SLC5A2
Chr 16ADARsolute carrier family 5 member 2
Also known as: SGLT2
This gene encodes a sodium-glucose cotransporter protein that reabsorbs glucose from glomerular filtrate in the proximal tubules of the kidney. Mutations cause renal glucosuria, a condition characterized by glucose excretion in urine despite normal blood glucose levels. The condition can be inherited in either autosomal dominant or autosomal recessive patterns and is generally considered benign with minimal clinical consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC5A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Transformative Research in Diabetic Nephropathy 2.0
RECRUITINGEffect of Genetic Polymorphism on the Clinical Outcome to SGLT2 Inhibitors in Heart Failure Patients
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools