UGP2: UDP-Glucose Pyrophosphorylase 2
Key enzyme in glycogen synthesis and glycosylation pathways
Gene Information Card
| Symbol | UGP2 |
|---|---|
| Full Name | UDP-glucose pyrophosphorylase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p14-p13 |
| NCBI Gene ID | 7360 ncbi.nlm.nih.gov/gene/7360 |
| Ensembl ID | ENSG00000169764 |
| UniProt ID | Q16851 |
| OMIM ID | 191760 |
| HGNC ID | 12527 |
| Aliases | UGP, UDPG, UDPGP2, UGP1 |
Description
UGP2 encodes UDP-glucose pyrophosphorylase 2, a cytosolic enzyme that catalyzes the reversible conversion of UTP and glucose-1-phosphate to UDP-glucose and pyrophosphate. UDP-glucose is a key precursor for glycogen synthesis, glycoprotein and glycolipid biosynthesis, and the production of UDP-glucuronic acid for detoxification pathways. The enzyme is essential for cellular energy storage and glycosylation processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type XIV (GSD XIV) | Deficiency in UGP2 leads to impaired UDP-glucose production, reducing glycogen synthesis and causing hypoglycemia, hepatomegaly, and myopathy. | ClinVar, OMIM |
| Hepatocellular carcinoma | Altered UGP2 expression and activity may disrupt glycogen metabolism and contribute to tumor progression. | COSMIC, NCBI |
| Colorectal cancer | UGP2 overexpression has been observed in colorectal cancer tissues, potentially promoting glycosylation changes that favor metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal muscle | 4.7 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Medium expression |
| HeLa (cervical) | 7.4 | Medium expression |
| A549 (lung) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Reduced enzyme activity; associated with GSD XIV |
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Impaired substrate binding; reported in ClinVar |
| c.1462_1463del (p.Leu488fs) | Frameshift | <0.01% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Arg339Trp, p.Leu488fs) reduce or abolish enzymatic activity, leading to glycogen storage disease.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in UGP2.
Dominant Negative (DN)
No dominant-negative mutations described for UGP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycogen synthesis (Reactome: R-HSA-8982491)
• UDP-glucose biosynthesis (KEGG: map00500)
• Starch and sucrose metabolism (KEGG: map00500)
• Glycosaminoglycan biosynthesis (Reactome: R-HSA-1630316)
Protein Summary
UGP2 is a 508-amino acid protein that forms a homodimer in the cytosol. It catalyzes the rate-limiting step in UDP-glucose production, which is critical for glycogen synthesis and glycosylation. The enzyme is highly expressed in liver and kidney, consistent with its role in glucose homeostasis. Structural studies reveal a Rossmann-like fold with a conserved active site that binds UTP and glucose-1-phosphate. Post-translational modifications include phosphorylation at Ser11 and Ser12, which may regulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGP2 Knockout HEK293 Cell Line | EDJ-KQ3343 | Human | 7360 | Details Get a Quote |
| SUGP2 Knockout HEK293 Cell Line | EDJ-KQ6918 | Human | 10147 | Details Get a Quote |
| UGP2 Knockout A-549 Cell Line | EDJ-KQ24985 | Human | 7360 | Details Get a Quote |
| UGP2 Knockout HeLa Cell Line | EDJ-KQ24987 | Human | 7360 | Details Get a Quote |
| UGP2 Knockout HCT 116 Cell Line | EDJ-KQ23596 | Human | 7360 | Details Get a Quote |
| SUGP2 Knockout A-549 Cell Line | EDJ-KQ31553 | Human | 10147 | Details Get a Quote |
| SUGP2 Knockout HCT 116 Cell Line | EDJ-KQ31554 | Human | 10147 | Details Get a Quote |
| SUGP2 Knockout HeLa Cell Line | EDJ-KQ31555 | Human | 10147 | Details Get a Quote |
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