SLC2A8 (GLUT8) Gene - Glucose Transporter 8
Solute Carrier Family 2 Member 8: A Facilitative Glucose Transporter with Roles in Energy Metabolism and Spermatogenesis
Gene Information Card
| Symbol | SLC2A8 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 29988 ncbi.nlm.nih.gov/gene/29988 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | Q9NY64 |
| OMIM ID | 605245 |
| HGNC ID | 11011 |
| Aliases | GLUT8, GLUTX1 |
Description
SLC2A8 (Solute Carrier Family 2 Member 8) encodes GLUT8, a facilitative glucose transporter that mediates the uptake of glucose and fructose. GLUT8 is predominantly expressed in intracellular vesicles and translocates to the plasma membrane upon stimulation. It plays a critical role in energy metabolism, particularly in the testis (spermatogenesis), brain, and heart. The gene is located on chromosome 9q34.2 and is conserved across vertebrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Altered GLUT8 expression may impair insulin-stimulated glucose uptake in muscle and adipose tissue, contributing to insulin resistance. | Association studies; differential expression in diabetic models (PMID: 15677334) |
| Male Infertility | GLUT8 deficiency in testis disrupts glucose supply to developing sperm, leading to impaired spermatogenesis and reduced fertility. | Knockout mouse models (PMID: 17050686) |
| Cardiac Hypertrophy | Upregulation of GLUT8 in cardiomyocytes under stress conditions may alter glucose metabolism and contribute to pathological remodeling. | Expression analysis in hypertrophic hearts (PMID: 19074856) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.8 | Cervical cancer cell line |
| HepG2 | 4.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 7.1 | Neuroblastoma cell line |
| MCF7 | 3.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced glucose transport activity in vitro |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Altered subcellular localization |
| c.1129_1131del (p.Phe377del) | Deletion | <0.01% | Loss of function in cellular assays |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair glucose transport or membrane translocation (e.g., p.Phe377del).
Gain of Function (GOF)
Not reported for SLC2A8.
Dominant Negative (DN)
Not reported for SLC2A8.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • monosaccharide transmembrane transporter activity (GO:0015145) |
| • transmembrane transport (GO:0055085) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
GLUT8 (UniProt Q9NY64) is a 477-amino acid facilitative glucose transporter with 12 transmembrane domains. It contains a conserved sugar transport signature motif and is N-glycosylated. GLUT8 localizes primarily to intracellular vesicles and translocates to the plasma membrane in response to insulin or other stimuli. It transports glucose and fructose with low affinity (Km ~2 mM for glucose). The protein is highly expressed in testis, brain, and heart, and its dysfunction is linked to metabolic and reproductive disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A8 Knockout HEK293 Cell Line | EDJ-KQ3619 | Human | 29988 | Details Get a Quote |
| SLC2A8 Knockout A-549 Cell Line | EDJ-KQ25553 | Human | 29988 | Details Get a Quote |
| SLC2A8 Knockout HCT 116 Cell Line | EDJ-KQ25554 | Human | 29988 | Details Get a Quote |
| SLC2A8 Knockout HeLa Cell Line | EDJ-KQ25555 | Human | 29988 | Details Get a Quote |
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