Familial renal glucosuria: genes and variants
Familial renal glucosuria is linked to 1 analyzed protein (SLC5A2). 18 DNA variants are known to cause it; 139 more are uncertain, and 2 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial renal glucosuria
SLC5A2: Sodium/glucose cotransporter 2
It reabsorbs most filtered glucose from the renal proximal tubule together with sodium. Loss-of-function variants cause familial renal glucosuria, while pharmacologic inhibition lowers blood glucose and provides major cardiovascular and kidney benefits.
18 disease-causing and 139 uncertain variants in SLC5A2 are linked to Familial renal glucosuria.
Known disease-causing variants in Familial renal glucosuria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC5A2 K321R | 321 | Transmembrane | Disease-causing (★★) |
| SLC5A2 G77S | 77 | Transmembrane | Disease-causing (★) |
| SLC5A2 R132C | 132 | Cytoplasmic | Disease-causing (★) |
| SLC5A2 R137H | 137 | Transmembrane | Disease-causing (★) |
| SLC5A2 R137C | 137 | Transmembrane | Disease-causing (★) |
| SLC5A2 C301R | 301 | Cytoplasmic | Disease-causing (★) |
| SLC5A2 G484D | 484 | Transmembrane | Disease-causing (★) |
| SLC5A2 G356S | 356 | Extracellular | Disease-causing (★) |
| SLC5A2 V116M | 116 | Cytoplasmic | Disease-causing (★) |
| SLC5A2 A219T | 219 | Extracellular | Disease-causing (★) |
| SLC5A2 R368W | 368 | Extracellular | Disease-causing (★) |
| SLC5A2 F453L | 453 | Transmembrane | Disease-causing (★) |
| SLC5A2 A469T | 469 | Transmembrane | Disease-causing (★) |
| SLC5A2 P514S | 514 | Extracellular | Disease-causing (★) |
| SLC5A2 A89T | 89 | Extracellular | Disease-causing |
| SLC5A2 F98L | 98 | Transmembrane | Disease-causing |
| SLC5A2 G449C | 449 | Extracellular | Disease-causing |
| SLC5A2 R479G | 479 | Cytoplasmic | Disease-causing |
Uncertain variants in Familial renal glucosuria that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC5A2 R132H | 132 | Cytoplasmic | Uncertain (★★) | +6: in a 3D region that tolerates change poorly (3R); R132C at the same position is pathogenic; REVEL 0.978 |
| SLC5A2 R132S | 132 | Cytoplasmic | Uncertain (★★) | +6: in a 3D region that tolerates change poorly (3R); R132C at the same position is pathogenic; REVEL 0.943 |
Diseases related to Familial renal glucosuria
- Type 2 diabetes mellitus, also linked to SLC5A2
- Diabetes mellitus, also linked to SLC5A2
- Type 1 diabetes mellitus, also linked to SLC5A2
- Chronic kidney disease, also linked to SLC5A2
Frequently asked questions
Which genes are linked to Familial renal glucosuria?
In CATVariant, Familial renal glucosuria is linked to 1 analyzed protein: SLC5A2 (Sodium/glucose cotransporter 2).
How many genetic variants are linked to Familial renal glucosuria?
163 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 139 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial renal glucosuria look disease-causing?
2 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SLC5A2 R132H and SLC5A2 R132S. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center