmprotein bindingatrial fibrillationsmoking initiationneurodegenerative diseaseacute lymphoblastic leukemia
✦AI Summary

PFKFB2 (6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2) is a bifunctional enzyme that catalyzes synthesis and degradation of fructose-2,6-bisphosphate (F-2,6-BP), a critical allosteric activator of phosphofructokinase-1 and key regulator of glycolysis 1. The 505-amino acid heart isoform protein retains important regulatory and catalytic sites conserved across mammalian species 1. PFKFB2 function extends beyond basic glycolytic regulation to encompass immune cell metabolism and disease pathogenesis. HIF-1α directly transactivates PFKFB2 to promote glycolysis-driven dendritic cell maturation and exacerbate acute lung injury 2. Similarly, Pim2 kinase phosphorylates PFKFB2 at serine 466 to enhance M1 macrophage polarization in inflammatory arthritis 3. In cancer metabolism, PFKFB2 supports glioblastoma growth by fueling glucose-derived serine biosynthesis under nutrient stress 4. PFKFB2 dysregulation associates with multiple disease states: chr1 kidney disease 5, heart failure pathogenesis 6, and ERBB2-driven breast cancer susceptibility 7. The complex, context-dependent roles of PFKFB2 in metabolic reprogramming across immune and cancer cells highlight its emerging therapeutic potential 8.

Sources cited
1
PFKFB2 is a bifunctional enzyme catalyzing F-2,6-BP synthesis/degradation; human heart isoform contains 505 amino acids with conserved regulatory and catalytic sites
PMID: 9652401
2
HIF-1α directly binds PFKFB2 promoter and drives transcription; PFKFB2-enhanced glycolysis promotes dendritic cell maturation and exacerbates acute lung injury
PMID: 40736063
3
Pim2 kinase directly phosphorylates PFKFB2 at serine 466 to promote glycolytic reprogramming and M1 macrophage polarization in inflammatory arthritis
PMID: 40000906
4
HIF-1α-induced PFKFB2 expression promotes glycolysis to fuel serine biosynthesis pathway and support glioblastoma cell proliferation under nutrient stress
PMID: 38098117
5
PFKFB2 identified as candidate therapeutic target for chronic kidney disease through multi-omics proteome-transcriptome integration
PMID: 38898508
6
PFKFB2 identified as novel contributor to heart failure pathogenesis through spatial transcriptomic analysis of cardiomyopathy
PMID: 40335066
7
Pfkfb2 SNPs associated with ERBB2-driven mammary tumor susceptibility; human ortholog included in tumor susceptibility gene signature predicting breast cancer prognosis
PMID: 39067134
8
PFKFB2 plays complex, multifaceted roles in tumor metabolism, cell migration, invasion, and immune response; reviewed as emerging cancer therapy target
PMID: 40538377
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.51Moderate
smoking initiationOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.20Weak
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
intestinal infectious diseaseOpen Targets
0.06Suggestive
lung cancerOpen Targets
0.06Suggestive
brain gliomaOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
osteosarcomaOpen Targets
0.05Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.04Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
Dent diseaseOpen Targets
0.04Suggestive
Dent disease type 1Open Targets
0.04Suggestive
chronic myeloproliferative disorderOpen Targets
0.04Suggestive
karyomegalic interstitial nephritisOpen Targets
0.04Suggestive
WHIM syndrome 2Open Targets
0.04Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.04Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PFKFB3Protein interaction98%PFKFB4Protein interaction98%PFKMProtein interaction98%HK2Protein interaction97%MPIProtein interaction97%TIGARProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
76%
Lung
33%
Bone Marrow
27%
Ovary
8%
Liver
6%
Gene Interaction Network
Click a node to explore
PFKFB2PFKFB3PFKFB4PFKMHK2MPITIGAR
PROTEIN STRUCTURE
Preparing viewer…
PDB5HTK · 2.01 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.60–0.99]
RankingsWhere PFKFB2 stands among ~20K protein-coding genes
  • #5,209of 20,598
    Most Researched92
  • #9,513of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedPFKFB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med · 2024
1.00
2
Targeting macrophage polarization by inhibiting Pim2 alleviates inflammatory arthritis via metabolic reprogramming.
PMID: 40000906
Cell Mol Immunol · 2025
0.90
3
Spatial transcriptional landscape of human heart failure.
PMID: 40335066
Eur Heart J · 2025
0.80
4
PFKFB2-Driven Glycolysis Promotes Dendritic Cell Maturation and Exacerbates Acute Lung Injury.
PMID: 40736063
Adv Sci (Weinh) · 2025
0.70
5
AMPK-HIF-1α signaling enhances glucose-derived de novo serine biosynthesis to promote glioblastoma growth.
PMID: 38098117
J Exp Clin Cancer Res · 2023
0.60