GNPDA2
Chr 4glucosamine-6-phosphate deaminase 2
Also known as: GNP2, SB52
The protein catalyzes the reversible conversion of glucosamine-6-phosphate to fructose-6-phosphate and ammonium, regulating UDP-N-acetylglucosamine biosynthesis through the hexosamine pathway and influencing hyaluronan synthesis during tissue remodeling. GNPDA2 variants have been associated with body mass index regulation and obesity susceptibility, though the gene shows low constraint to loss-of-function variation. The inheritance pattern and specific neurological phenotypes associated with pathogenic variants in this gene are not well-established in the current literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GNPDA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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