SLC2A5 Gene - Facilitated Glucose/Fructose Transporter GLUT5
SLC2A5 encodes GLUT5, a fructose-specific transporter involved in dietary fructose absorption and metabolic regulation.
Gene Information Card
| Symbol | SLC2A5 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 6518 ncbi.nlm.nih.gov/gene/6518 |
| Ensembl ID | ENSG00000142583 |
| UniProt ID | P22732 |
| OMIM ID | 138230 |
| HGNC ID | 11007 |
| Aliases | GLUT5, GLUT-5 |
Description
SLC2A5 (Solute Carrier Family 2 Member 5) encodes the facilitated glucose/fructose transporter GLUT5. GLUT5 is a member of the glucose transporter family and is primarily responsible for fructose uptake in the small intestine, kidney, and other tissues. It plays a critical role in dietary fructose absorption and metabolic homeostasis. Mutations in SLC2A5 are associated with fructose malabsorption and may influence metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fructose malabsorption | Defective fructose transport due to reduced GLUT5 activity in intestinal brush border | ClinVar, OMIM #138230 |
| Essential fructosuria | Potential involvement via altered fructose metabolism; not directly linked to SLC2A5 mutations | OMIM #229800 |
| Metabolic syndrome | Altered GLUT5 expression may contribute to fructose-induced insulin resistance and obesity | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Adipose tissue | 4.2 | Low |
| Skeletal muscle | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 15.0 | High expression; model for intestinal fructose transport |
| HEK293 (embryonic kidney) | 7.5 | Moderate expression |
| HepG2 (liver) | 3.2 | Low expression |
| MCF7 (breast) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced fructose transport activity |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Impaired protein stability and trafficking |
| c.1015A>G (p.Thr339Ala) | Missense | 0.02% | Altered substrate affinity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly38Arg, p.Arg152Trp) reduce fructose transport activity or protein stability, leading to fructose malabsorption.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC2A5.
Dominant Negative (DN)
No dominant-negative mutations described for SLC2A5.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • monosaccharide transmembrane transporter activity (GO:0015145) |
| • integral component of plasma membrane (GO:0005887) | • transmembrane transport (GO:0055085) |
| • carbohydrate transport (GO:0008643) |
Pathways
• Fructose metabolism (Reactome: R-HSA-5657560)
• Transport of glucose and other sugars (Reactome: R-HSA-425407)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425374)
Protein Summary
GLUT5 (UniProt P22732) is a 501-amino acid integral membrane protein with 12 transmembrane domains. It functions as a fructose-specific facilitative transporter, mediating the uptake of fructose across the plasma membrane. GLUT5 is highly expressed in the apical membrane of enterocytes in the small intestine and in the proximal tubules of the kidney. Its activity is regulated by substrate availability and hormonal signals. Defects in GLUT5 lead to fructose malabsorption, characterized by gastrointestinal symptoms upon fructose ingestion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A5 Knockout HEK293 Cell Line | EDJ-KQ2188 | Human | 6518 | Details Get a Quote |
| SLC2A5 Knockout HeLa Cell Line | EDJ-KQ22416 | Human | 6518 | Details Get a Quote |
| SLC2A5 Knockout A-549 Cell Line | EDJ-KQ62970 | Human | 6518 | Details Get a Quote |
| SLC2A5 Knockout HCT 116 Cell Line | EDJ-KQ71440 | Human | 6518 | Details Get a Quote |
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