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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PGM2
phosphoglucomutase 2
Chromosome 4 · 4p14
NCBI Gene: 55276Ensembl: ENSG00000169299.15HGNC: HGNC:8906UniProt: Q96G03
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphopentomutase activityphosphoglucomutase activityextracellular exosomecytosolCerebral degenerationmalignant renal pelvis neoplasmSubdural hemorrhagerespiratory system disease
✦AI Summary

PGM2 (phosphoglucomutase 2) is a cytosolic enzyme that catalyzes the reversible conversion of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate via the intermediate alpha-D-glucose 1,6-bisphosphate 1. PGM2 also converts nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to corresponding 5-phosphopentoses, participating in purine ribonucleoside salvage 1. Unlike PGM1, PGM2 is uniquely inhibited by ribose monophosphates and displays phosphoribomutase activity, reflecting its specialized role in nucleotide metabolism 2. PGM2 is essential for galactose utilization; mutations causing PGM2 truncation severely impair galactose metabolism in yeast, demonstrating its critical function in carbohydrate metabolism 3. Clinically, PGM2 upregulation correlates with poor prognosis in lung adenocarcinoma, associating with advanced TNM stage, high-grade malignancy, unfavorable overall survival (HR=1.54), disease-specific survival (HR=1.77), and reduced immune cell infiltration 4. PGM2 variants are also associated with childhood-onset asthma through genome-wide sequencing analysis 5. Additionally, environmental exposures affecting PGM2 expression may disrupt hepatic metabolic homeostasis and glucose metabolism 6. These findings establish PGM2 as both a fundamental metabolic enzyme and an emerging biomarker for disease prognosis.

Sources cited
1
PGM2 catalyzes conversion of glucose 1-phosphate to glucose 6-phosphate and nucleoside breakdown products to 5-phosphopentoses
PMID: 17804405
2
PGM2 is uniquely inhibited by ribose monophosphates and displays phosphoribomutase activity distinct from PGM1
PMID: 6240990
3
PGM2 mutations impair galactose utilization, demonstrating its critical role in carbohydrate metabolism
PMID: 29523547
4
PGM2 upregulation in lung adenocarcinoma associates with advanced TNM stage, poor survival outcomes, and reduced immune infiltration
PMID: 36245582
5
PGM2 variants are associated with childhood-onset asthma in whole-genome sequencing studies
PMID: 36255742
6
Environmental exposures can increase PGM2 expression, affecting glucose metabolism and metabolic homeostasis
PMID: 35358527
Disease Associationsⓘ20
Cerebral degenerationOpen Targets
0.29Weak
malignant renal pelvis neoplasmOpen Targets
0.26Weak
Subdural hemorrhageOpen Targets
0.26Weak
respiratory system diseaseOpen Targets
0.24Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
Genu varumOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
esophageal cancerOpen Targets
0.03Suggestive
Genu valgumOpen Targets
0.02Suggestive
dilated cardiomyopathyOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
childhood onset asthmaOpen Targets
0.01Suggestive
chronic lymphocytic leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AK2Protein interaction99%ADPGKProtein interaction98%G6PC1Protein interaction97%GCKProtein interaction97%UGP2Protein interaction97%RBKSProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
55%
Ovary
51%
Liver
33%
Heart
32%
Brain
22%
Gene Interaction Network
Click a node to explore
PGM2AK2ADPGKG6PC1GCKUGP2RBKS
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96G03
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.58–1.17]
RankingsWhere PGM2 stands among ~20K protein-coding genes
  • #7,997of 20,598
    Most Researched57
  • #12,262of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedPGM2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High expression of glycolysis-related
PMID: 36245582
J Thorac Dis · 2022
1.00
2
Human erythrocyte phosphoglucomutase: comparison of the kinetic properties of PGM1 and PGM2 isoenzymes.
PMID: 6240990
Biochimie · 1984
0.90
3
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
PMID: 36255742
Hum Mol Genet · 2023
0.80
4
ESD, GLO1, PGD, PGM1 and PGM2 gene frequencies in the Salerno Province (Italy).
PMID: 1840292
Gene Geogr · 1991
0.70
5
A Mutation in
PMID: 29523547
Appl Environ Microbiol · 2018
0.60