SLC2A2 (GLUT2) Gene
Solute Carrier Family 2 Member 2 – Glucose Transporter 2
Gene Information Card
| Symbol | SLC2A2 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 6514 ncbi.nlm.nih.gov/gene/6514 |
| Ensembl ID | ENSG00000163581 |
| UniProt ID | P11168 |
| OMIM ID | 138160 |
| HGNC ID | 11006 |
| Aliases | GLUT2, GLUT-2 |
Description
SLC2A2 encodes the facilitated glucose transporter GLUT2, a member of the solute carrier family 2. GLUT2 is a low-affinity, high-capacity glucose transporter primarily expressed in hepatocytes, pancreatic beta cells, intestinal epithelial cells, and renal tubules. It mediates bidirectional glucose transport across cell membranes and plays a critical role in glucose sensing, insulin secretion, and renal glucose reabsorption. Mutations in SLC2A2 cause Fanconi-Bickel syndrome and are associated with susceptibility to type 2 diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi-Bickel syndrome | Loss-of-function mutations impair glucose transport in liver and kidney, leading to glycogen accumulation, renal tubular dysfunction, and fasting hypoglycemia. | OMIM #227810; ClinVar pathogenic variants |
| Monogenic diabetes (MODY-like) | Heterozygous missense variants reduce GLUT2 activity in pancreatic beta cells, impairing glucose-stimulated insulin secretion. | Case reports; ClinVar |
| Type 2 diabetes susceptibility | Common variants (e.g., rs5400) alter GLUT2 expression or function, contributing to insulin resistance and impaired glucose tolerance. | GWAS; NCBI dbSNP |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Small intestine | 6.7 | Medium |
| Kidney | 5.1 | Medium |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 14.2 | High expression |
| Caco-2 (intestinal) | 9.8 | Medium expression |
| MIN6 (pancreatic beta) | 11.5 | High expression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Loss of function; Fanconi-Bickel syndrome |
| c.119G>A (p.Gly40Asp) | Missense | <0.01% | Reduced glucose transport; MODY-like diabetes |
| c.1303C>T (p.Arg435Cys) | Missense | 0.02% | Impaired trafficking; Fanconi-Bickel syndrome |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of function; Fanconi-Bickel syndrome |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic SLC2A2 mutations are loss-of-function, leading to Fanconi-Bickel syndrome via impaired glucose transport in liver and kidney.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC2A2.
Dominant Negative (DN)
Heterozygous missense variants (e.g., p.Gly40Asp) may exert dominant-negative effects on GLUT2 oligomerization, reducing overall transport capacity.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005355 – glucose transmembrane transporter activity | • GO:0005886 – plasma membrane |
| • GO:0015758 – glucose transport | • GO:0032869 – cellular response to insulin stimulus |
| • GO:0042593 – glucose homeostasis | • GO:0071333 – cellular response to glucose stimulus |
Pathways
• Glucose transport (Reactome R-HSA-189200)
• Insulin secretion (KEGG hsa04911)
• Carbohydrate digestion and absorption (KEGG hsa04973)
• Renal glucose reabsorption (KEGG hsa04964)
Protein Summary
GLUT2 (UniProt P11168) is a 524-amino acid integral membrane protein with 12 transmembrane helices. It functions as a uniporter facilitating bidirectional glucose transport. In hepatocytes, it mediates glucose uptake and release; in pancreatic beta cells, it acts as a glucose sensor coupling extracellular glucose concentration to insulin secretion. GLUT2 also transports fructose and galactose. Post-translational modifications include N-glycosylation at Asn62 and Asn402, which are essential for proper trafficking and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A2 Knockout HEK293 Cell Line | EDJ-KQ5759 | Human | 6514 | Details Get a Quote |
| SLC2A2 Knockout HeLa Cell Line | EDJ-KQ54482 | Human | 6514 | Details Get a Quote |
| SLC2A2 Knockout A-549 Cell Line | EDJ-KQ62968 | Human | 6514 | Details Get a Quote |
| SLC2A2 Knockout HCT 116 Cell Line | EDJ-KQ71439 | Human | 6514 | Details Get a Quote |
| SLC2A2 Knockout Huh-7 Cell Line | EDC07916 | Human | 6514 | Details Get a Quote |
| Slc2a2 Overexpression CHO-K1 Stable Cell Line | EDC01698 | Chinese hamster | 100750908 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
