SLC2A4 (GLUT4) Gene - Solute Carrier Family 2 Member 4
Key insulin-responsive glucose transporter in adipose tissue and skeletal muscle
Gene Information Card
| Symbol | SLC2A4 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 6517 ncbi.nlm.nih.gov/gene/6517 |
| Ensembl ID | ENSG00000181856 |
| UniProt ID | P14672 |
| OMIM ID | 138190 |
| HGNC ID | 11009 |
| Aliases | GLUT4 |
Description
SLC2A4 (Solute Carrier Family 2 Member 4) encodes the insulin-responsive glucose transporter GLUT4. GLUT4 is primarily expressed in adipose tissue, skeletal muscle, and heart, where it facilitates glucose uptake in response to insulin stimulation. Translocation of GLUT4 from intracellular vesicles to the plasma membrane is a key step in glucose homeostasis. Dysregulation of SLC2A4 expression or function is implicated in insulin resistance and type 2 diabetes mellitus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes Mellitus | Reduced GLUT4 expression or impaired translocation leads to decreased insulin-stimulated glucose uptake in muscle and adipose tissue, contributing to insulin resistance. | Multiple studies; reviewed in OMIM #138190 |
| Insulin Resistance | Defects in SLC2A4 expression or trafficking result in diminished glucose disposal, a hallmark of metabolic syndrome. | Clinical and experimental evidence; NCBI Gene ID 6517 |
| Cardiovascular Disease | Altered GLUT4 expression in cardiac muscle may affect myocardial glucose utilization and energy metabolism. | Association studies; PubMed references via NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 25.6 | High |
| Skeletal muscle | 18.3 | High |
| Heart | 12.1 | Medium |
| Brain | 0.8 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 adipocytes | High | Differentiated adipocyte model |
| L6 myotubes | High | Rat skeletal muscle cell line |
| C2C12 myotubes | High | Mouse skeletal muscle cell line |
| HepG2 | Low | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143C>T (p.Pro48Leu) | Missense | Rare | Reduced glucose transport activity; associated with insulin resistance |
| c.1118G>A (p.Arg373His) | Missense | Rare | Impaired insulin-stimulated translocation |
| c.1309G>A (p.Gly437Arg) | Missense | Rare | Decreased cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce GLUT4 expression, impair translocation, or decrease intrinsic transport activity lead to loss of function, contributing to insulin resistance.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC2A4.
Dominant Negative (DN)
No dominant-negative mutations described for SLC2A4.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005355 - glucose transmembrane transporter activity | • GO:0015293 - symporter activity |
| • GO:0055085 - transmembrane transport | • GO:0015758 - glucose transport |
| • GO:0005886 - plasma membrane | • GO:0030141 - secretory granule |
| • GO:0005737 - cytoplasm |
Pathways
• Insulin signaling pathway (Reactome: R-HSA-74752)
• Glucose transport (Reactome: R-HSA-189200)
• Regulation of GLUT4 translocation (Reactome: R-HSA-1445148)
Protein Summary
GLUT4 (UniProt P14672) is a 509-amino acid integral membrane protein with 12 transmembrane domains. It belongs to the major facilitator superfamily of sugar transporters. Under basal conditions, GLUT4 is sequestered in intracellular storage vesicles. Insulin stimulation triggers its translocation to the plasma membrane via PI3K/Akt and AS160 signaling, enabling rapid glucose uptake. GLUT4 is the principal insulin-responsive glucose transporter in adipose and muscle tissues, and its dysfunction is central to the pathophysiology of type 2 diabetes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A4 Knockout HEK293 Cell Line | EDJ-KQ1523 | Human | 6517 | Details Get a Quote |
| SLC2A4RG Knockout HEK293 Cell Line | EDJ-KQ16547 | Human | 56731 | Details Get a Quote |
| SLC2A4 Knockout HCT 116 Cell Line | EDJ-KQ21167 | Human | 6517 | Details Get a Quote |
| SLC2A4RG Knockout HCT 116 Cell Line | EDJ-KQ48168 | Human | 56731 | Details Get a Quote |
| SLC2A4RG Knockout HeLa Cell Line | EDJ-KQ48169 | Human | 56731 | Details Get a Quote |
| SLC2A4RG Knockout A-549 Cell Line | EDJ-KQ46850 | Human | 56731 | Details Get a Quote |
| SLC2A4 Knockout HeLa Cell Line | EDJ-KQ54483 | Human | 6517 | Details Get a Quote |
| SLC2A4 Knockout A-549 Cell Line | EDJ-KQ62969 | Human | 6517 | Details Get a Quote |
| SLC2A4 Knockout Huh-7 Cell Line | EDC08334 | Human | 6517 | Details Get a Quote |
| SLC2A4 Overexpression CHO-K1 Stable Cell Line | EDC01699 | Chinese hamster | 6517 | Details Get a Quote |
Displaying Records 1 To 10 Of 10 Records
