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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC2A4
solute carrier family 2 member 4
Chromosome 17 · 17p13.1
NCBI Gene: 6517Ensembl: ENSG00000181856.16HGNC: HGNC:11009UniProt: P14672
230PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to insulin stimulusglucose homeostasisprotein bindingD-glucose transmembrane transporter activityhypertensionessential hypertensionIncreased blood pressuretype 2 diabetes mellitus
✦AI Summary

SLC2A4 encodes GLUT4, an insulin-regulated glucose transporter essential for glucose homeostasis and metabolic health. In the basal state, GLUT4 is sequestered intracellularly within storage compartments in muscle and adipose tissue 1. Upon insulin stimulation, GLUT4 translocates to the plasma membrane via a signaling cascade involving AMPK, Ca²⁺, GTPases, and SNARE proteins, enabling glucose uptake by facilitated diffusion 1. Exercise similarly promotes GLUT4 translocation through contraction-induced signaling distinct from insulin pathways, while also increasing GLUT4 expression via the HDAC4/5-MEF2 axis 1. SLC2A4 dysfunction is implicated in type 2 diabetes mellitus (T2DM), with multiple genetic variants associated with T2DM risk and insulin resistance 2. In obesity, SLC2A4 expression is suppressed through increased DNA methylation in enhancer regions, correlating with impaired insulin sensitivity and de novo lipogenesis in visceral adipose tissue 3. Physical inactivity reduces muscle GLUT4 expression, contributing to decreased glucose uptake and T2DM pathogenesis 4. GLUT4 dysfunction in adipose tissue impairs lipid storage capacity and insulin sensitivity, promoting ectopic fat accumulation and metabolic syndrome 5.

Sources cited
1
GLUT4 translocation mechanism from intracellular storage depots to plasma membrane upon muscle contraction, involving AMPK, Ca²⁺, GTPases, and SNARE proteins; exercise increases GLUT4 expression via HDAC4/5-MEF2 axis
PMID: 23899560
2
SLC2A4 expression is decreased in obesity and insulin resistance through increased DNA methylation; decreased Slc2a4 expression correlates with impaired de novo lipogenesis and insulin sensitivity
PMID: 37047391
3
SLC2A4 genetic variants (rs5435) associated with gestational diabetes mellitus and altered glucose tolerance, fasting insulin, and HOMA-IR levels
PMID: 30805369
4
Physical inactivity reduces GLUT4 protein expression in muscle, leading to decreased glucose uptake and contributing to type 2 diabetes
PMID: 11950134
5
GLUT4 function in subcutaneous adipose tissue regulates insulin sensitivity and expandability; impaired GLUT4 action contributes to ectopic fat accumulation and insulin resistance
PMID: 25703677
Disease Associationsⓘ21
hypertensionOpen Targets
0.44Moderate
essential hypertensionOpen Targets
0.35Weak
Increased blood pressureOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
cardiovascular diseaseOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.23Weak
Parkinson diseaseOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.22Weak
lysosomal storage diseaseOpen Targets
0.22Weak
multiple sclerosisOpen Targets
0.22Weak
hearing lossOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.11Weak
MODYOpen Targets
0.10Suggestive
polycystic ovary syndromeOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
Insulin resistanceOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.08Suggestive
Type 2 diabetes mellitusUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STX4Protein interaction100%VAMP2Protein interaction100%IRS2Protein interaction100%RASA1Protein interaction99%EXOC4Protein interaction99%TBC1D4Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Ovary
3%
Liver
2%
Lung
2%
Bone Marrow
2%
Brain
2%
Gene Interaction Network
Click a node to explore
SLC2A4STX4VAMP2IRS2RASA1EXOC4TBC1D4
PROTEIN STRUCTURE
Preparing viewer…
PDB7WSM · 3.25 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.43–0.77]
RankingsWhere SLC2A4 stands among ~20K protein-coding genes
  • #1,756of 20,598
    Most Researched230 · top 10%
  • #6,268of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedSLC2A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exercise, GLUT4, and skeletal muscle glucose uptake.
PMID: 23899560
Physiol Rev · 2013
1.00
2
Molecular Mechanisms Linking Oxidative Stress and Diabetes Mellitus.
PMID: 32215179
Oxid Med Cell Longev · 2020
0.90
3
Fatty Acid Induced Hypermethylation in the
PMID: 37047391
Int J Mol Sci · 2023
0.80
4
Relationships of
PMID: 30805369
Biomed Res Int · 2019
0.70
5
[Glucocorticoid-induced diabetes].
PMID: 15779396
Nihon Rinsho · 2005
0.60