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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GNPDA2
glucosamine-6-phosphate deaminase 2
Chromosome 4 · 4p12
NCBI Gene: 132789Ensembl: ENSG00000163281.13HGNC: HGNC:21526UniProt: Q8TDQ7
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingUDP-N-acetylglucosamine biosynthetic processglucosamine-6-phosphate deaminase activitynucleusinfantile spasmstype 2 diabetes mellitusobesityAbnormality of the skeletal system
✦AI Summary

GNPDA2 (glucosamine-6-phosphate deaminase 2) is an enzyme that catalyzes the reversible conversion of glucosamine-6-phosphate to fructose-6-phosphate in the hexosamine biosynthesis pathway, playing a crucial role in metabolic regulation. The enzyme functions as a key regulatory node connecting glucose and amino sugar metabolism, with high expression levels in hypothalamus and adipose tissue 1. GNPDA2 significantly impacts adipogenesis and lipid metabolism, as overexpression enhances lipid droplet accumulation while knockdown decreases it, affecting genes involved in thermogenesis, PPAR signaling, and fatty acid metabolism 2. The gene responds to nutritional status, with expression decreasing during fasting in hypothalamus and increasing in adipose tissue under high-glucose-fat diet conditions 3. Central nervous system GNPDA2 does not control appetite but regulates glucose homeostasis, as its inhibition results in glucose intolerance 1. Genetic variants in GNPDA2, particularly rs10938397, are consistently associated with obesity risk and body mass index across multiple populations including Japanese and Chinese cohorts 45. Recent evidence suggests GNPDA2 may also be involved in neurodegenerative processes, with elevated serum levels observed in multiple neurological proteinopathies including Alzheimer's disease 6.

Sources cited
1
GNPDA2 is highly expressed in hypothalamus and adipose tissue and regulates glucose homeostasis but not appetite
PMID: 34912841
2
GNPDA2 overexpression enhances lipid droplet accumulation and affects genes involved in lipid and glucose metabolism
PMID: 31467530
3
GNPDA2 expression responds to nutritional status, decreasing during fasting and increasing with high-glucose-fat diet
PMID: 27326383
4
GNPDA2 genetic variants are associated with obesity risk in Japanese population
PMID: 19851340
5
GNPDA2 variants are associated with increased BMI and obesity risk in Chinese populations
PMID: 20215397
6
GNPDA2 serum levels are elevated in multiple neurological proteinopathies including Alzheimer's disease
PMID: 38672412
Disease Associationsⓘ20
infantile spasmsOpen Targets
0.43Moderate
type 2 diabetes mellitusOpen Targets
0.33Weak
obesityOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
heart failureOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.30Weak
obstructive sleep apneaOpen Targets
0.28Weak
thyroid cancerOpen Targets
0.27Weak
coronary artery diseaseOpen Targets
0.27Weak
atrial fibrillationOpen Targets
0.27Weak
overnutritionOpen Targets
0.26Weak
smoking behaviorOpen Targets
0.25Weak
insomniaOpen Targets
0.25Weak
type 2 diabetes nephropathyOpen Targets
0.25Weak
hypertensionOpen Targets
0.25Weak
morbid obesityOpen Targets
0.25Weak
diabetic eye diseaseOpen Targets
0.25Weak
diabetic neuropathyOpen Targets
0.25Weak
smoking initiationOpen Targets
0.24Weak
essential hypertensionOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPIProtein interaction96%MPIProtein interaction96%GFPT1Protein interaction96%HK1Protein interaction96%HK2Protein interaction96%HK3Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Brain
90%
Bone Marrow
76%
Ovary
68%
Lung
35%
Liver
17%
Gene Interaction Network
Click a node to explore
GNPDA2GPIMPIGFPT1HK1HK2HK3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TDQ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.56–1.41]
RankingsWhere GNPDA2 stands among ~20K protein-coding genes
  • #7,267of 20,598
    Most Researched64
  • #14,546of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedGNPDA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 31467530
Int J Endocrinol · 2019
1.00
2
Identification, expression and variation of the GNPDA2 gene, and its association with body weight and fatness traits in chicken.
PMID: 27326383
PeerJ · 2016
0.90
3
CNS GNPDA2 Does Not Control Appetite, but Regulates Glucose Homeostasis.
PMID: 34912841
Front Nutr · 2021
0.80
4
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.
PMID: 19851340
J Hum Genet · 2009
0.70
5
Involvement of Glucosamine 6 Phosphate Isomerase 2 (GNPDA2) Overproduction in β-Amyloid- and Tau P301L-Driven Pathomechanisms.
PMID: 38672412
Biomolecules · 2024
0.60