PFKFB3
Chr 106-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
Also known as: IPFK2, PFK2, iPFK-2
The protein catalyzes both the synthesis and degradation of fructose 2,6-bisphosphate, a key regulatory molecule controlling glycolysis and linking glucose metabolism to cell cycle progression. Mutations cause autosomal recessive glycogen storage disease type XII, which presents with hemolytic anemia, muscle weakness, and cardiac abnormalities. The gene shows moderate constraint to loss-of-function variation (LOEUF 0.447), consistent with its essential metabolic function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
136 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 65 | 12 | 0 | 77 |
Likely Benign | 0 | 0 | 0 | 2 | 2 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 65 | 39 | 3 | 107 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PFKFB3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools