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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC5A2
solute carrier family 5 member 2
Chromosome 16 Β· 16p11.2
NCBI Gene: 6524Ensembl: ENSG00000140675.14HGNC: HGNC:11037UniProt: P31639
128PubMed Papers
21Diseases
17Drugs
43Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingplasma membranesodium ion import across plasma membranealpha-glucoside transmembrane transporter activityfamilial renal glucosuriatype 2 diabetes mellitusdiabetes mellitusheart failure
✦AI Summary

SLC5A2 encodes SGLT2, an electrogenic sodium-glucose cotransporter that actively transports D-glucose with a 1:1 Na+ to glucose coupling ratio 1. This transport is driven by the transmembrane Na+ electrochemical gradient established by the Na+/K+ pump 1. Unlike SGLT1, SGLT2 requires the auxiliary protein MAP17 for full transporter activity 1. SGLT2 mediates reabsorption of the majority of filtered glucose in the kidney's proximal tubules, with SGLT1 reabsorbing the remainder 2. Mutations in SLC5A2 cause familial renal glucosuria, characterized by glucose excretion in urine 2. Clinically, SGLT2 inhibitors (gliflozins) are widely used antidiabetic agents that enhance urinary glucose excretion 23. Beyond glucose lowering, these inhibitors reduce atherosclerotic events, heart failure hospitalizations, and slow chr16 kidney disease progression, making them beneficial even in non-diabetic patients 3. SLC5A2 genetic polymorphisms influence both baseline glucose metabolism and individual response to SGLT2 inhibitor therapy, though current evidence suggests variable clinical significance 4. The pharmacological targeting of SGLT2 represents a mechanistically distinct approach to diabetes management with pleiotropic cardiorenal benefits.

Sources cited
1
SGLT2 structure, Na+-glucose coupling ratio of 1:1, MAP17 requirement, and mechanism of empagliflozin inhibition
PMID: 34880493
2
SGLT2 responsible for majority of renal glucose reabsorption; SLC5A2 mutations cause glucosuria; SGLT2 inhibitor development and clinical use
PMID: 30132033
3
SGLT2 inhibitor effects on atherosclerotic events, heart failure, and chronic kidney disease progression
PMID: 32000955
4
SLC5A2 polymorphisms affecting glucose metabolism and SGLT2 inhibitor response
PMID: 37819499
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
familial renal glucosuriaOpen Targets
0.73Strong
type 2 diabetes mellitusOpen Targets
0.64Moderate
diabetes mellitusOpen Targets
0.63Moderate
heart failureOpen Targets
0.63Moderate
chronic kidney diseaseOpen Targets
0.63Moderate
Renal glucosuriaOpen Targets
0.62Moderate
type 1 diabetes mellitusOpen Targets
0.60Moderate
Disorder of carbohydrate metabolismOpen Targets
0.57Moderate
carbohydrate metabolism diseaseOpen Targets
0.52Moderate
systolic heart failureOpen Targets
0.51Moderate
GlycosuriaOpen Targets
0.41Moderate
diabetic nephropathyOpen Targets
0.41Moderate
atrial fibrillationOpen Targets
0.40Weak
myocardial infarctionOpen Targets
0.39Weak
polycystic ovary syndromeOpen Targets
0.39Weak
metabolic diseaseOpen Targets
0.37Weak
Other metabolic diseaseOpen Targets
0.37Weak
glucose metabolism diseaseOpen Targets
0.37Weak
nasopharyngeal neoplasmOpen Targets
0.37Weak
nutritional or metabolic diseaseOpen Targets
0.37Weak
Renal glucosuriaUniProt
Pathogenic Variants43
NM_003041.4(SLC5A2):c.506del (p.Ala169fs)Pathogenic
SLC5A2-related disorder|not provided|Familial renal glucosuria|Gastric cancer
β˜…β˜…β˜†β˜†2024β†’ Residue 169
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)Pathogenic
Familial renal glucosuria
β˜…β˜…β˜†β˜†2024β†’ Residue 99
NM_003041.4(SLC5A2):c.901T>C (p.Cys301Arg)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2026β†’ Residue 301
NM_003041.4(SLC5A2):c.1145T>G (p.Met382Arg)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2026β†’ Residue 382
NM_003041.4(SLC5A2):c.1665+2T>CLikely pathogenic
Renal tubulopathies
β˜…β˜†β˜†β˜†2025
NM_003041.4(SLC5A2):c.617dup (p.Val207fs)Pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2025β†’ Residue 207
NM_003041.4(SLC5A2):c.1281-1G>APathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2025
