FBP2
Chr 9fructose-bisphosphatase 2
Also known as: CORLK
This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtLeukodystrophy, childhood-onset, remitting
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.99LOEUF
pLI 0.000
Z-score 1.59
OE 0.55 (0.32–0.99)
Typical tolerance to LoF variation
Missense Constraint?
0.19Z-score
OE missense 0.96 (0.86–1.08)
201 obs / 208.7 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.55 (0.32–0.99)
0≤0.351.4
Missense OE?0.96 (0.86–1.08)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 8 / 14.5Missense obs/exp: 201 / 208.7Syn Z: 0.03
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FBP2 · 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