Pseudohypoaldosteronism type 2E: genes and variants
Pseudohypoaldosteronism type 2E is linked to 1 analyzed protein (CUL3). 7 DNA variants are known to cause it; 24 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: pseudohypoaldosteronism type 2A
Genes linked to Pseudohypoaldosteronism type 2E
CUL3: Cullin-3
It serves as a scaffold for multiple ubiquitin-ligase complexes that control degradation of signaling and regulatory proteins, including components of the KEAP1-NRF2 pathway. Pathogenic variants can cause pseudohypoaldosteronism type II and neurodevelopmental disorders, while somatic alterations affect cancer signaling.
7 disease-causing and 24 uncertain variants in CUL3 are linked to Pseudohypoaldosteronism type 2E.
Known disease-causing variants in Pseudohypoaldosteronism type 2E
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CUL3 K459M | 459 | Disease-causing (★) | |
| CUL3 A214G | 214 | Disease-causing (★) | |
| CUL3 A437V | 437 | Disease-causing (★) | |
| CUL3 R438G | 438 | Disease-causing (★) | |
| CUL3 A371V | 371 | Disease-causing (★) | |
| CUL3 K459R | 459 | Disease-causing | |
| CUL3 D413G | 413 | Disease-causing |
Same protein, different disease
- Neurodevelopmental disorder with or without autism or seizures is also caused by CUL3 variants; they fall mostly in different places as the Pseudohypoaldosteronism type 2E variants (3 disease-causing).
Diseases related to Pseudohypoaldosteronism type 2E
- NK-cell enteropathy, also linked to CUL3
- Neurodevelopmental disorder with or without autism or seizures, also linked to CUL3
Frequently asked questions
Which genes are linked to Pseudohypoaldosteronism type 2E?
In CATVariant, Pseudohypoaldosteronism type 2E is linked to 1 analyzed protein: CUL3 (Cullin-3).
How many genetic variants are linked to Pseudohypoaldosteronism type 2E?
41 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 24 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pseudohypoaldosteronism type 2E 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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