G6PC3: Glucose-6-Phosphatase Catalytic Subunit 3
A key enzyme in glucose homeostasis and neutrophil function; mutations cause severe congenital neutropenia type 4.
Gene Information Card
| Symbol | G6PC3 |
|---|---|
| Full Name | Glucose-6-Phosphatase Catalytic Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 92579 ncbi.nlm.nih.gov/gene/92579 |
| Ensembl ID | ENSG00000141349 |
| UniProt ID | Q9BUM1 |
| OMIM ID | 611045 |
| HGNC ID | 24861 |
| Aliases | G6PC, G6PT3, UGRP, SCN4 |
Description
The G6PC3 gene encodes the catalytic subunit 3 of glucose-6-phosphatase (G6Pase), an enzyme that catalyzes the final step of gluconeogenesis and glycogenolysis, converting glucose-6-phosphate to glucose. This enzyme is critical for maintaining glucose homeostasis. In addition, G6PC3 plays a role in neutrophil survival and function; loss-of-function mutations lead to severe congenital neutropenia type 4 (SCN4), characterized by neutropenia, recurrent infections, and various developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe congenital neutropenia type 4 (SCN4) | Loss-of-function mutations in G6PC3 impair glucose-6-phosphatase activity, leading to endoplasmic reticulum stress and increased apoptosis in neutrophils. | ClinVar, OMIM |
| Glycogen storage disease type I (atypical) | Deficient G6PC3 activity disrupts glucose homeostasis, causing hypoglycemia and glycogen accumulation. | OMIM |
| Inflammatory bowel disease (associated) | Neutrophil dysfunction due to G6PC3 mutations may contribute to chronic intestinal inflammation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Liver | 6.1 | Low |
| Lung | 4.7 | Low |
| Kidney | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HL-60 (promyeloblast) | 11.8 | High expression |
| HeLa (cervical) | 5.4 | Moderate |
| HEK293 (embryonic kidney) | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.210G>A (p.Trp70Ter) | Nonsense | Rare | Loss of function; truncates protein, causing SCN4. |
| c.260G>A (p.Arg87His) | Missense | Rare | Loss of function; reduces enzyme activity, associated with neutropenia. |
| c.479T>C (p.Leu160Pro) | Missense | Rare | Loss of function; disrupts protein folding, linked to SCN4. |
Mutation functional classification
Loss of Function (LOF)
Most G6PC3 mutations are loss-of-function, reducing or abolishing glucose-6-phosphatase activity, leading to neutropenia and metabolic defects.
Gain of Function (GOF)
No gain-of-function mutations reported for G6PC3.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • glucose-6-phosphatase activity | • hydrolase activity |
| • endoplasmic reticulum membrane | • glucose homeostasis |
| • neutrophil homeostasis |
Pathways
• Gluconeogenesis
• Glycogen metabolism
• Glucose-6-phosphate metabolic process
Protein Summary
G6PC3 is a 346-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the dephosphorylation of glucose-6-phosphate to glucose, a key step in glucose release. The protein is essential for neutrophil survival; its deficiency triggers ER stress and apoptosis, leading to severe congenital neutropenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| G6PC3 Knockout HEK293 Cell Line | EDJ-KQ797 | Human | 92579 | Details Get a Quote |
| G6PC3 Knockout A-549 Cell Line | EDJ-KQ19520 | Human | 92579 | Details Get a Quote |
| G6PC3 Knockout HCT 116 Cell Line | EDJ-KQ19521 | Human | 92579 | Details Get a Quote |
| G6PC3 Knockout HeLa Cell Line | EDJ-KQ19522 | Human | 92579 | Details Get a Quote |
| G6PC3 Knockout Hep-G2 Cell Line | EDJ-KZ259 | Human | 92579 | Details Get a Quote |
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