G6PC2
Glucose-6-Phosphatase Catalytic Subunit 2
Gene Information Card
| Symbol | G6PC2 |
|---|---|
| Full Name | Glucose-6-Phosphatase Catalytic Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 57818 ncbi.nlm.nih.gov/gene/57818 |
| Ensembl ID | ENSG00000152254 |
| UniProt ID | Q9NQR9 |
| OMIM ID | 608058 |
| HGNC ID | 24861 |
| Aliases | IGRP, G6Pase-2, G6PC-2, G6Pase-beta |
Description
G6PC2 encodes the catalytic subunit of glucose-6-phosphatase (G6Pase), an enzyme that catalyzes the final step of gluconeogenesis and glycogenolysis, converting glucose-6-phosphate to glucose. This isoform is primarily expressed in pancreatic islets and is involved in regulating fasting blood glucose levels. Genetic variants in G6PC2 are associated with fasting glucose levels and type 2 diabetes risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Variants in G6PC2 alter fasting glucose levels, contributing to diabetes risk | GWAS studies (PMID: 20081858, 19060911) |
| Fasting Hyperglycemia | G6PC2 expression modulates glucose-6-phosphatase activity in islets, affecting glucose output | Association studies (PMID: 17660751) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.3 | Medium |
| Liver | 0.2 | Not detected |
| Kidney | 0.1 | Not detected |
| Small Intestine | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| INS-1 (rat beta-cell) | 15.0 | High expression |
| MIN6 (mouse beta-cell) | 18.5 | High expression |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs560887 | SNP | 30% (CEU) | Intronic; associated with fasting glucose levels |
| rs563694 | SNP | 25% (CEU) | Intronic; associated with fasting glucose levels |
| rs138726309 | missense | <0.1% | p.Val219Ile; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function variants may reduce G6Pase activity, potentially lowering fasting glucose.
Gain of Function (GOF)
Gain-of-function variants are not well characterized; increased activity may elevate fasting glucose.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • glucose-6-phosphatase activity (GO:0004346) | • acting on ester bonds (GO:0016788) |
| • glucose homeostasis (GO:0042593) | • gluconeogenesis (GO:0006094) |
| • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Gluconeogenesis (Reactome: R-HSA-70263)
• Glucose metabolism (Reactome: R-HSA-71387)
• Glycogen breakdown (Reactome: R-HSA-70221)
Protein Summary
G6PC2 is a 355-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the dephosphorylation of glucose-6-phosphate to glucose, a key step in glucose production. In pancreatic islets, it modulates glucose sensing and insulin secretion. Its structure includes a catalytic domain and multiple transmembrane helices.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| G6PC2 Knockout HEK293 Cell Line | EDJ-KQ1545 | Human | 57818 | Details Get a Quote |
| G6PC2 Knockout HeLa Cell Line | EDJ-KQ56919 | Human | 57818 | Details Get a Quote |
| G6PC2 Knockout A-549 Cell Line | EDJ-KQ65427 | Human | 57818 | Details Get a Quote |
| G6PC2 Knockout HCT 116 Cell Line | EDJ-KQ73864 | Human | 57818 | Details Get a Quote |
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