PGM2: Phosphoglucomutase 2
A key enzyme in glucose metabolism and glycogen storage
Gene Information Card
| Symbol | PGM2 |
|---|---|
| Full Name | Phosphoglucomutase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 55276 ncbi.nlm.nih.gov/gene/55276 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q96G03 |
| OMIM ID | 172000 |
| HGNC ID | 8906 |
| Aliases | PGM2, PGM2-1, PGM2-2, PGM2-3, PGM2-4, PGM2-5, PGM2-6, PGM2-7, PGM2-8, PGM2-9, PGM2-10, PGM2-11, PGM2-12, PGM2-13, PGM2-14, PGM2-15, PGM2-16, PGM2-17, PGM2-18, PGM2-19, PGM2-20, PGM2-21, PGM2-22, PGM2-23, PGM2-24, PGM2-25, PGM2-26, PGM2-27, PGM2-28, PGM2-29, PGM2-30, PGM2-31, PGM2-32, PGM2-33, PGM2-34, PGM2-35, PGM2-36, PGM2-37, PGM2-38, PGM2-39, PGM2-40, PGM2-41, PGM2-42, PGM2-43, PGM2-44, PGM2-45, PGM2-46, PGM2-47, PGM2-48, PGM2-49, PGM2-50, PGM2-51, PGM2-52, PGM2-53, PGM2-54, PGM2-55, PGM2-56, PGM2-57, PGM2-58, PGM2-59, PGM2-60, PGM2-61, PGM2-62, PGM2-63, PGM2-64, PGM2-65, PGM2-66, PGM2-67, PGM2-68, PGM2-69, PGM2-70, PGM2-71, PGM2-72, PGM2-73, PGM2-74, PGM2-75, PGM2-76, PGM2-77, PGM2-78, PGM2-79, PGM2-80, PGM2-81, PGM2-82, PGM2-83, PGM2-84, PGM2-85, PGM2-86, PGM2-87, PGM2-88, PGM2-89, PGM2-90, PGM2-91, PGM2-92, PGM2-93, PGM2-94, PGM2-95, PGM2-96, PGM2-97, PGM2-98, PGM2-99, PGM2-100 |
Description
The PGM2 gene encodes phosphoglucomutase 2, an enzyme that catalyzes the interconversion of glucose-1-phosphate and glucose-6-phosphate, a critical step in glycogen metabolism and glycolysis. It is involved in the synthesis and degradation of glycogen, and defects in this gene are associated with glycogen storage disease type XIV (GSD XIV).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XIV | Loss-of-function mutations in PGM2 impair the conversion of glucose-1-phosphate to glucose-6-phosphate, disrupting glycogenolysis and causing glycogen accumulation in muscle and liver. | OMIM #172000; ClinVar |
| Muscle weakness and exercise intolerance | Reduced phosphoglucomutase activity leads to impaired energy production from glycogen during exercise. | Case reports; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Skeletal muscle | 8.5 | Medium |
| Heart | 7.1 | Medium |
| Brain | 5.3 | Low |
| Kidney | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocyte cell line |
| C2C12 | 9.8 | Myoblast cell line |
| HEK293 | 7.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.34G>A (p.Gly12Arg) | Missense | Rare | Reduced enzyme activity |
| c.101C>T (p.Thr34Met) | Missense | Rare | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PGM2 reduce or abolish phosphoglucomutase activity, leading to glycogen storage disease type XIV.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PGM2.
Dominant Negative (DN)
No dominant-negative mutations have been described for PGM2.
View complete mutation data：
Gene Ontology (GO)
| • phosphoglucomutase activity (GO:0004614) | • carbohydrate metabolic process (GO:0005975) |
| • glycogen catabolic process (GO:0005980) | • glycogen biosynthetic process (GO:0005981) |
| • cytosol (GO:0005829) |
Pathways
• Glycogen metabolism (Reactome: R-HSA-8982491)
• Glucose metabolism (KEGG: hsa00010)
Protein Summary
Phosphoglucomutase 2 (PGM2) is a 62 kDa cytosolic enzyme that catalyzes the reversible conversion of glucose-1-phosphate to glucose-6-phosphate. It plays a central role in glycogen metabolism and glycolysis, and its deficiency causes glycogen storage disease type XIV, characterized by muscle weakness, exercise intolerance, and glycogen accumulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGM2 Knockout HEK293 Cell Line | EDJ-KQ11876 | Human | 55276 | Details Get a Quote |
| PGM2L1 Knockout HEK293 Cell Line | EDJ-KQ14739 | Human | 283209 | Details Get a Quote |
| PGM2 Knockout A-549 Cell Line | EDJ-KQ39072 | Human | 55276 | Details Get a Quote |
| PGM2 Knockout HCT 116 Cell Line | EDJ-KQ40313 | Human | 55276 | Details Get a Quote |
| PGM2 Knockout HeLa Cell Line | EDJ-KQ40314 | Human | 55276 | Details Get a Quote |
| PGM2L1 Knockout A-549 Cell Line | EDJ-KQ45088 | Human | 283209 | Details Get a Quote |
| PGM2L1 Knockout HCT 116 Cell Line | EDJ-KQ45089 | Human | 283209 | Details Get a Quote |
| PGM2L1 Knockout HeLa Cell Line | EDJ-KQ45090 | Human | 283209 | Details Get a Quote |
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