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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC2A2
solute carrier family 2 member 2
Chromosome 3 Β· 3q26.2
NCBI Gene: 6514Ensembl: ENSG00000163581.15HGNC: HGNC:11006UniProt: P11168
118PubMed Papers
21Diseases
0Drugs
57Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranegalactose transmembrane transporter activitydehydroascorbic acid transmembrane transporter activityfructose transmembrane transportglycogen storage disease due to GLUT2 deficiencytype 2 diabetes mellitusdiabetic ketoacidosisdiabetes mellitus
✦AI Summary

SLC2A2 encodes GLUT2, a facilitative glucose transporter that plays critical roles in glucose homeostasis and sensing. GLUT2 mediates bidirectional transport of glucose, fructose, and galactose across plasma membranes and is expressed in key metabolic tissues including liver, pancreatic beta cells, kidney, and intestine 1. In pancreatic beta cells, GLUT2 is essential for glucose-stimulated insulin secretion and comprises part of the glucose-sensing mechanism 1. The transporter also participates in renal glucose reabsorption via the basolateral membrane of proximal tubules, working alongside SGLT1 and SGLT2 to prevent glucose loss in urine 2. In the intestine, GLUT2 contributes to glucose absorption and barrier function, with hyperglycemia-induced GLUT2 activity leading to intestinal permeability and increased infection risk 3. Inactivating mutations in SLC2A2 cause Fanconi-Bickel syndrome, characterized by hepatomegaly and kidney disease 1. Genome-wide association studies have linked SLC2A2 variants to fasting glucose levels, type 2 diabetes risk, and cardiovascular diseases 41. Additionally, SLC2A2 polymorphisms influence metformin efficacy in type 2 diabetes treatment and dental caries susceptibility 56.

Sources cited
1
GLUT2 expression, glucose sensing function, disease associations, and tissue distribution
PMID: 25421524
2
Role of GLUT2 in renal glucose reabsorption
PMID: 30132032
3
GLUT2's role in intestinal barrier function and infection risk
PMID: 29519916
4
Association of SLC2A2 variants with fasting glucose and type 2 diabetes risk
PMID: 20081858
5
SLC2A2 polymorphisms affecting metformin efficacy
PMID: 35140900
6
Association between SLC2A2 variants and dental caries susceptibility
PMID: 37257183
Disease Associationsβ“˜21
glycogen storage disease due to GLUT2 deficiencyOpen Targets
0.82Strong
type 2 diabetes mellitusOpen Targets
0.74Strong
diabetic ketoacidosisOpen Targets
0.45Moderate
diabetes mellitusOpen Targets
0.40Weak
obesityOpen Targets
0.40Weak
goutOpen Targets
0.39Weak
neonatal diabetes mellitusOpen Targets
0.37Weak
transient neonatal diabetes mellitusOpen Targets
0.37Weak
permanent neonatal diabetes mellitusOpen Targets
0.37Weak
renal tubular transport diseaseOpen Targets
0.37Weak
enteritisOpen Targets
0.34Weak
familial long QT syndromeOpen Targets
0.33Weak
Romano-Ward syndromeOpen Targets
0.33Weak
response to metforminOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Down syndromeOpen Targets
0.18Weak
adolescent idiopathic scoliosisOpen Targets
0.16Weak
monogenic diabetesOpen Targets
0.16Weak
liver diseaseOpen Targets
0.16Weak
Fanconi-Bickel syndromeUniProt
Pathogenic Variants57
NM_000340.2(SLC2A2):c.963+1G>APathogenic
Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2026
NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter)Pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 84
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_000340.2(SLC2A2):c.497-2A>GPathogenic
Fanconi-Bickel syndrome|not provided|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2025
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)Pathogenic
Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome|SLC2A2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 61
NM_000340.2(SLC2A2):c.775+1G>APathogenic
not provided|Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2024
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)Likely pathogenic
Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 197
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)Likely pathogenic
Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 158
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)Pathogenic
Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 417
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β˜…β˜…β˜†β˜†2024β†’ Residue 301
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus|not provided|Congenital long QT syndrome|Glioma susceptibility 1
β˜…β˜…β˜†β˜†2023β†’ Residue 365
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)Pathogenic
Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 228
NM_000340.2(SLC2A2):c.333del (p.Ser112fs)Pathogenic
Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 112
NM_000340.2(SLC2A2):c.426_429dup (p.Phe144fs)Pathogenic
Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_000340.2(SLC2A2):c.1330T>C (p.Trp444Arg)Likely pathogenic
Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 444
NM_000340.2(SLC2A2):c.1020T>G (p.Tyr340Ter)Pathogenic
Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 340
NM_000340.2(SLC2A2):c.613-1G>TLikely pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β˜…β˜†β˜†β˜†2024
NM_000340.2(SLC2A2):c.670del (p.Leu224fs)Likely pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β˜…β˜†β˜†β˜†2024β†’ Residue 224
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)Likely pathogenic
SLC2A2-related disorder|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 39
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)Pathogenic
Fanconi-Bickel syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 223
View on ClinVar β†—
Related Genes
G6PC2Protein interaction99%G6PC3Protein interaction98%G6PC1Protein interaction96%GCKProtein interaction96%INSProtein interaction96%PDX1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC2A2G6PC2G6PC3G6PC1GCKINSPDX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P11168
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.46–0.86]
RankingsWhere SLC2A2 stands among ~20K protein-coding genes
  • #4,015of 20,598
    Most Researched118 Β· top quartile
  • #1,213of 5,498
    Most Pathogenic Variants57 Β· top quartile
  • #7,501of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedSLC2A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Fructose metabolism and metabolic disease.
PMID: 29388924
J Clin Invest Β· 2018
1.00
2
GLUT2, glucose sensing and glucose homeostasis.
PMID: 25421524
Diabetologia Β· 2015
0.90
3
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2.
PMID: 30132032
Diabetologia Β· 2018
0.80
4
Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection.
PMID: 29519916
Science Β· 2018
0.70
5
Association Between the
PMID: 37257183
Genet Test Mol Biomarkers Β· 2023
0.60