PGM2

Chr 4

phosphoglucomutase 2

Also known as: MSTP006

NCBI Gene: 55276ENSG00000169299UniProt: Q96G03OMIM: 172000

Enables phosphoglucomutase activity and phosphopentomutase activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to act upstream of or within glucose metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.75
OE 0.68 (0.49–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.94 (0.86–1.03)
307 obs / 326.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.49–0.96)
0≤0.351.4
Missense OE?0.94 (0.86–1.03)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 23 / 34.0Missense obs/exp: 307 / 326.1Syn Z: 0.82

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PGM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients