Diabetes insipidus, nephrogenic, autosomal: genes and variants
Diabetes insipidus, nephrogenic, autosomal is linked to 1 analyzed protein (AQP2). 16 DNA variants are known to cause it; 38 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Diabetes insipidus, nephrogenic, autosomal
AQP2: Aquaporin-2
It is inserted into the collecting-duct apical membrane in response to vasopressin, allowing water reabsorption and concentration of urine. Pathogenic variants cause nephrogenic diabetes insipidus, usually recessive for loss-of-function alleles and sometimes dominant through abnormal intracellular trafficking.
16 disease-causing and 38 uncertain variants in AQP2 are linked to Diabetes insipidus, nephrogenic, autosomal.
Where Diabetes insipidus, nephrogenic, autosomal variants cluster
- AQP2 Discontinuously helical (positions 181–193): 4 of 16 disease-causing changes, 5.2× more than its size predicts.
Known disease-causing variants in Diabetes insipidus, nephrogenic, autosomal
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AQP2 G64R | 64 | Cytoplasmic | Disease-causing (★★) |
| AQP2 G100V | 100 | Transmembrane | Disease-causing (★★) |
| AQP2 V71M | 71 | Discontinuously helical | Disease-causing (★★) |
| AQP2 R187H | 187 | Discontinuously helical | Disease-causing (★★) |
| AQP2 Q57P | 57 | Transmembrane | Disease-causing (★★) |
| AQP2 A147T | 147 | Transmembrane | Disease-causing (★★) |
| AQP2 V168M | 168 | Transmembrane | Disease-causing (★★) |
| AQP2 P185A | 185 | Discontinuously helical | Disease-causing (★★) |
| AQP2 T126M | 126 | Extracellular | Disease-causing (★★) |
| AQP2 T125M | 125 | Extracellular | Disease-causing (★★) |
| AQP2 P262L | 262 | Cytoplasmic | Disease-causing (★★) |
| AQP2 A130V | 130 | Transmembrane | Disease-causing (★) |
| AQP2 G100R | 100 | Transmembrane | Disease-causing |
| AQP2 N68S | 68 | Discontinuously helical | Disease-causing |
| AQP2 S188F | 188 | Discontinuously helical | Disease-causing |
| AQP2 C181W | 181 | Discontinuously helical | Disease-causing |
Same protein, different disease
- Nephrogenic diabetes insipidus is also caused by AQP2 variants; they fall mostly in different places as the Diabetes insipidus, nephrogenic, autosomal variants (19 disease-causing).
Diseases related to Diabetes insipidus, nephrogenic, autosomal
- Nephrogenic diabetes insipidus, also linked to AQP2
Frequently asked questions
Which genes are linked to Diabetes insipidus, nephrogenic, autosomal?
In CATVariant, Diabetes insipidus, nephrogenic, autosomal is linked to 1 analyzed protein: AQP2 (Aquaporin-2).
How many genetic variants are linked to Diabetes insipidus, nephrogenic, autosomal?
75 variants: 16 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 38 are of uncertain significance or have conflicting reports.
Which uncertain variants in Diabetes insipidus, nephrogenic, autosomal look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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.
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