NM_003041.4(SLC5A2):c.1792+1G>CLikely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2025
NM_003041.4(SLC5A2):c.283G>A (p.Val95Ile)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 95
NM_003041.4(SLC5A2):c.1665+1delPathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024
NM_003041.4(SLC5A2):c.409C>T (p.Arg137Cys)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 137
NM_003041.4(SLC5A2):c.1361del (p.Asp454fs)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 454
NM_003041.4(SLC5A2):c.1540C>T (p.Pro514Ser)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 514
NM_003041.4(SLC5A2):c.333G>A (p.Trp111Ter)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 111
NM_003041.4(SLC5A2):c.434T>G (p.Leu145Arg)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 145
NM_003041.4(SLC5A2):c.1281-2A>GLikely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024
NM_003041.4(SLC5A2):c.1262_1280dup (p.Leu428fs)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 428
NM_003041.4(SLC5A2):c.962A>G (p.Lys321Arg)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 321
NM_003041.4(SLC5A2):c.394C>T (p.Arg132Cys)Likely pathogenic
Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 132
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs)Likely pathogenic
not provided|Familial renal glucosuria
β˜…β˜†β˜†β˜†2024β†’ Residue 525
View on ClinVar β†—
Drug Targets17
BEXAGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
diabetes mellitus
CANAGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
CANAGLIFLOZIN ANHYDROUSPhase I
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
DAPAGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
diabetes mellitus
DAPAGLIFLOZIN PROPANEDIOLApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
EMPAGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
ERTUGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
diabetes mellitus
ERTUGLIFLOZIN PIDOLATEApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
HENAGLIFLOZINPhase III
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
IPRAGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
diabetes mellitus
IPRAGLIFLOZIN L-PROLINEApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
LICOGLIFLOZINPhase II
Sodium/glucose cotransporter 1 inhibitor
heart failure
REMOGLIFLOZIN ETABONATEPhase II
Sodium/glucose cotransporter 2 inhibitor
SOTAGLIFLOZINApproved
Sodium/glucose cotransporter 1 inhibitor
diabetes mellitus
TOFOGLIFLOZINApproved
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
TOFOGLIFLOZIN ANHYDROUSPhase II
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
YM-543Phase II
Sodium/glucose cotransporter 2 inhibitor
type 2 diabetes mellitus
Related Genes
MGAMProtein interaction91%INSProtein interaction89%ADCY7Protein interaction84%SLC6A2Protein interaction84%SLC2A1Protein interaction83%DPP4Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Lung
90%
Bone Marrow
78%
Liver
61%
Ovary
52%
Heart
23%
Gene Interaction Network
Click a node to explore
SLC5A2MGAMINSADCY7SLC6A2SLC2A1DPP4
PROTEIN STRUCTURE
Preparing viewer…
PDB9KMN Β· 2.47 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.21LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.81–1.21]
RankingsWhere SLC5A2 stands among ~20K protein-coding genes
  • #3,664of 20,598
    Most Researched128 Β· top quartile
  • #143of 1,025
    FDA-Approved Drug Targets11 Β· top quartile
  • #1,463of 5,498
    Most Pathogenic Variants43
  • #12,720of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedSLC5A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Euglycemic Diabetic Ketoacidosis: A Review.
PMID: 27097605
Curr Diabetes Rev Β· 2017
1.00
2
Mechanisms of Cardiorenal Effects of Sodium-Glucose CotransporterΒ 2Β Inhibitors: JACC State-of-the-Art Review.
PMID: 32000955
J Am Coll Cardiol Β· 2020
0.90
3
Development of SGLT1 and SGLT2 inhibitors.
PMID: 30132033
Diabetologia Β· 2018
0.80
4
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2.
PMID: 30132032
Diabetologia Β· 2018
0.70
5
Combination therapy with GLP-1 receptor agonist and SGLT2 inhibitor.
PMID: 28432726
Diabetes Obes Metab Β· 2017
0.60