White sponge nevus: genes and variants
White sponge nevus is linked to 2 analyzed proteins (KRT13 and KRT4). 3 DNA variants are known to cause it; 31 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: white sponge nevus 1; White sponge nevus 2
Genes linked to White sponge nevus
KRT13: Keratin, type I cytoskeletal 13
It contributes to intermediate filaments in non-keratinized stratified epithelia such as oral and esophageal mucosa. Dominant pathogenic variants can cause white sponge nevus, a benign disorder characterized by thickened white mucosal plaques.
2 disease-causing and 11 uncertain variants in KRT13 are linked to White sponge nevus.
KRT4: Keratin, type II cytoskeletal 4
It contributes to intermediate filaments in non-keratinized mucosal epithelia, especially oral and esophageal surfaces. Dominant pathogenic variants can cause white sponge nevus, producing benign thickened white plaques of the mucosa.
1 disease-causing and 20 uncertain variants in KRT4 are linked to White sponge nevus.
Known disease-causing variants in White sponge nevus
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT13 L111P | 111 | IF rod | Disease-causing |
| KRT13 L119P | 119 | IF rod | Disease-causing |
| KRT4 E435K | 435 | IF rod | Disease-causing |
Frequently asked questions
Which genes are linked to White sponge nevus?
In CATVariant, White sponge nevus is linked to 2 analyzed proteins: KRT13 (Keratin, type I cytoskeletal 13) and KRT4 (Keratin, type II cytoskeletal 4).
How many genetic variants are linked to White sponge nevus?
83 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 31 are of uncertain significance or have conflicting reports.
Which uncertain variants in White sponge nevus 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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